Rare Disorders

Renal Disorders

CLCN5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CLCN5
  • Confirmation of the clinical diagnosis
  • Differentiation between Dent disease and other causes of Fanconi syndrome
  • Determination of appropriate therapeutic approach
  • Identification of carriers
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

229
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 592 Calculus of kidney and ureter Excludes: nephrocalcinosis (275.49)
  • 270 Disorders of amino-acid transport and metabolism Excludes: abnormal findings without manifest disease (790.0-796.9) disorders of purine and pyrimidine metabolism (277.1-277.2) gout (274.00-274.9)
  • 275.4 Disorders of calcium metabolism
  • 639.3 Kidney failure Oliguria
* For price inquiries please email zebras@genedx.com

References

  1. Rebelo et al., (2005) An Acad Bras Cienc 77(1):95-101
  2. Hoopes et al., (2005) Am J Hum Genet 76:260- 267
  3. Ludwig et al., (2005) Hum Genet 117:228-237
  4. Tosetto et al., (2006) Nephrol Dial Transplant 21:2452-2463
OCRL Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OCRL
  • Confirmation of clinical or biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

335
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 270 Disorders of amino-acid transport and metabolism Excludes: abnormal findings without manifest disease (790.0-796.9) disorders of purine and pyrimidine metabolism (277.1-277.2) gout (274.00-274.9)
  • 639.3 Kidney failure Oliguria
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Leahey et al. Hum Mol Genet 4:461-463, 1993
  2. Utsch et al., Am J Kidney Dis 48, 942
  3. Lin et al., Am J Hum Genet 60:1384-1388, 1997
  4. Suchy et al., Hum Mutat 4:2245-2250, 1995
  5. Hoopes et al., Am J Hum Genet 76:260-267, 2005
  6. Nussbaum and Suchy, Lowe Syndrome, In CR Scriver, AL Beaudet, WE Sly and D Valle (Eds) Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY, pp. 6257-6266, 2001
PKD1 and PKD2 Deletion/Duplication Test

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PKD1, PKD2, TSC2*
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Recurrence risk
  • Assist with management/treatment decisions

*Large deletions encompassing the PKD1 gene and the adjacent TSC2 gene would also be detected by this test.

  • MLPA

Ordering

T422
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Torres VE and Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney International. 2009 Jul 76(2):149-68. (PMID: 19455193)
  2. Chebib FT and Torres VE. Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016. American Journal of Kidney Diseases 2016 May 67(5):792-810. (PMID: 26530876)
  3. Consugar MB et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney International. 2008 Dec 74(11):1468-79. (PMID: 18818683)
  4. Neumann HP et al. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. International Urology and Nephrology. 2012 Dec 44(6):1753-62. (PMID: 22367170)
  5. Tan AY et al. Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. Clinical Genetics. 2015 Apr 87(4):373-7. (PMID: 24641620)
  6. Vujic M et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. Journal of the American Society of Nephrology. 2010 Jul 21(7):1097-102. (PMID: 20558538)
  7. Gilbert RD et al. Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatric Nephrology (Berlin, Germany). 2013 28(11):2217-20. (PMID: 23624871)
  8. Ong AC and Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney International. 2005 Apr 67(4):1234-47. (PMID: 15780076)
  9. Hateboer N et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet (London, England). 1999 Jan 09 353(9147):103-7. (PMID: 10023895)
  10. Rossetti S et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology 2007 18(7):2143-60. (PMID: 17582161)
  11. Audrézet MP et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Human Mutation. 2012 Aug 33(8):1239-50. (PMID: 22508176)
  12. Schouten et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research. 2002 Jun 15 30(12):e57.12060695 (PMID: 12060695)

Dermatologic Disorders

ALOX12B Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ALOX12B
  • Confirmation of the clinical diagnosis in any child born with a collodion membrane in whom a TGM1 mutation has been ruled out
  • Confirmation of the clinical diagnosis in any individual with non-bullous congenital ichthyosiform erythroderma
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array

Ordering

1151
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Lobard et al. Lipoxygenase-3 (ALOXE3) and 12B-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-113, 2002.
  2. Eckl et al. Mutation spectrum and functional analysis of epidermis-type lioxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61.
  3. Dahlqvist et al., Congenital ichthyosis: Mutations in ichthyin associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44: 615-620, 2007.
  4. Lefevre et al. Mutations in ichthyin a new gene on chromosome 5q33, in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482, 2004.
ABHD5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ABHD5
  • Confirmation of clinical diagnosis
  • To distinguish CDS from other forms of NCIE
  • Recurrence risk calculation
  • Prenatal diagnosis for couples with known mutation(s)
  • Capillary Sequencing

Ordering

114
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Emre et al. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. European Journal of Medical Genetics. 2010 March; 53:141-144
  2. Schweiger et al. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab 2009 297:E289-E296
  3. Bruno et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8
  4. Akiyama et al. (2008) CGI-58 Is an {alpha}/?-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes. Am J Pathol 173:1349-1360
  5. Akiyama et al. (2003) Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Chanarin-Dorfman syndrome. J Invest Dermatol. 121:1029-1034
  6. Lefevre et al (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69:1002-1012
ABCA12 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ABCA12
  • A child born with harlequin ichthyosis or with severe congenital ichthyosiform erythroderma
  • An individual of Northern African descent with lamellar ichthyosis without identifiable mutations in TGM1
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation(s)
  • Capillary Sequencing

Ordering

120
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Lefevre et al. Hum Mol Genet 12:2369-78, 2003
  2. Kelsell et al. Am J Hum Genet 76: 794-803, 2005
  3. Akiyama et al. J Invest Dermatol 124: A77, 2005
  4. Thomas AC et al. J Invest Dermatol. 2006 Nov;126(11):2408-13
  5. Thomas et al. Br J Dermatol. 2008 Mar;158(3):611-3
  6. Akiyama Human Mutation 31(10): 1090-1096, 2010
ABCA12 Select Exon Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ABCA12
  • A child born with harlequin ichthyosis or with severe congenital ichthyosiform erythroderma
  • An individual of Northern African descent with lamellar ichthyosis without identifiable mutations in TGM1
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation(s
  • Capillary Sequencing

Ordering

126
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Akiyama Human Mutation 31(10): 1090-1096, 2010
  2. Thomas et al. Br J Dermatol. 2008 Mar;158(3):611-3
  3. Thomas AC et al. J Invest Dermatol. 2006 Nov;126(11):2408-13
  4. Akiyama et al. J Invest Dermatol 124: A77, 2005
  5. Kelsell et al. Am J Hum Genet 76: 794-803, 2005
  6. Lefevre et al. Hum Mol Genet 12:2369-78, 2003
ABCC6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition Clinical Data Sheet

Test Details

ABCC6
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2642
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Bergen et al., (2000) Nat Genet 25(2):228-31
  2. Pfendner et al., (2008) Expert Opin Me. Diagn 2(1):1-17
  3. Laube & Moss, (2005) Arch Dis Child 90:754-756
  4. Chassaing et al., (2005) J Med Genet 42:881-892
  5. Le Saux et al., (2001) Am J Hum Genet 69: 749- 764
  6. Pfendner et al. (2007) J Med Genet 44:621-628
ABCC6 Hot Spots (Tier I)

Forms and Documents

Test Info Sheet Clinical Data Sheet Test Requisition

Test Details

ABCC6
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2641
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Pfendner et al. (2007) J Med Genet 44:621-628
  2. Le Saux et al., (2001) Am J Hum Genet 69: 749- 764.
  3. Chassaing et al., (2005) J Med Genet 42:881-892
  4. Laube & Moss, (2005) Arch Dis Child 90:754-756
  5. Bergen et al., (2000) Nat Genet 25(2):228-31
  6. Pfendner et al., (2008) Expert Opin Me. Diagn 2(1):1-17
ALDH3A2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ALDH3A2
  • Confirmation of the clinical diagnosis in a patient with ichthyosis and neurologic symptoms
  • To differentiate between SLS and other causes of congenital ichthyosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array

Ordering

128
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 277.6 Other deficiencies of circulating enzymes, Hereditary angioedema
  • 277.9 Unspecified disorder of metabolism, Enzymopathy NOS
* For price inquiries please email zebras@genedx.com

References

  1. Rizzo and Carney. Sjögren Larsson Syndrome: Diversity of Mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mut 26(1): 1-10, 2005
ALOXE3 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ALOXE3
  • Confirmation of the clinical diagnosis in any child born with a collodion membrane in whom a TGM1 mutation has been ruled out
  • Confirmation of the clinical diagnosis in any individual with non-bullous congenital ichthyosiform erythroderma
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array

Ordering

1152
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Lobard et al. Lipoxygenase-3 (ALOXE3) and 12B-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-113, 2002.
  2. Dahlqvist et al., Congenital ichthyosis: Mutations in ichthyin associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44: 615-620, 2007.
  3. Lefevre et al. Mutations in ichthyin a new gene on chromosome 5q33, in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482, 2004.
  4. Eckl et al. Mutation spectrum and functional analysis of epidermis-type lioxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61.
ATP2A2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ATP2A2
  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

201
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Tavida et al. 2002 BJD 146:107-109
  2. Onozuka et al. BJD 150:652-7, 2004
  3. Sakuntabhai et al. Nature Genet. 21: 271-277, 1999
  4. Ruiz-Perez et al. Hum. Molec. Genet. 8: 1621-1630, 1999
  5. Ringpfeil et al. Exp. Derm. 10: 19-27, 2001
  6. Jacobsen et al. Hum. Molec. Genet. 8: 1631-1636, 1999
  7. Dhitavat et al. J. Invest. Derm. 120: 229-232, 2003
  8. Cooper SM, Burge SM. Am J Clin Dermatol. 2003;4(2):97-105
  9. Chao et al. Brit. J. Derm. 146: 958-963, 2002
  10. Ahn et al. J. Biol. Chem. 278: 20795-20801, 2003
ATP2C1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ATP2C1
  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members, including pre-symptomatic testing
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

206
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 694.5 Pemphigoid Benign pemphigus NOS, Bullous pemphigoid, Herpes circinatus bullosus, Senile dermatitis herpetiformis
* For price inquiries please email zebras@genedx.com

References

  1. Cheng TS et al., JAEDV 24:1202-1206, 2010.
  2. Zhang F et al. Dermatology. 2007;215(4):277-83.
  3. Hamada T et al. J Dermatol Sci. 2008 Jul;51(1):31-6.
  4. Foggia and Hovnanian Am J Med Genet (Part C) 131C: 20-31, 2004.
  5. Dobson-Stone C. et al. J Invest Dermatol 118:338-343, 2002.
  6. Ikeda S. et al. J Invest Dermatol 117:1654-1656, 2001.
  7. Sudbrak R. et al. Hum Mol Genet 9:1131-1140, 2000.
  8. Hu Z. et al. Nat Genet 24:61-65, 2000.
COL17A1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

COL17A1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1636
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Varki et al 2006 J Medical Genetics 43:641-652
  2. Nakamura et al 2006 Int J Mol Med. 18(2):333-337
  3. Murrell et al 2007 J Invest Dermatol 127(7):1772-1775
  4. Pasmooij et al 2004 l Br J Dermatol. 151:669-674
COL7A1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

COL7A1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

162
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Varki et al., 2007 J Med Genet 44: 181-192.
  2. Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Principles and Practice of Medical Genetics. 4th ed. London: Churchill-Livingston; 2002;3810-3897.
  3. Fine J-D, et al. J Am Acad Dermatol 2000;42:1051-106
  4. Rouan F, et al. 1998 J Invest Dermatol.111:1210.
  5. Jarvikallio A et al. 1997 Hum Mutat.10:338.
Connexin Gene Testing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GJB3 (Cx31), GJB4 (Cx30.3)
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

119
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Richard et al. Nat Genet 1998; 20: 366-369
  2. Richard et al. Hum Genet 106:321-329, 2000
  3. Macari et al. Am J Hum Genet 2000, 67:1296-1301
  4. Gottfried et al. Hum Mol Genet 11:1311-1316, 2002
  5. Richard et al. 2003, JID 120:601-609
  6. Terrinoni et al. JID 122:837-839, 2004
  7. Common et al. JID 125:920-927, 2005
CTSC Gene Sequencing

Forms and Documents

Test Requisition

Test Details

CTSC
  • Capillary Sequencing

Ordering

735
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
CYP4F22 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CYP4F22
  • Confirmation of the clinical diagnosis and differentiating between the various forms of congenital ichthyosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

637
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Herman M. et al. (2009) Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 30:537-47.
  2. Eckl K. et al. (2009) Molecular Analysis of 250 Patients with Autosomal Recessive Congenital Ichthyosis: Evidence for Mutation Hotspots in ALOXE3 and Allelic Heterogeneity in ALOX12B. J Invest Derm. 129: 1421-1428.
  3. Fischer J. et al. (2009) Autosomal Recessive Congenital Ichthyosis. J Invest Derm. 129:1319-1321.
  4. Eckl K. et al. (2005) Mutation spectrum and functional analysis of epidermis-type lioxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mut. 26:351-61. (3) Lefevre C. et al. (2004) Mutations in ichthyin a new gene on chromosome 5q3
  5. Jobard F. et al. (2002) Lipoxygenase-3 (ALOXE3) and 12B-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-11.
  6. Lefevre C. et al. (2004) Mutations in ichthyin a new gene on chromosome 5q33, in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482.
  7. Dahlqvist J. et al. (2007) Congenital ichthyosis: Mutations in ichthyin associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44: 615- 620.
  8. Lefevre C. et al. (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet. 15:767-776.
EDA1 Gene Sequencing & Del/Dup (Female)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EDA1
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and recessive forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1601E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Monreal et al. 1998 Am J Hum Genet 63:380-389
  2. Vincent et al. 2001 Eur J Hum Genet 9:355-363
  3. Paakkonen et al. 2001 Hum Mut 17:349
EDA1 Gene Sequencing (males)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EDA1
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and recessive forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

1601
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Paakkonen et al. 2001 Hum Mut 17:349
  2. Vincent et al. 2001 Eur J Hum Genet 9:355-363
  3. Monreal et al. 1998 Am J Hum Genet 63:380-389
EDAR Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EDAR
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and autosomal forms of the disease
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

156
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Bal, E et al. Hum Mutat. 28:703-709, 2007.
  2. Headon et al. Nature. 414:913-916, 2001.
  3. Monreal et al. Nat Genet 22:366-369, 1999.
  4. Chassaing et al. Hum Mutat. 27(3):255-259, 2006
EDARADD Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EDARADD
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and autosomal forms of the disease
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

617
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Cluzeau C. et al., (2011) Hum Mutat 32:70-71. Bergendal B. et al., (2011) Am J Med Genet Part A 155:1616-1622.
FLG (Filaggrin) Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

FLG
  • Confirmation of a clinical diagnosis
  • To differentiate from other forms of ichthyosis (X-linked, mild lamellar ichthyosis, others)
  • Risk assessment for atopic dermatitis
  • Capillary Sequencing

Ordering

123
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81401x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Greisenegger et al. JEADV 24: 607-610, 2010
  2. Seller et al. British Journal of Dermatology 160: 771-781, 2009
  3. Stemmler S. et al. J Invest Dermatol 2006 (Epub ahead of print)
  4. Marenholz I. et al. J Allergy Clin Immunol 118:866-871, 2006
  5. Weidinger S. et al. J Allergy Clin Immunol 118:214-219, 2006
  6. Palmer CNA. et al. Nat Genet 38(4):441-446 , 2006
  7. Sandilands A., et al. J Invest Dermatol 126: 1770-1775, 2006
  8. Smith FJD. et al. Nat Genet 38(3):337-342, 2006
  9. Barker JN. J Invest Dermatol. 2006 (Epub ahead of print)
GJB2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GJB2 (Cx26)
  • Confirmation of a clinical diagnosis
  • To distinguish GJB2 disorders from other forms of palmoplantar keratoderma
  • Defining the inheritance pattern in the family or individual
  • Prenatal diagnosis in families with known mutation(s)
  • Capillary Sequencing

Ordering

130
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1
Yes
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

References

  1. Richard et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey Syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol, 123(5):856-63, 2004
  2. Maestrini et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel\\\\\\\\\\\\\\\'s syndrome) in three unrelated families. Hum. Mol. Genet. 8: 1237–1243, 1999
  3. G. Richard. Connexin Disorders of the Skin. Clinics in Dermatology, 23:23-32, 2005
GJB6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GJB6 (Cx30)
  • Confirmation of the clinical diagnosis
  • To distinguish between different forms of ectodermal dysplasias
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

157
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81254x1, 81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Jan et al. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May;122(5):1108-13
  2. Smith et al. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar; 118(3):530-2
  3. van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003 Nov;121(5):1035-8
  4. Lamartine et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4
Ichthyin(NIPAL4) Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NIPAL4(Ichthyin)
  • Confirmation of the clinical diagnosis in any child born with a collodion membrane in whom a TGM1 mutation has been ruled out
  • Confirmation of the clinical diagnosis in any individual with non-bullous congenital ichthyosiform erythroderma
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1153
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Lobard et al. Lipoxygenase-3 (ALOXE3) and 12B-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-113, 2002
  2. Eckl et al. Mutation spectrum and functional analysis of epidermis-type lioxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61
  3. Lefevre et al. Mutations in ichthyin a new gene on chromosome 5q33, in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482, 2004
  4. Dahlqvist et al., Congenital ichthyosis: Mutations in ichthyin associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44: 615-620, 2007
IKBKG (NEMO) Common Deletion (Female)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

IKBKG (NEMO)
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Long Range PCR

Ordering

2861
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
  • 757.33 Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 520 Disorders of tooth development and eruption
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 361 Retinal detachments and defects
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010
IKBKG (NEMO) Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

IKBKG (NEMO)
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2862
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
  • 757.33 Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 520 Disorders of tooth development and eruption
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 361 Retinal detachments and defects
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010
ITGA6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ITGA6
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Identification of at risk family members
  • Carrier testing in unaffected family members.
  • Capillary Sequencing

Ordering

1642
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Ruzzi L, et al 1997 J Clin Invest 99:2826-31
  2. Inoue et al. 2000 J Invest Dermatol 114:1061-4
  3. Varki et al. 2006 J Med Genet 43:641-52
  4. Ashton et al. 2001 Br J Dermatol. 144:408-14
  5. Mellerio et al. 1998 Br J Dermatol. 139:862-71
  6. Pulkkinen et al, 1998 Am J Patho l152:157-166
  7. Pulkkinen et al.1998. Am J Hum Genet 63:1376-1387
  8. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  9. Nakamura H et. al. 2005 J Mol Diagn.7:28-35
  10. Sawamura D et. al 2007 J Invest Dermatol. 127:1537-40
  11. Lepinard et al 2000 Prenat Diagn 20:70-5
  12. Gache et al 1998 J Invest Dermatol 111:914-6
  13. Dolan et al 1993. Am J Med Genet 47:395-400
  14. Azarian et al 2006 Prenat Diagn 26:57-9
  15. Jonkman et al. 2002 J Invest Dermatol 119:1275-81
  16. Chavanas et al 1999 Hum Mol Genet. 8:2097-105
  17. Iacovacci et al 2003 Exp Dermatol 12:716-20
ITGB4 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ITGB4
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Identification of at risk family members.
  • Carrier testing of unaffected family members.
  • Capillary Sequencing

Ordering

1641
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Salvestrini et al. 2008 J Ped Gastroenterol and Nutrition 47:585-591
  2. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  3. Almaani et al. 2009 Br J Dermatol 160:1094-1097.
  4. Nakamura H et al., 2005 J Mol Diagn.7:28-35
  5. Sawamura D et al., 2007 J Invest Dermatol. 127:1537-40
  6. Ruzzi L, et al., 1997 J Clin Invest 99:2826-31
  7. Inoue et al., 2000 J Invest Dermatol 114:1061-4
  8. Gache et al., 1998 J Invest Dermatol 111:914-6
  9. Lepinard et al., 2000 Prenat Diagn 20:70-5
  10. Dolan et al., 1993. Am J Med Genet 47:395-400
  11. Chavanas et al., 1999 Hum Mol Genet. 8:2097-105
  12. Azarian et al., 2006 Prenat Diagn 26:57-9
  13. Jonkman et al., 2002 J Invest Dermatol 119:1275-81
  14. Iacovacci et al., 2003 Exp Dermatol 12:716-20
  15. Varki et al., 2006 J Med Genet 43:641-52
  16. Ashton et al., 2001 Br J Dermatol. 144:408-14
  17. Mellerio et al., 1998 Br J Dermatol. 139:862-71
  18. Pulkkinen et al., 1998 Am J Patho l152:157-166
  19. Pulkkinen et al., 1998. Am J Hum Genet 63:1376-1387
KRT1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT1
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1182
6 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 1999
KRT1, KRT10 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT1, KRT10
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1181
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 1999
KRT10 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT10
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1183
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 199
KRT13 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT13
  • Confirmation of a clinical diagnosis
  • Identification of other affected family members
  • Capillary Sequencing

Ordering

2133
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 530.83 Esophageal leukoplakia
  • 528.6 Leukoplakia of oral mucosa, including tongue Leukokeratosis of oral mucosa Leukoplakia of: gingiva lips tongue
  • 623.1 Leukoplakia of vagina
* For price inquiries please email zebras@genedx.com

References

  1. Richard, G et al. Nature Genet. 11: 453-455, 1995
  2. Rugg, EL et al. Nature Genet. 11: 450-452, 1995
  3. Terrinoni, A et al. J. Invest. Derm. 114: 388-391, 2000
  4. Witkop, CJ Jr. & Gorlin, R.J. Arch. Derm. 84: 762-771, 1961
KRT14 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT14
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1682
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Rugg et al. J Invest Dermatol 2006
  2. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
  3. Koss-Harnes D et. al. 2002 J Invest Information Sheet on Epidermolysis Bullosa Simplex Page 3 of 3 © GeneDx Revision Date: 12/10 Dermatol. 118:87-93
  4. Pfendner EG, et al 2005. J Invest Dermatol 125:239-243
  5. Je?ábková et al. British J of Derm 162:1004-1013, 2009
  6. Arin et al. British J of Dermatol, 162:1365-1369, 2009
  7. Smith F.2003. Am J Clin Dermatol. 4:347-64
KRT16 Hot Spots

Forms and Documents

Test Requisition Test Info Sheet

Test Details

KRT16
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2121
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001
  2. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
  3. Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
KRT17 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT17
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2111
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Kimonis et al. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol. 1994 Dec;103(6):764-9
  2. Sprecher et al. Evidence for function of the variable keratin tail domain emerging from a mutation causing Ichthyosis Hystrix Curth-Macklin. J Invest Dermatol, 116: 411- 419, 2000
  3. Whittock et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May;118(5):838-44
KRT2 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT2
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

122
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 1999
KRT4 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT4
  • Confirmation of a clinical diagnosis
  • Identification of other affected family members
  • Capillary Sequencing

Ordering

2132
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 530.83 Esophageal leukoplakia
  • 528.6 Leukoplakia of oral mucosa, including tongue Leukokeratosis of oral mucosa Leukoplakia of: gingiva lips tongue
  • 623.1 Leukoplakia of vagina
* For price inquiries please email zebras@genedx.com

References

  1. Richard, G et al. Nature Genet. 11: 453-455, 1995
  2. Rugg, EL et al. Nature Genet. 11: 450-452, 1995
  3. Terrinoni, A et al. J. Invest. Derm. 114: 388-391, 2000
  4. Witkop, CJ Jr. & Gorlin, R.J. Arch. Derm. 84: 762-771, 1961
KRT4, KRT13 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT13, KRT4
  • 1. Confirmation of a clinical diagnosis
  • 2. Identification of other affected family members
  • Capillary Sequencing

Ordering

2131
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 530.83 Esophageal leukoplakia
  • 528.6 Leukoplakia of oral mucosa, including tongue Leukokeratosis of oral mucosa Leukoplakia of: gingiva lips tongue
  • 623.1 Leukoplakia of vagina
* For price inquiries please email zebras@genedx.com

References

  1. Witkop, CJ Jr. & Gorlin, R.J. Arch. Derm. 84: 762-771, 1961
  2. Terrinoni, A et al. J. Invest. Derm. 114: 388-391, 2000
  3. Rugg, EL et al. Nature Genet. 11: 450-452, 1995
  4. Richard, G et al. Nature Genet. 11: 453-455, 1995
KRT5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT5
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1681
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Jeřábková et al. British J of Derm 162:1004-1013, 2009
  2. Arin et al. British J of Dermatol, 162:1365-1369, 2009
  3. Koss-Harnes D et. al. 2002 J Invest Simplex Dermatol. 118:87-93
  4. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
  5. Rugg et al. J Invest Dermatol 2006
  6. Pfendner EG, et al 2005. J Invest Dermatol 125:239-243
  7. Smith F.2003. Am J Clin Dermatol. 4:347-64
KRT5/14 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT14, KRT5
  • Confirmation of a clinical diagnosis
  • Genetic counseling and recurrence risk calculation
  • Capillary Sequencing

Ordering

168
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Jeřábková et al. British J of Derm 162:1004-1013, 2009
  2. Koss-Harnes D et. al. 2002 J Invest Dermatol. 118:87-93
  3. Arin et al. British J of Dermatol, 162:1365-1369, 2009
  4. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8.
  5. Rugg et al. J Invest Dermatol 2006
  6. Pfendner EG, et al 2005. J Invest Dermatol 125:239-243
  7. Smith F.2003. Am J Clin Dermatol. 4:347-64
KRT6A Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT6A
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2094
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
  2. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
  3. Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001
KRT6A, KRT16 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT16, KRT6A
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2091
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
  2. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
  3. Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001
KRT6B Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT6B
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2096
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001
  2. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
  3. Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
KRT6B, KRT17 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT17, KRT6B
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2092
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
  2. Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
  3. Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001
KRT9 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT9
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

208
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Reis et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet. 1994: 6(2):174-9
  2. Terrinoni et al. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. Eur J Dermatol. 2004:14(6):375-8
  3. Kon et al. L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. Br J Dermatol. 2006;155(3):624-6
LAM5 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1631
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Almaani et al., 2008 Br. J Dermatol 160:1094-1097
  2. Varki et al., 2006 J Medical Genet 43:641-52
  3. Inoue et al., 2000 J Invest Dermatol 114:1061-4
LAMA3 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

LAMA3
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1634
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Almaani et al., 2008 Br. J Dermatol 160:1094-1097
  2. Varki et al 2006 J Medical Genet 43:641-52
  3. Inoue et al 2000 J Invest Dermatol. 114:1061-4
LAMB3 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

LAMB3
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1632
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Varki et al 2006 J Medical Genet 43:641-52
  2. Inoue et al 2000 J Invest Dermatol. 114:1061-4
  3. Almaani et al., 2008 Br. J Dermatol 160:1094-1097
LAMC2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

LAMC2
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

1633
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Varki et al 2006 J Medical Genet 43:641-52
  2. Inoue et al 2000 J Invest Dermatol. 114:1061-4
  3. Almaani et al., 2008 Br. J Dermatol 160:1094-1097
MBTPS2 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

MBTPS2
  • Confirmation of a clinical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis for known familial mutations
  • Capillary Sequencing

Ordering

693
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Oeffner et al., (2009). Am J Hum Genet 84: 459-467.
  2. Naiki et al., (2011). Am J Med Genet Part A 158A: 97-102.
  3. Aten et al., (2010). Hum Mutat 31(10): 1125-1133.
PLEC1 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PLEC1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

3481
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Pfendner E et.al. 2005 Exp Dermatol. 14:241-9
  2. Lepinard et al 2000 Prenat Diagn 20:70-5
  3. Azarian et al 2006 Prenat Diagn 26:57-9.
  4. Koss-Harnes D et. al. 2002 J Invest Dermatol. 118:87-93
  5. Schröder R et. al 2002 J Neuropathol Exp Neurol. 61:520-30
  6. Schara U et. al. 2004 Eur J Pediatr. 163:218-22
  7. Koss- Harnes D et. al. 2004 Acta Derm Venereol. 84:124-31
  8. Takahashi Y et. al. 2005 J Dermatol Sci. 37:87-93
  9. Rezniczek GA et. al. 2003 Hum Mol Genet. 12:3181-94
  10. Mellerio JE et. al. 1997 Br J Dermatol. 137:898-906
  11. Takizawa Y et. al. 1999 J Invest Dermatol. 112:109-12
  12. Kunz M et. al. 2000 J Invest Dermatol. 114:376-80
  13. Bauer JW et. al. 2001 Am J Pathol.158:617- 25
  14. Charlesworth A et. al. 2003 J Invest Dermatol. 121:1344-8
  15. Elliott CE et. al. 1997 Genomics 42:115-25
  16. Gache et al 1998 J Invest Dermatol 111:914-6
  17. Dolan et al 1993. Am J Med Genet 47:395-400
  18. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
  19. McMillan JR et. al. 2007 Muscle Nerve.35:24-35
  20. Shimizu H et. al. 1999 J Am Acad Dermatol. 41:950-6
  21. Shimizu H et. al 1999 Arch Dermatol Res. 291:531-7
  22. Dang M et. al 1998. Lab Invest. 78:195-204
  23. Chavanas S et. al. 1996 J Clin Invest. 98:2196-200
  24. Pulkkinen L, et. al. 1996 Hum Mol Genet. 5:1539-46
  25. Smith FJ et. al. 1996 Nat Genet.13:450-7
  26. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  27. Rouan F et. al.2000 J Invest Dermatol. 114:381-7
  28. McLean WH et. al..1996 Genes Dev.10:1724-35
  29. Nakamura H et. al. 2005 J Mol Diagn.7:28-35
  30. Sawamura D et. al 2007 J Invest Dermatol. 127:1537-40
PLEC1 Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PLEC1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Capillary Sequencing

Ordering

3482
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Pfendner E et.al. 2005 Exp Dermatol. 14:241-9
  2. Mellerio JE et. al. 1997 Br J Dermatol. 137:898-906
  3. Kunz M et. al. 2000 J Invest Dermatol. 114:376-80
  4. Bauer JW et. al. 2001 Am J Pathol.158:617- 25
  5. Charlesworth A et. al. 2003 J Invest Dermatol. 121:1344-8
  6. Rezniczek GA et. al. 2003 Hum Mol Genet. 12:3181-94
  7. Elliott CE et. al. 1997 Genomics 42:115-25
  8. Gache et al 1998 J Invest Dermatol 111:914-6
  9. Dolan et al 1993. Am J Med Genet 47:395-400
  10. Lepinard et al 2000 Prenat Diagn 20:70-5
  11. Azarian et al 2006 Prenat Diagn 26:57-9
  12. Koss-Harnes D et. al. 2002 J Invest Dermatol. 118:87-93
  13. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
  14. McMillan JR et. al. 2007 Muscle Nerve.35:24-35
  15. Takahashi Y et. al. 2005 J Dermatol Sci. 37:87-93
  16. Koss- Harnes D et. al. 2004 Acta Derm Venereol. 84:124-31
  17. Schröder R et. al 2002 J Neuropathol Exp Neurol. 61:520-30
  18. Schara U et. al. 2004 Eur J Pediatr. 163:218-22
  19. Shimizu H et. al. 1999 J Am Acad Dermatol. 41:950-6
  20. Takizawa Y et. al. 1999 J Invest Dermatol. 112:109-12
  21. Dang M et. al 1998. Lab Invest. 78:195-204
  22. Pulkkinen L, et. al. 1996 Hum Mol Genet. 5:1539-46
  23. Smith FJ et. al. 1996 Nat Genet.13:450-7
  24. McLean WH et. al..1996 Genes Dev.10:1724-35
  25. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  26. Rouan F et. al.2000 J Invest Dermatol. 114:381-7
  27. Nakamura H et. al. 2005 J Mol Diagn.7:28-35
  28. Sawamura D et. al 2007 J Invest Dermatol. 127:1537-40
  29. Chavanas S et. al. 1996 J Clin Invest. 98:2196-200
  30. Shimizu H et. al 1999 Arch Dermatol Res. 291:531-7
PORCN Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PORCN
  • 1. Confirmation of a clinical diagnosis
  • 2. Differentiation between de novo and familial cases
  • 3. Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

306
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Goltz, RW. Arch Dermatol 128:1108-1111, 1992
  2. Grzeschik K-H et al. Nat Genet 2007 Jul;39(7):833-5
  3. Wang X et al. Nat Genet 2007 Jul;39(7):836-8
  4. Leoyklang P et al. Clin Genet 2008 Apr; 73(4):373-379
  5. Gorlin et al., (2001) Syndromes of the Head and Neck, London, 4th ed. 571-576
  6. Fernandes et al., (2010) Genet Test Mol Biomarkers 14(5):716-720
  7. Bornholdt et al., (2009) Hum Mutat 30:E618-E628
SLC27A4 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

SLC27A4
  • Confirmation of a clinical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis for known familial mutations
  • Capillary Sequencing

Ordering

712
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Khnykin et al (2012) J Am Acad Dermatol 66:606-616
  2. Klar et al (2009) Am J Hum Genet 85:248-253
  3. Morice-Picard et al (2010) Am J Med Genet 15A:2664-2665
  4. Sobol et al (2011) BMC Research Notes 4:90
SPINK5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SPINK5
  • Confirmation of the clinical diagnosis
  • To distinguish NTS from other forms of NCIE
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

127
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 795.79 Other and unspecified nonspecific immunological findings, Raised antibody titer, Raised level of immunoglobulins
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Chavanas et al. Nat Genet. 25(2):141-142, 2000
  2. Sprecher et al. J Invest Dermatol 117(2):179-87, 2001
  3. Bitoun et al. J Invest Dermatol 118:352-361, 2002a
  4. Bitoun et al. Prenat Diagn. 22(2):121-126, 2002b
  5. Richard et al. Netherton Syndrome: J Invest Dermatol 122:483A, 2004
TGFBR1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TGFBR1
  • Confirmation of the clinical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis in families with a known pathogenic variant
  • Capillary Sequencing

Ordering

512
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ferguson-Smith J. Br J Dermatol 46:267-72, 1934
  2. Goudie DR et al. Nat Genet 43:365-371, 2011
  3. Loeys B et al. N Engl J Med 355:788-98, 2006.
  4. Stheneur C et al. Hum Mutat 29:E284-5, 2008
  5. Breckpot J et al. Eur J Med Genet 53:408-10, 2010
TGM1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TGM1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

125
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Huber M, et al., Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-8 (1995)
  2. Russell LJ, et al., Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-83 (1995)
  3. Shevchenko YO, et al., Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet 106:492-9 (2000).
WNT10A Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

WNT10A
  • Confirmation of a clinical diagnosis
  • Definition of the molecular basis for ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

373
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Bohring et al. Am J Hum Genet. 85:97-105, 2009
  2. Adaimy et al. Am J Hum Genet. 81:821-828, 2007

Dysmorphology and MCA Disorders

Comprehensive NF Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NF1, NF2, SMARCB1, SPRED1
  • Establish or confirm a clinical diagnosis
  • Identification of at-risk family members
  • Development of an appropriate evaluation and management Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • MLPA
  • Next-Gen Sequencing

Ordering

961
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x1, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)
CBL/NRAS Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition Specimen Requirements

Test Details

CBL, NRAS
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Recurrence risk
  • Next-Gen Sequencing

Ordering

535
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81479x2
No
Yes
  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Cordeddu Nat Genet 41:1022-1026, 2009
  2. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  3. Kerr B et al. J Med Genet. 43:401-5, 2006
  4. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  5. White SM. Am J Med Genet A. 136:128-35, 2005
  6. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  7. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  8. Schubbert et al., Nature Genetics 38:331-336, 2006
  9. Carta C et al. Am J Hum Genet 79:129-135, 2006
  10. Roberts et al. Nat Genet 39:70-4, 2007
  11. Tartaglia et al. Nat Genet. 39:75-9, 2007
  12. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  13. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  14. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  15. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  16. Narumi et al. Am J Med Genet, 143:799-809, 2007
  17. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  18. Costello JM. Am J Med Genet. 62:199-201, 1996
  19. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  20. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
CHD7 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CHD7
  • Confirmation of the clinical diagnosis
  • Differential diagnosis from the 22q11 deletion spectrum (VCFS/DiGeorge syndrome), VACTERL association, PAX2 mutations and Retinoic embryopathy
  • Development of appropriate evaluation and management plan
  • Capillary Sequencing

Ordering

2261
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81407x1
Yes
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Stromland et al., (2005) Am J Med Genet 133A:331-339
  2. Vissers et al., (2004) Nat Genet 36:955- 957
  3. Jongmans et al., (2006) J Med Genet 43:306-314
  4. Lalani et al., (2006) Am J Hum Genet 78:303-314
COL4A5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

COL4A5
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and autosomal recessive or dominant forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

281
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81408x1
No
Yes
  • 585.9 Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
  • 743.8 Other specified anomalies of eye
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 583.9 With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
* For price inquiries please email zebras@genedx.com

References

  1. Arrondel C et al (2004) Kidney Int 65:2030-2040
  2. Gross O et al (2002). Nephrol Dial Transplant 17:1218-1227
  3. Hertz JM et al (2001). Human Mutation 18:141-148
  4. Kashtan C (1999). Medicine (Baltimore) 78:338-360
  5. Kashtan C (Updated 01-08-2007) Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
  6. Martin, P et al (1998). J Am Soc Nephrol 9:2291-2301
  7. Plant K et al (1999). Human Mutation 13:124-132
  8. Vetrie et al (1992) Genomics 14(3):624-633
CREBBP Select Exons Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2921
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
  2. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  3. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  6. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  7. Thienpont B et Al., (2010) J Med Genet 47: 155-161.
CREBBP Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing

Ordering

2922
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Thienpont B et Al., (2010) J Med Genet 47: 155-161.
  2. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  3. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  6. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  7. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
CREBBP Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2923
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81407x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
  2. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  3. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  6. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  7. Thienpont B et Al., (2010) J Med Genet 47: 155-161.
EFNB1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EFNB1
  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing

Ordering

3251
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
* For price inquiries please email zebras@genedx.com

References

  1. Wieland, I. et al. Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome. Am J Hum Genet. 74:1209-1215, 2004.
  2. Twigg, S. et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. PNAS. 101:8652-8657, 2004.
  3. Wieland, I. et al. Dissecting the molecular mechanism in craniofrontonasal syndrome: differential mRNA expression of mutant EFBN1 and the cellular mosaic. Eur J Hum Genet. 16: 184-191, 2008.
  4. Twigg, S. et al. The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males. Am J Hum Genet. 78:999- 1010, 2006.
  5. Wieland, I. et al. Twenty-Six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS) Hum. Mutat. 26:113-118, 2005.
  6. Wieland, I. et al. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clin Genet. 72:506-516, 2007.
EYA1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EYA1
  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

315E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89.
  2. Smith, R. Branchiootorenal Syndrome. (Mar 2008).
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349.
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online.
  5. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131.
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327.
  7. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095.
FGFR1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

FGFR1
  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members
  • Capillary Sequencing

Ordering

2402
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 253.4 Other anterior pituitary disorders, Isolated or partial deficiency of an anterior pituitary hormone, other than growth hormone Prolactin deficiency
* For price inquiries please email zebras@genedx.com

References

  1. Hou et al., J Formos Med Assoc 98(6):448(1999)
  2. Pitteloud et al,. PNAS 103(16):6281 (2006)
  3. Oliveira et al., J Clin Endo Metab 86(4):1532 (2001)
  4. Sato et al., J Clin Endo Metab 89(3):1079 (2004)
  5. Albuisson et al., Hum Mut 25(1):98-9 (2005)
  6. Dode et al., Nat Genet 33(4):463 (2003)
  7. Hardelin et al., Hum Mol Genet 2(4)373-377 (1993)
GLI3 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Exon Array CGH

Ordering

472
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 225 Benign neoplasm of brain and other parts of nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1)
  • 376.41 Hypertelorism of orbit
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 748.3 Other anomalies of larynx, trachea, and bronchus, Absence or agenesis of: bronchus larynx trachea, Anomaly (of): cricoid cartilage, epiglottis thyroid cartilage, tracheal cartilage; Atresia (of): epiglottis, glottis, larynx trachea Cleft thyroid, cartilage, congenital Congenital: dilation, trachea stenosis: larynx trachea tracheocele Diverticulum: bronchus trachea Fissure of epiglottis Laryngocele Posterior cleft of cricoid cartilage (congenital) Rudimentary tracheal bronchus Stridor, laryngeal, congenital
  • 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 755.1 Syndactyly Symphalangy Webbing of digits
* For price inquiries please email zebras@genedx.com

References

  1. Furniss et al., (2009) J Med Genet 46:730-735.
  2. Elson et al., (2002) J Med Genet 39:804-806
  3. Debeer et al., (2003) Am J Med Genet Part A 120A:49-58
  4. Biesecker et al., (2008) Orphanet J Rare Dis 3:10
  5. Biesecker (2006) J Med Genet 43:465-469
  6. Balk and Biesecker, (2008) Am J Med Genet Part A 146A:548-557
GLI3 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

4711
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 225 Benign neoplasm of brain and other parts of nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1)
  • 376.41 Hypertelorism of orbit
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 748.3 Other anomalies of larynx, trachea, and bronchus, Absence or agenesis of: bronchus larynx trachea, Anomaly (of): cricoid cartilage, epiglottis thyroid cartilage, tracheal cartilage; Atresia (of): epiglottis, glottis, larynx trachea Cleft thyroid, cartilage, congenital Congenital: dilation, trachea stenosis: larynx trachea tracheocele Diverticulum: bronchus trachea Fissure of epiglottis Laryngocele Posterior cleft of cricoid cartilage (congenital) Rudimentary tracheal bronchus Stridor, laryngeal, congenital
  • 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 755.1 Syndactyly Symphalangy Webbing of digits
* For price inquiries please email zebras@genedx.com

References

  1. Furniss et al., (2009) J Med Genet 46:730-735.
  2. Elson et al., (2002) J Med Genet 39:804-806
  3. Debeer et al., (2003) Am J Med Genet Part A 120A:49-58
  4. Biesecker et al., (2008) Orphanet J Rare Dis 3:10
  5. Biesecker (2006) J Med Genet 43:465-469
  6. Balk and Biesecker, (2008) Am J Med Genet Part A 146A:548-557
GLI3 Remaining Exons Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Exon Array CGH

Ordering

4712
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 225 Benign neoplasm of brain and other parts of nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1)
  • 376.41 Hypertelorism of orbit
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 748.3 Other anomalies of larynx, trachea, and bronchus, Absence or agenesis of: bronchus larynx trachea, Anomaly (of): cricoid cartilage, epiglottis thyroid cartilage, tracheal cartilage; Atresia (of): epiglottis, glottis, larynx trachea Cleft thyroid, cartilage, congenital Congenital: dilation, trachea stenosis: larynx trachea tracheocele Diverticulum: bronchus trachea Fissure of epiglottis Laryngocele Posterior cleft of cricoid cartilage (congenital) Rudimentary tracheal bronchus Stridor, laryngeal, congenital
  • 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 755.1 Syndactyly Symphalangy Webbing of digits
* For price inquiries please email zebras@genedx.com

References

  1. Elson et al., (2002) J Med Genet 39:804-806
  2. Furniss et al., (2009) J Med Genet 46:730-735.
  3. Debeer et al., (2003) Am J Med Genet Part A 120A:49-58
  4. Biesecker et al., (2008) Orphanet J Rare Dis 3:10
  5. Biesecker (2006) J Med Genet 43:465-469
  6. Balk and Biesecker, (2008) Am J Med Genet Part A 146A:548-557
GPC3 Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GPC3
  • Confirmation of a clinical diagnosis
  • Carrier testing in individuals with a known familial GPC3 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

415E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 750.15 Macroglossia Congenital hypertrophy of tongue
  • 775.6 Neonatal hypoglycemia
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
  2. Lindsay, et al., (1997) J. Med. Genet. 34:480-483
  3. Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
  4. Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
  5. Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
  6. Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
  7. Pilia et al., (1996) Nat Genet 12:241-247
  8. Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
  9. Lapunzina (2005) Am J Med Genet C 137C:53-71
  10. Neri, et al., (1998) Am. J. Hum. Genet. 79:279-283
GPC3 Gene Sequencing (Males)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GPC3
  • Confirmation of a clinical diagnosis
  • Carrier testing in individuals with a known familial GPC3 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

415
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 750.15 Macroglossia Congenital hypertrophy of tongue
  • 775.6 Neonatal hypoglycemia
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
  2. Lindsay, et al., (1997) J. Med. Genet. 34:480-483
  3. Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
  4. Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
  5. Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
  6. Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
  7. Pilia et al., (1996) Nat Genet 12:241-247
  8. Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
  9. Neri, et al., (1998) Am. J. Hum. Genet. 79:279-283
  10. Lapunzina (2005) Am J Med Genet C 137C:53-71
HOXD13 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HOXD13
  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

503
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 755.00 Polydactyly, unspecified digits Supernumerary digits
  • 755.1 Syndactyly Symphalangy Webbing of digits
* For price inquiries please email zebras@genedx.com

References

  1. Goodman FR et al., Proc Natl Acad Sci 8;94(14):7458-63, 1997.
  2. Goodman FR et al., Clin Genet.59(1):1-11. 2001.
  3. Goodman FR et al., Am J. Hum Genet. 70:547-555, 2002.
  4. Johnson D et al., Am J. Hum Genet. 72:984-997, 2003.
  5. Furniss D et al., J Med Genet. 46:730-735, 2009.
  6. Tuzel E et al., Urology. 70(1):161-164, 2007.
  7. Schwabe GC et al., Handchir Mikrochir Plast Chir. 36(2-3):85-97, 2004.
  8. Zhao X et al. Am J Hum Gen 80:361-371, 2007.
HRAS Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HRAS
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Recurrence risk
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

191
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Cordeddu Nat Genet 41:1022-1026, 2009
  2. White SM. Am J Med Genet A. 136:128-35, 2005
  3. Kerr B et al. J Med Genet. 43:401-5, 2006
  4. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  5. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  6. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  7. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  8. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  9. Narumi et al. Am J Med Genet, 143:799-809, 2007
  10. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  11. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  12. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  13. Roberts et al. Nat Genet 39:70-4, 2007
  14. Carta C et al. Am J Hum Genet 79:129-135, 2006
  15. Schubbert et al., Nature Genetics 38:331-336, 2006
  16. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  17. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  18. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  19. Costello JM. Am J Med Genet. 62:199-201, 1996
  20. Tartaglia et al. Nat Genet. 39:75-9, 2007
IRF6 Exon 4 Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

IRF6
  • Confirmation of a clinical diagnosis
  • Identification of a genetic basis for cleft lip/palate in a patient/family
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

248
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 749.2 Cleft palate with cleft lip, Cheilopalatoschisis
  • 750.25 Congenital fistula of lip, Congenital (mucus) lip pits
* For price inquiries please email zebras@genedx.com

References

  1. Kondo, S. et al., (Letter) Nature Genet. 32: 285-89, 2002
  2. Peyrard-Janvid, M. et al., Eur J Human Genet. 13: 1261-7, 2005
  3. Kayano, S. et al., J Hum Genet. 48:662-628, 2003
IRF6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

IRF6
  • Confirmation of a clinical diagnosis
  • Identification of a genetic basis for cleft lip/palate in a patient/family
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

253
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 749.2 Cleft palate with cleft lip, Cheilopalatoschisis
  • 750.25 Congenital fistula of lip, Congenital (mucus) lip pits
* For price inquiries please email zebras@genedx.com

References

  1. Kondo, S. et al., (Letter) Nature Genet. 32: 285-89, 2002
  2. Peyrard-Janvid, M. et al., Eur J Human Genet. 13: 1261-7, 2005
  3. Kayano, S. et al., J Hum Genet. 48:662-628, 2003
JAG1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

JAG1
  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1004
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81407x1
Yes
Yes
  • 576.8 Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 571.9 Unspecified chronic liver disease without mention of alcohol
* For price inquiries please email zebras@genedx.com

References

  1. Warthen, DM. et al., Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate. Hum Mutat. 27: 436-443, 2006.
  2. Kamath, BM. et al., Consequences of JAG1 mutations. J Med Genet. 40: 891-895, 2003.
JAG1 Tier 1

Forms and Documents

Test Info Sheet Test Requisition

Test Details

JAG1
  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1001
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 576.8 Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 746.02 Stenosis, congenital
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 571.9 Unspecified chronic liver disease without mention of alcohol
* For price inquiries please email zebras@genedx.com

References

  1. Warthen, DM. et al., Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate. Hum Mutat. 27: 436-443, 2006
  2. Kamath, BM. et al., Consequences of JAG1 mutations. J Med Genet. 40: 891-895, 2003
JAG1 Tier 2

Forms and Documents

Test Info Sheet Test Requisition

Test Details

JAG1
  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1002
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 576.8 Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 746.02 Stenosis, congenital
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 571.9 Unspecified chronic liver disease without mention of alcohol
* For price inquiries please email zebras@genedx.com

References

  1. Warthen, DM. et al., Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate. Hum Mutat. 27: 436-443, 2006
  2. Kamath, BM. et al., Consequences of JAG1 mutations. J Med Genet. 40: 891-895, 2003
KAL1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KAL1
  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members
  • Capillary Sequencing

Ordering

2401
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 253.4 Other anterior pituitary disorders, Isolated or partial deficiency of an anterior pituitary hormone, other than growth hormone Prolactin deficiency
* For price inquiries please email zebras@genedx.com

References

  1. Hardelin et al., Hum Mol Genet 2(4)373-377 (1993)
  2. Dode et al., Nat Genet 33(4):463 (2003)
  3. Albuisson et al., Hum Mut 25(1):98-9 (2005)
  4. Sato et al., J Clin Endo Metab 89(3):1079 (2004)
  5. Oliveira et al., J Clin Endo Metab 86(4):1532 (2001)
  6. Pitteloud et al,. PNAS 103(16):6281 (2006)
  7. Hou et al., J Formos Med Assoc 98(6):448(1999)
KMT2D Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KMT2D
  • Confirmation of clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation in the MLL2 gene
  • Capillary Sequencing

Ordering

583
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Wessels et al., (2002) Clinical Dysmorphol 11(2):95–102.
  2. Paulussen et al., (2010) Hum Mutat 32:E2018-E2025.
  3. Ng et al., (2010) Nat Genet 42(9):790-793.
  4. Li et al., (2011) Hum Genet 130(6):715-724.
  5. Lederer et al., (2012) Am J Hum Genet 90:119-124.
  6. Hannibal et al., (2011) Am J Med Genet A 155(7): 1511-1516.
MYCN Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MYCN
  • Confirmation of a clinical diagnosis
  • To differentiate Feingold syndrome from VATER/VACTERL and other disorders with esophageal atresia
  • Risk assessment
  • Prenatal diagnosis in families with an affected child who has a known mutation
  • Capillary Sequencing

Ordering

260
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Celli, J. et al., (2003)Feingold syndrome: clinical review and genetic mapping Am J Med Genet. 122A: 294-300
  2. Van Bokhoven, H. et al. (2005) MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.Nat Genet. 37: 465-467
  3. Van Bokhoven, H. (2006) Personal communication
  4. Celli, J. et al. (2000) Familial syndromic esophageal atresia maps to 2p23-p24.Am J Hum Genet 66:436-444
  5. Marcelis C. et al., (2008) Genotype-Phenotype Correlations in MYCN-Related Feingold Syndrome. Hum Mut 29(9):1125-1132
NF1 Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NF1, SPRED1
  • Establish or confirm a clinical diagnosis
  • Identification of at-risk family members
  • Development of an appropriate evaluation and management Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • MLPA
  • Next-Gen Sequencing

Ordering

962
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)
NF1 Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

NF1
  • Establish or confirm a clinical diagnosis
  • Identification of at-risk family members
  • Development of an appropriate evaluation and management
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Capillary Sequencing
  • MLPA

Ordering

J660
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)
NF2 Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

NF2, SMARCB1
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

963
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)
Noonan and RASopathies Panel

Forms and Documents

Test Info Sheet Specimen Requirements Test Requisition

Test Details

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Recurrence risk
  • Next-Gen Sequencing

Ordering

534
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81442x1
Yes
Yes
  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  2. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  3. Schubbert et al., Nature Genetics 38:331-336, 2006
  4. Carta C et al. Am J Hum Genet 79:129-135, 2006
  5. Roberts et al. Nat Genet 39:70-4, 2007
  6. Tartaglia et al. Nat Genet. 39:75-9, 2007
  7. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  8. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  9. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  10. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  11. Narumi et al. Am J Med Genet, 143:799-809, 2007
  12. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  13. Costello JM. Am J Med Genet. 62:199-201, 1996
  14. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  15. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  16. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  17. Kerr B et al. J Med Genet. 43:401-5, 2006
  18. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  19. White SM. Am J Med Genet A. 136:128-35, 2005
  20. Cordeddu Nat Genet 41:1022-1026, 2009
  21. Clayton-Smith et al. (2011) Am J Hum Genet 89(5):675-681
  22. Campeau et al. (2012) Am J Hum Genet 90:282-289
  23. Simpson et al. (2012) Am J Hum Genet 90:290-294
NSD1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NSD1
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

406
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Tatton-Brown and Rahman (2004) Clin Dysmorphol 13: 199-204
  2. Tatton-Brown et al., (2005) Am J Hum Genet 77: 193-204
  3. Lapunzina (2005) Am J Med Genet C 137C:53-71
  4. Baujat and Cormier-Daire (2007) Orph J Rare Dis 2:36
  5. Kurotaki et al., (2003) Hum Mutat 22:378-87
  6. Visser et al., (2005) J Med Genet 42e
  7. Waggoner et al., (2005) Genet Med 7: 524-33
  8. Saugier-Veber et al., (2007) Hum Mutat 28(11):1098-1107
  9. Douglas et al., (2005) J Med Genet 42:e56
  10. Rio et al., (2003) J Med Genet 40:436-440
  11. Cecconi et al., (2005) Am J Med Genet 134A:247-253
  12. Turkmen et al., (2003) Am J Med Genet 137C:24-31
OFD1 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OFD1 (CXORF5)
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Identify females that are at risk for PKD to allow for appropriate screening and treatment
  • Differentiation from other types of OFD
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3641
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Nowaczyk, M. et al. 2003. Am J Med Genet. 123A:179-182
  2. Prattichizzo, C. et al. 2008. Hum Mutat. 29(10):1237-1246
  3. Ferrante, M. et al. 2001. Am J Hum Genet. 68:569-576
  4. Thauvin-Robinet, C. et al. 2008. Hum Mutat Online. 29:E320-329
  5. Thauvin-Robinet, C. et al. 2006. J Med Genet. 43:54- 61
OFD1 Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OFD1 (CXORF5)
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Identify females that are at risk for PKD to allow for appropriate screening and treatment
  • Differentiation from other types of OFD
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3642
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Prattichizzo, C. et al. 2008. Hum Mutat. 29(10):1237-1246
  2. Thauvin-Robinet, C. et al. 2006. J Med Genet. 43:54- 61
  3. Thauvin-Robinet, C. et al. 2008. Hum Mutat Online. 29:E320-329
  4. Ferrante, M. et al. 2001. Am J Hum Genet. 68:569-576
  5. Nowaczyk, M. et al. 2003. Am J Med Genet. 123A:179-182
PEPD Gene Sequencing

Forms and Documents

Test Requisition

Test Details

PEPD
  • Confirmation of a clinical diagnosis
  • Carrier Testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

761
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
PTPN11 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

PTPN11
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array

Ordering

192
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  2. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  3. Schubbert et al., Nature Genetics 38:331-336, 2006
  4. Carta C et al. Am J Hum Genet 79:129-135, 2006
  5. Roberts et al. Nat Genet 39:70-4, 2007
  6. Tartaglia et al. Nat Genet. 39:75-9, 2007
  7. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  8. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  9. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  10. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  11. Narumi et al. Am J Med Genet, 143:799-809, 2007
  12. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  13. Costello JM. Am J Med Genet. 62:199-201, 1996
  14. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  15. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  16. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  17. Kerr B et al. J Med Genet. 43:401-5, 2006
  18. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  19. White SM. Am J Med Genet A. 136:128-35, 2005
  20. Cordeddu Nat Genet 41:1022-1026, 2009
  21. Sobreira NL., et al., (2010) PLoS Genet. Jun 17;6(6): e1000991
  22. Vink JR et al., (2005) Eur J Hum Genet 13:470-474.
  23. Bowen ME., et al., (2011) PLos Genet. Apr 7(4):e1002050
RIT1 Gene Sequencing

Forms and Documents

Test Requisition

Test Details

RIT1
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

815
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
SHOC2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SHOC2
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Genetic counseling, especially regarding recurrence risk
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

389
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81405x1
No
Yes
  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Cordeddu Nat Genet 41:1022-1026, 2009
  2. White SM. Am J Med Genet A. 136:128-35, 2005
  3. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  4. Kerr B et al. J Med Genet. 43:401-5, 2006
  5. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  6. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  7. Costello JM. Am J Med Genet. 62:199-201, 1996
  8. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  9. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  10. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  11. Schubbert et al., Nature Genetics 38:331-336, 2006
  12. Carta C et al. Am J Hum Genet 79:129-135, 2006
  13. Roberts et al. Nat Genet 39:70-4, 2007
  14. Tartaglia et al. Nat Genet. 39:75-9, 2007
  15. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  16. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  17. RodriguezViciana, et al. Science 311:1287-90, 2006
  18. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  19. Narumi et al. Am J Med Genet, 143:799-809, 2007
  20. Aoki Y et al. Nat Genet. 37:1038-40, 2005
SIX1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SIX1
  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

317
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89
  2. Smith, R. Branchiootorenal Syndrome. Disease Overview. In: GeneClinics: Clinical Genetic Information Resource [database online]
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online
  5. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327
  7. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131
SPRED1 Gene Sequencing

Forms and Documents

Test Requisition

Test Details

SPRED1
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

816
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com
TBX1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TBX1
  • Confirmation of the clinical diagnosis if FISH testing for the common 3Mb deletion of 22q11.2 is negative
  • Differential diagnosis between syndromes that have developmental delay and other dysmorphic features
  • Development of an appropriate evaluation and management plan
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

358
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 749 Cleft palate and cleft lip
  • 315.3 Developmental speech or language disorder
  • 759.8 Other specified anomalies
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. McDonald-McGinn, D. et al. (2001) Genet Med. 3(1): 23-29;
  2. Sullivan, K. et al. (1998) Clin Immun Immunopath. 86(2): 141-146
  3. Solot, C. et al. (2000) J Commun Disord. 33:187-204
  4. Yagi, H. et al. (2003) The Lancet. 362: 1366-1373
  5. Torres-Juan, L. et al. (2007) European J of Human Genet. 15: 658-663
  6. Zweier, C. et al. (2007) Am J Hum Genet. 80(3): 510-517
  7. Paylor, R. et al. (2006) www.pnas.org. 103(20): 7729-7734
  8. DECIPHER database: https://decipher.sanger.ac.uk/application/syndrome/16
TBX5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TBX5
  • Confirmation of a clinical diagnosis
  • Identification of the genetic basis of observed cardiac/limb defects in affected individuals
  • Prenatal diagnosis - in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

2361
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. McDermott, D. et al., Pediatr Res. 58: 981-86, 2005
  2. Heinritz, W. et al., Heart 91: 383-384, 2005
  3. Brassington, A. et al., Am J Hum Genet. 73: 74-85, 2003
  4. Akrami, SM. et al. J Med Genet. 38:E44, 2001
  5. Fan, C. et al. J Med Genet. 40:e29, 2003
  6. Borozdin, W. et al. Hum Mutat. 27:975-976, 2006
TCOF1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TCOF1
  • Confirmation of clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation in the TCOF1 gene
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

653
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.4 Coloboma and other anomalies of anterior segment
  • 389.00 Conductive hearing loss, unspecified
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 524.10 Unspecified anomaly Prognathism Retrognathism
  • 738.12 Zygomatic hypoplasia
* For price inquiries please email zebras@genedx.com

References

  1. Bowman et al., (2012) Eur J Hum Genet 20(7): 769-777.
  2. Conte et al., (2011) BMC Medical Genetics 12: 125.
  3. Dauwerse et al., (2011) Nat Genet 43(1): 20-22.
  4. Dixon et al., (1997) Genome Res 7(3): 223-234.
  5. Dixon et al., (2004) Am J Med Genet A 127A:244-248.
  6. Edwards et al., (1996) J Med Genet 33:603-606.
  7. Edwards et al., (1997) Am J Hum Genet 60:515-524.
  8. Ellis et al., (2002) J Orthod 29(4):293-297.
  9. Fisher E., (2011) Clin Genet 79(4): 330-332.
  10. Hsu et al., (2002) Ultrasound Obstet Gynecol 19:413-422.
  11. Marszalek et al., (2002) J Appl Genet 43(2): 223-233.
  12. Massotti et al., (2009) BMC Medical Genetics 10:136.
  13. Rotten et al., (2002) Ultrasound Obstet Gynecol 19:122-130.
  14. So et al., (2004) Gene 328: 49-57.
  15. Splendore et al., (2000) Hum Mut 16:315-322.
  16. Splendore et al., (2002) J Med Genet 39:493-495.
  17. Splendore et al., (2005) Hum Mut 25:429- 434.
  18. Tanaka et al., (2002) Ultrasound Obstet Gynecol 19:413-422.
  19. Trainor et al., (2009) Eur J Hum Genet 17:275-283.
TP63 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TP73L (TP63)
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

158
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Rinne, T. et al., (2006) Update. Am J Med Genet A. 140A: 1396-1406
  2. van Bokhoven, H. et al., (2001) Am J Hum Genet. 69: 481-92, 2001
  3. van Bokhoven, H. and Brunner, H., (2002) Am J Hum Genet. 71: 1-13
TP63 Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TP73L (TP63)
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

1581
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. van Bokhoven, H. and Brunner, H., (2002) Am J Hum Genet. 71: 1-13
  2. Rinne, T. et al., (2006) Update. Am J Med Genet A. 140A: 1396-1406
  3. van Bokhoven, H. et al., (2001) Am J Hum Genet. 69: 481-92, 2001

Endocrine Disorders

CASR Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CASR
  • Distinguish FHH from primary hyperparathyroidism and other disorders of calcium homeostasis
  • Confirmation of a clinical diagnosis
  • To determine appropriate treatment, including avoidance of parathyroidectomy in FHH patients
  • Prenatal diagnosis in pregnancies at-risk for NSHPT
  • Capillary Sequencing

Ordering

170
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81405x1
No
Yes
  • 275.4 Disorders of calcium metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Pollak et al., (1993) Cell 75:1297-1303
  2. Chou et al., (1995) Am J Hum Genet 56:1075-1079
  3. Pearce et al., (1995) J Clin Invest 96:2683-2692
  4. Pearce et al., (1996) NEJM 335(15):1115-1122
  5. Hendy et al., (2000) Hum Mut 16:281-296
  6. Hendy et al.,(2003) J of Clin Endocrin & Metab 88(8):3674-3681
  7. Warner et al., (2004) J Med Genet 41(3):155-60
  8. Lienhardt et al (2001) J Clin Endocr Metab 86:5313-5323
  9. Thakker (2004) Cell Calcium 35:275-28
  10. Gunn et al (2004) Ann Clin Biochem 41:441-58
  11. Simonds et al., (2002) Medicine (Baltimore) 81:1-26
CDC73 (HRPT2) Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CDC73 (HRPT2)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing

Ordering

173
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
* For price inquiries please email zebras@genedx.com

References

  1. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
  2. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  5. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006
CDC73 (HRPT2) Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CDC73 (HRPT2)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing

Ordering

1731
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
* For price inquiries please email zebras@genedx.com

References

  1. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006
  2. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
  5. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003
CDC73 (HRPT2) Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CDC73 (HRPT2)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing

Ordering

1732
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
* For price inquiries please email zebras@genedx.com

References

  1. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  2. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003
  5. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
PRKAR1A Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PRKAR1A
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

198
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • m884 Carney Complex (Myxomatous tumors)
* For price inquiries please email zebras@genedx.com

References

  1. Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006; 38(7):794-800
  2. Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
  3. Kirschner, Lawrence S et al., Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex Nat Genet 26(1):89-92 (2000)
  4. Groussin et al., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat
  5. Casey, Maired et al., Mutations in the protein kinase A R1alpha regulartory subunit cause familial cardiac myxomas and Carney complex J of Clin Invest 106: R31-R38 (2000)
AAAS Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AAAS
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation(s)
  • Capillary Sequencing

Ordering

219
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 255.4 Corticoadrenal insufficiency
  • 530 Diseases of esophagus Excludes: esophageal varices (456.0-456.2)
  • 337 Disorders of the autonomic nervous system Includes: disorders of peripheral autonomic, sympathetic, parasympathetic, or vegetative system Excludes: familial dysautonomia [Riley-Day syndrome] (742.8)
  • 356 Hereditary and idiopathic peripheral neuropathy
* For price inquiries please email zebras@genedx.com

References

  1. Houlden H et al. (2002) Brain 125: 2681-90
  2. Qin K et al., (2007) Mol Genet Metab 92(4):359-63
  3. Milenkovic T et al., (2010)Eur J Pediatr. 169(11):1323-8
  4. Sandrini F et al., (2001) J Clin Endocrinol. 86: 5433-7
  5. Brooks BP et al., (2005) Clin Genet. 68: 215-21
AR Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AR
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives of an affected male
  • Capillary Sequencing

Ordering

220
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81405x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Hannema et al., (2004) JCEM 89:5815-5822.
  2. Avila et al., (2002) JCEM 87:182-188.
  3. Gottleib et al. (Updated [May 24, 2008]).
  4. Gottlieb et al (2004) Hum Mutat 23:527-533.
  5. Wang et al., (2004) Eur J Hum Genet 12:706-712.
  6. Hiort et al., (1994) Eur J Pediatr 153:317-321.
  7. Albers et al., (1997) J Pediatr 131:386-392.
  8. Batch et al., (1992) Hum Molec Genet 1:497-503.
  9. Ahmed et al., (2000) JCEM. 85:658-665.
SRY Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SRY
  • Confirmation of clinical diagnosis
  • Inconsistency of gender identification between karyotype and ultrasound findings
  • Capillary Sequencing

Ordering

259
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493
  2. Hawkins, J. (1992) Am J Hum Genet 51: 979-984
  3. Scherer et al., (1998) Cytogenet Cell Genet 80:188-192
  4. Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25
  5. Paris et al., (2007) Fertil Steril 88:1437e21-25
  6. Cameron, et al., (1997) Hum Mutat 9: 388-395. Vilain (Updated May 2009).46,XX Testicular Disorder of Sex Development. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online)
POR Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

POR
  • 1. Confirmation of a clinical and/or biochemical diagnosis
  • 2. Carrier testing in at-risk family members
  • 3. Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

339
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Fluck et al. (2004) Curr Opin Pediatr 18:435-441
  2. Reardon et al. (2000) J Med Genet 37:26-32
  3. Scott et al. (2008) Horm Res 69:266-275
  4. Huang et al. (2005) Am J Hum Genet 76:729-749
  5. Fukami et al. (2005) J of Clin Endocrinol Metab 90(1):414-426
CYP19A1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CYP19A1
  • Confirmation of a clinical and/or biochemical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing Reflex to Exon Array

Ordering

340
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bulun SE (2000) Semin Repro Med 18(1):31-39.
  2. Jones et al., (2007) Nat Clin Pract Endocrinol Metab 3(5):414-421.
  3. Shozu et al., (2003) N Engl J Med 348(19)1855-1865.
  4. Stratakis et al., (1998) J Clin Endocrinol Metab 83(4)1348-1357.
  5. Lin et al., (2007) J Clin Endocrinol Metab 92(3):982-990.
  6. Meinhardt et al., (2002) Horm Res 57:145-152.
  7. Bulun et al., (2004) Semin Repro Med 22(1):5-9.
  8. Lanfranco et al., (2008) Bone 43:628-635.
  9. Maffei et al., (2007) Clin Endocrinol 67:218-224.
  10. Herrmann et al., (2002) J Clin Endocrinol Metab 87(12):5476-5484.
  11. Mullis et al., (1997) J Clin Endocrinol Metab 82(6):1739-1745.
  12. Jones et al., (2006) Trends Endocrinol Metab 17(2):53-62.
  13. Conte et al., (1994) J Clin Endocrinol Metab 78(6):1287-1292.
NR5A1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NR5A1
  • To differentiate NR5A1-associated DSD from other disorders causing XY gonadal dysgenesis
  • To determine the etiology of infertility in males with severe spermatogenic failure
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

341
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lin et al., (2006) J Clin Endocrinol Metab 91(8):3048-3054
  2. Bashamboo et al., (2010) Am J Hum Genet 87:505- 512
  3. Kohler et al., (2009) Eur J Endocrinol 161:237-242
  4. Kohler et al., (2008) Hum Mutat 29(1):59-64
  5. Achermann et al., (2002) J Clin Endocrinol Metab 87:1829-1833
  6. Lin et al., (2007) J Clin Endocrinol Metab 92:991-999
  7. Biason-Lauber et al., (2000) Am J Hum Genet 67:1563- 1568
  8. van Silfhout et al., (2009) Eur J Hum Genet 52:157-160
  9. Philibert et al., (2010) Am J Hum Genet 87:505-512
  10. Lin et al., (2008) Sex Dev 2:200-209
  11. Achermann et al., (2001) Mol Cell Endocrinol 185:17-25
  12. Lourenco et al., (2009) N Engl J Med 360:1-11
CYP17A1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CYP17A1
  • Confirmation of a clinical and/or biochemical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis for known familial mutations
  • Capillary Sequencing Reflex to Exon Array

Ordering

402
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yanase T., (1995) J Steroid Biochem Molec Biol 53:153-157.
  2. Yang et al., (2006) J Clin Endocrinol Metab 91:3619-3625.
  3. Imai et al., (1992) Hum Genet 89:95-96.
  4. Costas-Santos et al., (2004) J Clin Endocrinol Metab 89:49-60.
  5. Martin et al., (2003) J Clin Endocrinol Metab 88:5739-5746.
  6. Takeda et al., (2001) Clin Endocrinol 54:751-758.
  7. Auchus et al., (2001) Endocrinol Metab Clin 30:1-16.
  8. Wei et al., (2006) J Clin Endocrinol Metab 91:3647-3653.
NR0B1 (DAX1) Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NR0B1
  • To determine the etiology of primary adrenal insufficiency in a male, particularly in the presence of HH, an X-linked family history, and/or symptoms suggestive of a contiguous gene deletion syndrome
  • To determine etiology of 46,XY gonadal dysgenesis and ambiguous genitalia
  • Carrier testing for females with a family history of X-linked AHC
  • Prenatal diagnosis for at-risk pregnancies
  • Capillary Sequencing

Ordering

416
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Morel et al., (January 2010) Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies Presented at Hormonal and Genetic Basis of Sexual Differentiation Disorder and Hot Topics in Endocrinology, Miami, FL
  2. Bardoni et al., (1994) Nat Genet 7:497-501
  3. Salvi et al., (2002) J Clin Endocrinol Metab 87:4094-4100
  4. Lin et al., (2006) J Clin Endocrinol Metab 91:3048-3054
  5. Muscatelli et al., (1994) Nature 372:672-676
  6. McCabe ERB (2007) Mol Cell Endocrinol 265- 266:179-182
  7. Ho et al., (2004) Mol Genet Metab 83:330-336
  8. Zhang et al., (1998) Am J Hum Genet 62:855-864
  9. Barbaro et al., (2008) Clin Genet 73:453-464
  10. Shaikh et al., (2008) J Med Genet 45:e1
  11. Seminara et al., (1999) J Clin Endocrinol Metab 84:4501- 4509
  12. Merke et al., (1999) NEJM 340:1248-1252
  13. Mantovani et al., (2002) J Clin Endocrinol Metab 87:44-48
  14. Achermann et al., (2001) Molec Cell Endocrinol 185:17-25
DHH Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DHH
  • To differentiate DHH-associated DSD from other disorders causing XY gonadal dysgenesis
  • Genetic counseling
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutation
  • Capillary Sequencing Reflex to Exon Array

Ordering

422
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto et al., (2004) J Clin Endocrinol Metab 89:4480-4483
  2. Canto et al., (2005) Molec Hum Reprod 11:833-836
  3. Baets et al., (2009) Neurom Disor 19;172-175
  4. McElreavey, K. (January 2010) Genetic Disorders of Sex Differentiation Presented at Hormonal and Genetic Basis of Sexual Differentiation Disorder and Hot Topics in Endocrinology, Miami, FL
  5. Umehara et al., (2000) Am J Hum Genet 67:1302-1305
SRD5A2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SRD5A2
  • Confirmation of the clinical diagnosis
  • To differentiate 5-? reductase deficiency from other 46,XY disorders of sex development
  • Prenatal diagnosis for known familial mutations
  • Carrier testing for at-risk relatives
  • Capillary Sequencing

Ordering

469
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Makridakis et al., (1997) Cancer Res 57:1020-1022
  2. Andersson et al., (1991) Nature 354:159-161
  3. Mazen et al., (2003) Clin Endocrinol 58:627-631
  4. Wang et al., (2004) Eur J Hum Genet 12:706-712
  5. Sasaki et al., (2003) J Clin Endocrinol Metab 88:3431-3436
  6. Hackel et al., (2005) J Mol Med 83:569-576
  7. Vilchis et al., (2010) J Androl 31:358-364
  8. Thigpen et al., (1992) J Clin Invest 90:799-809
  9. Maimoun et al., (2011) J Clin Endocrinol Metab 96:296-307
SLC26A4 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

SLC26A4
  • Confirmation of a clinical diagnosis
  • Differential diagnosis from other types of hearing loss
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

572
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 241.1 Nontoxic multinodular goiter Multinodular goiter (nontoxic)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

References

  1. Smith, R. and Van Camp, G. (Updated April 2, 2009). Pendred syndrome/DFNB4. In: GeneReviews at GeneTests: http://www.genetests.org.
  2. Napiontek, U. et al. (2004) J Clin Endocrinol Metab 89(11):5347-5351.
  3. Anwar, S. et al. (2009) J Hum Genet 54(5):266-270.
  4. Yang, T. et al. (2007) Am J Hum Genet 80:1055-1063.
  5. Pera, A. et al. (2008) Eur J Hum Genet 16:888-896.
  6. Campbell, C. et al. (2001) Hum Mutat 17:403-411.
  7. Tsukamoto, K. et al. (2003) Eur J Hum Genet 11:916-922.
MODY Sequencing Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GCK, HNF1A, HNF1B, HNF4A, PDX1
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with MODY
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

674
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1, 81406x1
Yes
Yes
  • 648.0 Diabetes mellitus [0-4] Conditions classifiable to 249, 250 Excludes: gestational diabetes (648.8)
  • 775.1 Neonatal diabetes mellitus Diabetes mellitus syndrome in newborn infant
* For price inquiries please email zebras@genedx.com

References

  1. Gardner and Tai (2012) Diabetes Metab Syndr Obes 5:101-8.
  2. Steck and Winter (2011) Curr Opin Endocrinol Diabetes Obes 18:252-8.
  3. De León & Stanley (2008) [Updated 2011 Jul 5]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1447/
  4. Bennett (2004) Pharmacogenomics 5(4):433-8.
  5. Raile et a., (2009) Clin Endocrinol Metab 94(7):2658–64.
  6. Mefford et al., (2007) Am J Hum Genet 81(5):1057-69.
Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CHD7, FGF8, FGFR1, GNRH1, GNRHR, KAL1, KISS1, KISS1R, NR0B1, NSMF (NELF), PROK2, PROKR2, TAC3, TACR3
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with HH
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

676
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81406x1, 81407x1, 81479x3
Yes
Yes
  • 255.2 Adrenogenital disorders, Adrenogenital syndromes,
  • 781.1 Disturbances of sensation of smell and taste Anosmia Parageusia Parosmia
  • 253.4 Other anterior pituitary disorders, Isolated or partial deficiency of an anterior pituitary hormone, other than growth hormone Prolactin deficiency
  • 257.2 Other testicular hypofunction, Defective biosynthesis of testicular androgen, Eunuchoidism: NOS hypogonadotropic Failure: Leydig's cell, adult seminiferous tubule, adult Testicular hypogonadism
* For price inquiries please email zebras@genedx.com

References

  1. Pallais et al., (2007) [Updated 2010 Oct 14]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1278/
  2. Silveira et al., (2010) Mol Cell Endocrinol 324(1-2):30-8.
  3. Brioude et al., (2010) Eur J Endocrinol 162:835-851.
  4. Raivio et al., (2007) N Engl J Med 357(9):863-73.
  5. Bennett (2004) Pharmacogenomics 5(4):433-8.
  6. Laitinen et al., (2011) Orphanet J Rare Dis 6:41.
  7. Sato et al., (2004) J Clin Endocrinol Metab 89(3):1079-1088.
  8. Trarbach et al., (2006) J Clin Endocrinol Metab 91(10):4006- 12.
  9. Kim et al., (2008) Am J Hum Genet 83(4):511-9.
  10. Cariboni et al., (2004) Hum Mol Genet 13(22):2781-91.
  11. Bianco & Kaiser (2009) Nat Rev Endocrinol 5(10):569-76.
  12. Shaw et al., (2011) J Clin Endocrinol Metab 96(3):E566-76.
  13. Trarbach et al., (2010) Clin Endocrinol 72(3):371-6.
  14. Falardeau et al., J Clin Invest. 2008 Aug;118(8):2822-31.
  15. Miura et al., (2004) J Hum Genet 49(5):265-8.
  16. Xu et al., (2011) Fertil Steril 95(5):1613-20.
  17. OMIM, Online Mendelian Inheritance in Man, (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), http://www.ncbi.nlm.
  18. Chan et al., (2011) J Clin Endocrinol Metab 96(11):E1771-81.
  19. Topaloglu et al., (2012) N Engl J Med 366(7):629-35.
  20. Niakan & McCabe (2005) Molec Genet Metab 86:70-83.
  21. Achermann et al., (2001) Mol Cell Endocrinol 185(1-2):17-25.
  22. Young et al., (2010) J Clin Endocrinol Metab 95(5):2287-95.
  23. Topaloglu et al., (2009) Nat Genet 41(3):354-8.
Premature Ovarian Failure Sequencing Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

BMP15, CYP17A1, CYP19A1, FIGLA, FSHR, GDF9, LHCGR, NOBOX, NR5A1, POR, PSMC3IP
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with POF
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

677
8-10 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81479x9
Yes
Yes
  • 256.39 Other ovarian failure Delayed menarche Ovarian hypofunction Primary ovarian failure NOS
* For price inquiries please email zebras@genedx.com

References

  1. Persani et al., (2010) J Mol Endocrinol 45:257-279.
  2. Shelling (2010) Reproduction 140(5):633-41.
  3. Woad et al., (2006) Aust N Z J Obstet Gynaecol 46(3):242-4.
  4. Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816.
  5. Willemsen et al., (2011) Clin Genet 80(3):214-25.
  6. ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010
  7. Conte et al., (1994) J Clin Endocrinol Metab 78(6):1287-1292.
  8. Jones et al., (2006) Trends Endocrinol Metab 17(2):53-62.
  9. Lourenco et al., (2009) N Engl J Med 360:1-11.
  10. Bennett (2004) Pharmacogenomics 5(4):433-8.
  11. Bachner et al., (1993) Nature Genet 4:115-116.
  12. McConkie-Rosell et al., (2005) J Genet Couns14:249-270.
  13. Achermann et al., (2001) Mol Cell Endocrinol 185(1-2):17-25.
  14. Warman et al., (2011) Horm Res Paediatr 75:70–77.
  15. Huntriss et al., (2006) Molec Hum Reprod 12:283-289.
  16. Bouilly et al., (2011) Hum Mutat 32(10):1108-13.
  17. Qin et al., (2007) Am J Hum Genet 81(3):576-81.
  18. Di Pasquale et al., (2006) J Clin Encroniol Metab 91(5):1976-9.
  19. Tiotiu et al., (2010) Hum Reprod 25(6):1581-7.
  20. Laissue et al., (2006) Eur J Endocrinol 154(5):739-44.
  21. Di Pasquale et al., (2006) J Clin Encroniol Metab 91(5):1976-9.
  22. Kovanci et al., (2007) Fertil Steril 87(1):143-6.
  23. Zhao et al., (2008) Am J Hum Genet 82(6):1342-8.
  24. Kuechler et al., (2010) Eur J Hum Genet 18(6): 656–661.
  25. Aittomaki et al., (1995) Cell 82(6):959-68.
  26. Tsigos et al., (1997) Ann NY Acad Sci 816:263-73.
  27. Toledo et al., (1996) J Clin Endocrinol Metab 81(11):3850-4.
  28. Arnhold et al., (2009) Horm Res 71:75–82.
  29. Yariz et al., (2011) Fertil Steril 96(2):e125-30.
  30. van den Akker et al., (2002) J Clin Endocr Metab 87:5714-5721.
  31. Idkowiak et al., (2010) J Clin Endocrinol Metab 95:3418-3427.
  32. Fluck et al., (2004) Nat Genet 36(3):228-30.
  33. Sahakitrungruang et al., (2009) J Clin Endocrinol Metab 94:4992- 5000.
  34. Meinhardt et al., (2002) Horm Res 57:145-152.
  35. Belgorosky et al., (2003) J Clin Endocrinol Metab 88(11):5127-31.
  36. Ito et al., (1993) Proc Natl Acad Sci 90(24):11673-7.
  37. Jones et al., (2007) Nat Clin Pract Endocrinol Metab 3(5):414-21.
  38. Zangen et al., (2011) Am J Hum Genet 7;89(4):572-9.
  39. Petukhova et al., (2003) Dev Cell 5:927-936.

Hematologic Disorders

Congenital Sideroblastic Anemia Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2
  • Mitochondrial genome large deletion testing
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Targeted testing for a known familial variant
  • Prenatal diagnosis for known familial variants in nuclear genes in at-risk pregnancies
  • Genetic counseling
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

938
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81465x1, 81479x8
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. OMIM, Online Mendelian Inheritance in Man, (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), http://www.ncbi.nlm.n
  2. Bergmann AK et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatric Blood & Cancer. 2010 Feb 54(2):273-8. (PMID:19731322)
  3. Ohba R et al. Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). Annals Of Hematology. 2013 Jan 92(1):1-9. (PMID:22983749)
  4. Bekri S, D’Hooghe M, Vermeersch P. X-Linked Sideroblastic Anemia and Ataxia. 2006 Mar 1 [Updated 2014 Apr 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Availab
  5. Aivado M et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells, Molecules & Diseases. 37(1):40-5. (PMID: 16735131)
  6. Guernsey DL et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nature Genetics. 2009 Jun 41(6):651-3. (PMID: 19412178)
  7. Rouault TA and Tong WH. Iron-sulfur cluster biogenesis and human disease. Trends In Genetics : Tig. 2008 Aug 24(8):398-407. (PMID:18606475)
  8. Ye H et al. Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. The Journal Of Clinical Investigation. 2010 May 120(5):1749-61. (PMID:20364084)
  9. Bykhovskaya Y et al. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). American Journal Of Human Genetics. 2004 Jun 74(6):1303-8. (PMID: 15108122)
  10. Bergmann AK et al. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. The Journal Of Pediatrics. 2009 Dec 155(6):888-892. (PMID: 19643445)
  11. Chakraborty PK et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30 124(18):2867-71. (PMID: 25193871)
  12. Wiseman DH et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 4 122(1):112-23. (PMID: 23553769)
  13. Riley LG et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. American Journal Of Human Genetics. 2010 87(1):52-9. (PMID: 20598274)
  14. Riley LG et al. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal Of Rare Diseases. 2013 8:193. (PMID: 24344687)
  15. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  16. Bekri S et al. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood. 2000 96(9):3256-64. (PMID: 11050011)
  17. D\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Hooghe M et al. X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. European Journal Of Paediatric Neurology : Ejpn : Official Journal Of The European Paediatric Neur
  18. Maguire A et al. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. British Journal Of Haematology. 2001 Dec 115(4):910-7. (PMID: 11843825)
  19. Bishop DF et al. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the ?-subunit of succinyl-CoA synthetase (SUCLA2). The Journal Of Biological Chemistry. 2012 287(34):28943-55. (PMID:22740690)
  20. Campagna DR et al. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. American Journal Of Hematology. 2014 Mar 89(3):315-9. (PMID:24166784)
  21. Kaneko K et al. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. Haematologica. 2014 Feb 99(2):252-61. (PMID:23935018)
  22. . Stenson et al. (2014) The Human Gene Mutation Database (HGMD®) Human genetics 133(1):1-9 (PMID: 24077912)
  23. Kannengiesser C et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011 Jun 96(6):808-13. (PMID:21393332)
  24. . Fernandez-Vizarra E et al. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). Journal Of Medical Genetics. 2007 Mar 44(3):173-80. (PMID: 17056637)
  25. Oishi K, Diaz GA. Thiamine-Responsive Megaloblastic Anemia Syndrome. 2003 Oct 24 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available fro
  26. Labay V et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nature Genetics. 1999 Jul 22(3):300-4. (PMID: 10391221)
  27. Scharfe C et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics. 2000 Sep 37(9):669-73. (PMID: 10978358)
  28. Shahni R et al. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. American Journal Of Medical Genetics. Part A. 2013 161(9):2334-8. (PMID:23918765)
Diamond-Blackfan Anemia Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Identification of very mild or clinically silent cases
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J450
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x12
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Draptchinskaia N, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Gen 21:169.
  2. Quarello P et al, 2008, Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RSP19 deficiency, Haematologica 93:1748 (letter).
  3. Gazda HT et al. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. British Journal Of Haematology. 2004 Oct 127(1):105-13.15384984.
  4. Gazda H 2008, Ribosomal Protein L5 and L11 Mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients, Am J Hum Gen 83:1-12.
  5. Cmejla R, 2009, Identification of mutations in the Ribosomal Protein L5 and Ribosomal Protein L11 Genes in Czech patients with Diamond-Blackfan anemia, Hum Mut 30321-327.
  6. Quarello P et al. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica. 2010 95(2):206-13.19773262.
  7. Farrar JE et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008 Sep 1 112(5):1582-92.18535205.
  8. Doherty L et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. American Journal Of Human Genetics. 2010 86(2):222-8.20116044.
  9. Gazda HT et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. American Journal Of Human Genetics. 2006 79(6):1110-8.17186470.
  10. Boria et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Human Mutation. 2010 31(12):1269-79.20960466.
  11. Chae H et al. Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. Experimental & Molecular Medicine. 2014 46:e88.24675553.
  12. Smetanina NS et al. Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. Pediatric Blood & Cancer. 2015 Sep 62(9):1597-600.25946618.
  13. Landowski M et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Human Genetics. 2013 Nov 132(11):1265-74.23812780.
  14. Farrar JE et al. Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. American Journal Of Hematology. 2014 Oct 89(10):985-91.25042156.
  15. Mirabello L et al. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014 Jul 3 124(1):24-32.24829207.
  16. Gazda HT et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Human Mutation. 2012 33(7):1037-44.22431104.
  17. Sankaran VG et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal Of Clinical Investigation. 2012 Jul 122(7):2439-43.22706301.
  18. Ludwig et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nature Medicine. 2014 Jul 20(7):748-53.24952648
DKC1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DKC1
  • 1. Confirmation of a clinical diagnosis.
  • 2. Carrier testing for family members of the affected patient
  • 3. Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • 4. Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

108
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
* For price inquiries please email zebras@genedx.com

References

  1. Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006
  2. Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432
  3. He J, et al, Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenital causes embryonic lethality in mice. 2002, Oncogene 21:7740
ELANE (ELA2) Gene Sequencing

Forms and Documents

Test Requisition

Test Details

ELANE (ELA2)
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

105
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bellanne-Chantelot, C, Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Registry, Blood 103: 4119-4125, 2004.
  2. Horwitz, M., Mutations in ELA2, encoding neutrophil elastase, define a 210day biological clock in cyclic haematopoiesis, Nat. Gen. 23:433-436, 1999.
  3. Dale et al, Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia, Blood 96: 2317-2322, 2000
F12 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

F12
  • Confirmation of a clinical diagnosis
  • Selection of appropriate prophylaxis and treatment
  • Identification of at-risk family members
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

388
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81403x1
No
Yes
  • 995.1 Angioneurotic edema, Giant urticaria
* For price inquiries please email zebras@genedx.com

References

  1. Bork K. et al., Hereditary angioedema caused by missense mutations in the factor XII g ene: Clinical features, trigger factors, and therapy. J Allergy Clin Immunol. 2009 Jul;124(1):129-34.
  2. Cichon S. et al., Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006 Dec;79(6):1098-104.
  3. Dewald G. and Bork K., Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9.
  4. Martin L. et al., Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J Allergy Clin Immunol. 2007 Oct;120(4):975-7.
HAX1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HAX1
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

303
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
* For price inquiries please email zebras@genedx.com

References

  1. Smith BN, et al, Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol 144:762, 2009
  2. Carlsson G, et al, Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1mutations, J Int Med 264:388, 2008
  3. Germeshausen M, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype correlations, Blood 111:4954, 2008
  4. Matsubara K, et. al, Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency, Haematologica 92(12):e123-5, 2007
  5. Klein C., et al, HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease), Nature Genetics 39:86-90, 2007
  6. Kostmann, R. Infantile genetic agranulocytosis (Agranulocytosis infantilis hereditaria): a new recessive lethal disease in man, Acta Paediatr. 45 (suppl) 1-78. 1956
HPS1 & HPS3 Mutation Analysis (Puerto Rican)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HPS1, HPS3
  • Confirmation of a clinical diagnosis in a patient of appropriate ethnic background
  • Carrier testing in unaffected family members or unaffected members of the general population of the appropriate ethnic background.
  • Prenatal diagnosis
  • PCR & Electrophoresis

Ordering

188
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
  • 287.1 Qualitative platelet defects, Thrombasthenia (hemorrhagic) (hereditary), Thrombocytasthenia, Thrombocytopathy (dystrophic), Thrombopathy (Bernard-Soulier)
* For price inquiries please email zebras@genedx.com

References

  1. Huizing, M., Hermansky-Pudlak syndrome Type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency, Am J Hum Gen 69:1022-32, 2001
  2. Anikster, Y, et al. Mutation in a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat. Gen. 28:376-380, 2001
  3. Oh, J., et al., Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat. Gen., 14;300-306, 1996
HPS3 Mutation Analysis (Ashkenazi Jewish)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HPS3
  • 1. Confirmation of a clinical diagnosis in a patient of appropriate ethnic background
  • 2. Carrier testing in unaffected family members or unaffected members of the general population of the appropriate ethnic background.
  • 3. Prenatal diagnosis
  • Capillary Sequencing

Ordering

189
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
  • 287.1 Qualitative platelet defects, Thrombasthenia (hemorrhagic) (hereditary), Thrombocytasthenia, Thrombocytopathy (dystrophic), Thrombopathy (Bernard-Soulier)
* For price inquiries please email zebras@genedx.com

References

  1. Anikster, Y, et al. Mutation in a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat. Gen. 28:376-380, 2001
  2. Oh, J., et al., Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat. Gen., 14;300-306, 1996
  3. Huizing, M., Hermansky-Pudlak syndrome Type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency, Am J Hum Gen 69:1022-32, 2001
MPL Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MPL
  • Confirmation of a clinical diagnosis.
  • Carrier testing for family members of the affected.
  • Identification of clinically silent cases.
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Capillary Sequencing

Ordering

104
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81402x1, 81403x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ballmaier M. et al, 2001, C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia, Blood 97: 139-146
  2. Van den Oudenrijn S. et al, 2000, Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia, , Brit. J. Haemat. 110: 441-448
  3. Ihara, K et al., 1999, Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia, Proc. Nat. Acad. Sci. 96: 3132-3136
  4. Tonelli et al., Compound heterozygosity for two different amino acid substitutions in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia, 2000, Hum Genet 107:225-233
RPL11 Gene Sequencing

Forms and Documents

Test Requisition

Test Details

RPL11
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Identification of very mild or clinically silent cases
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Capillary Sequencing

Ordering

362
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
  • 284.01 Constitutional red blood cell aplasia, Blackfan-Diamond syndrome, Familial hypoplastic anemia
* For price inquiries please email zebras@genedx.com

References

  1. Gazda H 2008, Ribosomal Protein L5 and L11 Mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients, Am J Hum Gen 83:1-12
  2. Quarello P et al, 2008, Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RSP19 deficiency, Haematologica 93:1748 (letter)
  3. Draptchinskaia N, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Gen 21:169
  4. Cmejla R, 2009, Indentification of mutations in the Ribosomal Protein L5 and Ribosomal Protein L11 Genes in Czech patients with Diamond-Blackfan anemia, Hum Mut 30321-327
RPL5 Gene Sequencing

Forms and Documents

Test Requisition

Test Details

RPL5
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Identification of very mild or clinically silent cases
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Capillary Sequencing

Ordering

361
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
  • 284.01 Constitutional red blood cell aplasia, Blackfan-Diamond syndrome, Familial hypoplastic anemia
* For price inquiries please email zebras@genedx.com

References

  1. Cmejla R, 2009, Indentification of mutations in the Ribosomal Protein L5 and Ribosomal Protein L11 Genes in Czech patients with Diamond-Blackfan anemia, Hum Mut 30321-327
  2. Gazda H 2008, Ribosomal Protein L5 and L11 Mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients, Am J Hum Gen 83:1-12
  3. Quarello P et al, 2008, Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RSP19 deficiency, Haematologica 93:1748 (letter)
  4. Draptchinskaia N, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Gen 21:169
RPS19 Gene Sequencing

Forms and Documents

Test Requisition

Test Details

RPS19
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Identification of very mild or clinically silent cases
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

1061
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
Yes
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
  • 284.01 Constitutional red blood cell aplasia, Blackfan-Diamond syndrome, Familial hypoplastic anemia
* For price inquiries please email zebras@genedx.com

References

  1. Cmejla R, 2009, Indentification of mutations in the Ribosomal Protein L5 and Ribosomal Protein L11 Genes in Czech patients with Diamond-Blackfan anemia, Hum Mut 30321-327
  2. Gazda H 2008, Ribosomal Protein L5 and L11 Mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients, Am J Hum Gen 83:1-12
  3. Quarello P et al, 2008, Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RSP19 deficiency, Haematologica 93:1748 (letter)
  4. Draptchinskaia N, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Gen 21:169
SBDS Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SBDS
  • Confirmation of a clinical diagnosis
  • Carrier testing in relatives
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

109
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
  • 208 Leukemia of unspecified cell type The following fifth-digit subclassification is for use with category 208: 0 without mention of having achieved remission failed remission 1 in remission 2 in relapse
  • 284.8 Other specified aplastic anemias
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 577.9 Unspecified disease of pancreas
* For price inquiries please email zebras@genedx.com

References

  1. Boocock, G., et al, Mutations in SBDS are associated with Shwachman-Diamond syndrome, 2003, Nature Genetics 33:97-101
  2. Kuijpers, T, et al., Hematologic abnormalities in Shwachman-Diamond syndrome: lack of genotype-phenotype relationship, 2005, Blood 106:356-361
  3. Costa E., et al, Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome, 2003, Blood Cells Mol Dis 29:96
SERPING1 (C1INH) Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SERPING1 (C1INH)
  • Confirmation of a clinical diagnosis
  • Selection of appropriate prophylaxis and treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2341
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 277.6 Other deficiencies of circulating enzymes, Hereditary angioedema
* For price inquiries please email zebras@genedx.com

References

  1. Kalmár, L. et al., HAEdb: A Novel Interactive, Locus-Specific Mutation Database for the C1 Inhibitor Gene. Hum Mutat. 25: 1-5, 2005.
  2. Kalmár, L. et al., Mutation Screening for the C1 Inhibitor Gene Among Hungarian Patients With Hereditary Angioedema. Hum Mutat. 22:498, 2003.
  3. Bowen, B. et al., A Review of the Reported Defects in the Human C1 Esterase Inhibitor Gene Producing Hereditary Angioedema Including Four New Mutations. Clin Immunol. 98: 157-163, 2001.
  4. Stoppa-Lyonnet et al. Recombinational Biases in the Rearranged C1-Inhibitor Genes of Hereditary Angioedema Patients, Am J Hum Genet 49:1055, 1991.
TERC Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TERC
  • Confirmation of a clinical diagnosis.
  • Carrier testing for family members of the affected patient
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

107
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
* For price inquiries please email zebras@genedx.com

References

  1. Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006
  2. Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432
  3. He J, et al, Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenital causes embryonic lethality in mice. 2002, Oncogene 21:7740
  4. Goldman F et al, The effect of TERC haploinsufficiency on the inheritance of telomere length, 2005, PNAS 102:17119
TERT Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

TERT
  • Confirmation of a clinical diagnosis.
  • Carrier testing for family members of the affected patient
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

682
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
* For price inquiries please email zebras@genedx.com

References

  1. Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006.
  2. Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432.
  3. He J, et al, Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenital causes embryonic lethality in mice. 2002, Oncogene 21:7740.
  4. Goldman F et al, The effect of TERC haploinsufficiency on the inheritance of telomere length, 2005, PNAS 102:17119.
  5. Walne AJ et al, TINF2 Mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 2008, Blood 112:3594-3600.
  6. Savage SA et al, TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. 2008, The American Journal of Human Genetics 82:501-509.
  7. Vulliamy et al., Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations. 2011. PLoS One. 6(9) e24383.
  8. Walne et al., Advances in the understanding of dyskeratosis congenita. 2009. British Journal of Haematology. 145:164-172.
  9. Savage et al., (2010) The genetics and clinical manifestations of telomere biology disorders. Genet Med. 12(12):753-64.
  10. Armanios et al., (2007) Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis. N Engl j Med. 356:1317-1326.
TINF2 Exon 6 Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TINF2
  • Confirmation of a clinical diagnosis.
  • Carrier testing for family members of the affected patient
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

414
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 284 Aplastic anemia and other bone marrow failure syndromes
* For price inquiries please email zebras@genedx.com

References

  1. Walne AJ et al, TINF2 Mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 2008, Blood 112:3594-3600
  2. Savage SA et al, TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. 2008, The American Journal of Human Genetics 82:501-509

Rheumatologic Disorders

MEFV Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MEFV
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

214
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81402x1
Yes
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 277.31 Familial Mediterranean fever, Benign paroxysmal peritonitis, Hereditary amyloid nephropathy, Periodic familial polyserositis, Recurrent polyserositis
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
  2. Touitou (2001) Eur J Hum Genet 9:473-483
  3. Booty et al., (2009) Arth Rheum 60:1851-1861
MVK Select Exons

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MVK
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

216
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
  • 277.31 Familial Mediterranean fever, Benign paroxysmal peritonitis, Hereditary amyloid nephropathy, Periodic familial polyserositis, Recurrent polyserositis
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  2. Mandey et al., (2006) Hum Mutat 27:796-802
  3. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
MVK Remaining Exons

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MVK
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2161
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
  • 277.31 Familial Mediterranean fever, Benign paroxysmal peritonitis, Hereditary amyloid nephropathy, Periodic familial polyserositis, Recurrent polyserositis
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  2. Mandey et al., (2006) Hum Mutat 27:796-802
  3. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
NLRP3 Exon 3 Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NLRP3 (CIAS1)
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

217
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
Periodic Fever Syndromes Panel (7 genes)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Next-Gen Sequencing

Ordering

367
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81479x6
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
  2. Dode et al., (2002) Arth Rheum 46:2181-2188
  3. Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
  4. Booty et al., (2009) Arth Rheum 60:1851-1861
  5. Touitou (2001) Eur J Hum Genet 9:473-483
  6. Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
  7. Aganna et al., (2003) Arth Rheum 48:2632-2644
  8. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  9. Mandey et al., (2006) Hum Mutat 27:796-802
  10. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
  11. El-Shanti et al., (2007) Clin Ortho Rel Res 462:11-19
  12. Shoham et al,, (2003) PNAS 100:13501-13506
  13. Wise et al,, (2002) Hum Mol Genet 11:961-969
  14. Horwitz, M. (1999) Nat Gen 23:433-436
  15. Bellanne-Chantelot (2004) Blood 103: 4119-4125
  16. Dale et al., (2000) Blood 96:2317-2322
Rest of the Periodic fever panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Next-Gen Sequencing

Ordering

400
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
  • 277.31 Familial Mediterranean fever, Benign paroxysmal peritonitis, Hereditary amyloid nephropathy, Periodic familial polyserositis, Recurrent polyserositis
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
  2. Touitou (2001) Eur J Hum Genet 9:473-483
  3. Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
  4. Bennett S. Pharmacogenomics. 2004;5(4):433-8,
  5. Booty et al., (2009) Arth Rheum 60:1851-1861
  6. Dode et al., (2002) Arth Rheum 46:2181-2188
  7. Aganna et al., (2003) Arth Rheum 48:2632-2644
  8. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  9. Mandey et al., (2006) Hum Mutat 27:796-802
  10. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
  11. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
  12. Dale et al., (2000) Blood 96:2317-2322
  13. Bellanne-Chantelot (2004) Blood 103: 4119-4125
  14. Horwitz, M. (1999) Nat Gen 23:433-436
  15. Wise et al,, (2002) Hum Mol Genet 11:961-969
  16. Shoham et al,, (2003) PNAS 100:13501-13506
  17. El-Shanti et al., (2007) Clin Ortho Rel Res 462:11-19
PSTPIP1 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PSTPIP1
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2101
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Wise et al,, (2002) Hum Mol Genet 11:961-969
  2. Shoham et al,, (2003) PNAS 100:13501-13506
PSTPIP1 Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PSTPIP1
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2102
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Wise et al,, (2002) Hum Mol Genet 11:961-969
  2. Shoham et al,, (2003) PNAS 100:13501-13506
TNFRSF1A Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TNFRSF1A
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

215
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
  2. Dode et al., (2002) Arth Rheum 46:2181-2188
  3. Aganna et al., (2003) Arth Rheum 48:2632-2644

Disorders of Sex Differentiation

SRY Present/Absent Testing

Forms and Documents

Test Info Sheet

Test Details

SRY
  • Ambiguous Gender

Ordering

J720
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493.
  2. Hawkins, J. (1992) Am J Hum Genet 51: 979-984.
  3. Scherer et al., (1998) Cytogenet Cell Genet 80:188-192.
  4. Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25.
  5. Paris et al., (2007) Fertil Steril 88:1437e21-25.
  6. Cameron, et al., (1997) Hum Mutat 9: 388-395.
  7. Delot and Vilain. Nonsyndromic 46,XX Testicular Disorders of Sex Development. 2003 Oct 30 [Updated 2015 May 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

ENT Disorders

Hearing Loss Test

Forms and Documents

Hearing Loss Fact Sheet Test Requisition Test Info Sheet

Test Details

ABHD12, ACTG1, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A2, COL4A3, COL4A4, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FAM189A2, FAM65B, GATA3, GIPC3, GJA1, GJB1, GJB2 (Cx26), GJB3 (Cx31), GJB6 (Cx30), GPR98, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PMP22, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMPRSS5, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN/DFNB31
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Long Range PCR
  • MLPA
  • Multiplex junction-specific PCR
  • Sanger/ABI sequencing

Ordering

J806
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81430x1, 81431x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Morton et al. (2006) N. Engl. J. Med. 354 (20):2151-64 (PMID: 16707752)
  2. Wroblewska-Seniuk et al. (2017) Pediatr. Res. : (PMID: 27861465)
  3. Hilgert et al. (2009) Mutat. Res. 681 (2-3):189-96 (PMID: 18804553)
  4. Sloan-Heggen et al. (2016) Hum. Genet. 135 (4):441-50 (PMID: 26969326)
  5. Shearer et al. (2010) Proceedings Of The National Academy Of Sciences Of The United States Of America 107 (49):21104-9 (PMID: 21078986)
  6. Sommen et al. (2016) Hum. Mutat. 37 (8):812-9 (PMID: 27068579)
  7. Venkatesh et al. (2015) Med J Armed Forces India 71 (4):363-8 (PMID: 26663965)
  8. Kochhar et al. (2007) Genet. Med. 9 (7):393-408 (PMID: 17666886)
  9. Martínez et al. (2009) Antioxid. Redox Signal. 11 (2):309-22 (PMID: 18837651)

Skeletal Disorders

Achondrogenesis Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

COL2A1, SLC26A2, TRIP11
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J799
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Noel, AE & Brown RN (2014). International Journal of Women\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\
  2. Witters, I, Moerman, P & Fryns, JP (2008). Genetic Counseling (Geneva, Switzerland), 19(3), 267-275. PMID: 18990981
ARSE Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition Clinical Data Sheet

Test Details

ARSE
  • Confirmation of a clinical diagnosis
  • Carrier testing in female relatives
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

282
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 756.59 Chondrodysplasia punctata epiphysealis
* For price inquiries please email zebras@genedx.com

References

  1. Brunetti-Pierri, N. et al. (2003) X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability Am J Med Genet 117A:164-168
  2. Sheffield, L.J. et al. (1998) Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chodrodysplasia punctata J Med Genet 35:1004-1008
  3. Franco B. et al. (1995) A Cluster of Sulfatase Genes on Xp22.3: Mutations in Chondrodysplasia Punctata(CDPX) and Implications for Warafin Embryopathy Cell 81:15-25.
ARSE Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition Clinical Data Sheet

Test Details

ARSE
  • Confirmation of a clinical diagnosis
  • Carrier testing in female relatives
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

282E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 756.59 Chondrodysplasia punctata epiphysealis
* For price inquiries please email zebras@genedx.com

References

  1. Brunetti-Pierri, N. et al. (2003) X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability Am J Med Genet 117A:164-168
  2. Sheffield, L.J. et al. (1998) Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chodrodysplasia punctata J Med Genet 35:1004-1008
  3. Franco B. et al. (1995) A Cluster of Sulfatase Genes on Xp22.3: Mutations in Chondrodysplasia Punctata(CDPX) and Implications for Warafin Embryopathy Cell 81:15-25.
Chondrodysplasia Punctata Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AGPS, ARSE, EBP, GNPAT, PEX7
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J804
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x5
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Braverman, N, Moser, A and Steinberg, S. (Updated September 13, 2012). Rhizomelic Chondrodysplasia Punctata Type 1. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-20
  2. Braverman NE, Bober M, Brunetti-Pierri N, et al. Chondrodysplasia Punctata 1, X-Linked. 2008 Apr 22 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-
  3. Dempsey MA, Tan C, Herman GE. Chondrodysplasia Punctata 2, X-Linked. 2011 May 31. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm
Limb Abnormalities Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ESCO2, HDAC8, LMBR1, NIPBL, NSDHL, RAD21, SALL1, SALL4, SHH, SMC1A, SMC3, TBX5, TP63, WNT3
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia involving abnormal limbs
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J801
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1 81479x9
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bornholdt D, et al. (2005) J Med Genet. 42(2):e17. PMID: 15689440
  2. Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16 [Updated 2016 Jan 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http
  3. du Souich C, Raymond FL, Grzeschik KH, Boerkoel CF. NSDHL-Related Disorders. 2011 Feb 1 [Updated 2015 Nov 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Availa
  4. Gil-Rodriguez MC, et al. (2015) Hum Mutat 36(4): 454-62. PMID: 25655089
  5. Gordillo M, Vega H, Wang Jabs E. Roberts Syndrome. 2006 Apr 18 [Updated 2013 Nov 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncb
  6. Kohlhase J. SALL4-Related Disorders. 2004 Aug 16 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/
  7. Kohlhase J. Townes-Brocks Syndrome. 2007 Jan 24 [Updated 2016 Jan 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/b
  8. Konig A, et al. (2000) Am J Med Genet 90(4): 339-346. PMID: 10710235
  9. Lettice LA, et al. (2003) Hum Mol Genet 12(14):1725-35. PMID: 12837695
  10. Mannini L, et al. (2013) Hu Mutat. 34(12) PMID: 24038889
  11. McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. 2004 Jul 20 [Updated 2015 Oct 8]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.n
  12. Niemann S. Tetra-Amelia Syndrome. 2007 Aug 28 [Updated 2012 Aug 2]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/book
  13. Niemann S, et al. (2004) Am J Hum Genet 74(3):558-63. PMID: 14872406
  14. Sutton VR, van Bokhoven H. TP63-Related Disorders. 2010 Jun 8 [Updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.
COMP Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

COMP
  • Confirmation of a clinical diagnosis
  • Identification of patients at risk for early onset arthritic changes
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

249
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 756.56 Multiple epiphyseal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Hecht et al., Nat Genet 10:325-329 (1995)
  2. Briggs et al., Nat Genet 10:330-336 (1995)
  3. Delot et al., Hum Mol Genet 8(1):123-128 (1999)
  4. Hecht et al., Nat Genet 10:325-329 (1995)
  5. Briggs MD and Chapman KL, Hum Mut 19:465-478 (2002)
  6. Kennedy et al., Eur J Hum Genet 13:547-55 (2005)
  7. Zank et al., Eur J Hum Genet 15:150-4 (2007)
  8. Mabuchi et al., Hum Genet 112:84-90 (2003)
  9. Kennedy et al., Eur J Hum Genet 13:547-555 (2005)
CYP27B1 Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CYP27B1
  • Confirmation of the clinical diagnosis
  • Differentiation between the several types of hereditary Rickets.
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

185
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 275.3 Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
  • 783.4 Lack of expected normal physiological development in childhood
* For price inquiries please email zebras@genedx.com

References

  1. Kong, XF et al., Molecular cloning, characterization, and promoter analysis of the human 25-hydroxyvitamin D3-1?-hydroxylase gene Proc Natl Acad Sci 96:6988-6993 (1999)
  2. Smith, SJ et al., Novel Mutations in the 1?-Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D-Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood Derived Macrophages J Bone & Mineral Res 14(5):730-739 (1999)
  3. Wang X et al., Novel Gene Mutations in Patients with 1a-Hydroxylase Deficiency That Confer Partial Enzyme Activity in Vitro J Clin Endocrin & Metab 87(6):2424-2430 (2002)
  4. Kitanaka, S et al., Inactivating Mutations In The 25-Hydroxyviatmin D3 1?- Hydroxylase Gene in Patients With Pseudovitamin-D-Deficiency Rickets NEJM 338(10):653-661 (1998)
  5. Wang, JT et al., Genetics of Vitamin D 1?-Hydroxylase Deficiency in 17 Families Am J Hum Genet 63:1694-1702 (1998)
DMP1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DMP1
  • Confirmation of the clinical diagnosis
  • Differentiation from autosomal dominant and X-linked forms of the disease
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

314
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 275.3 Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
  • 268.2 Osteomalacia, unspecified
* For price inquiries please email zebras@genedx.com

References

  1. Feng, J.Q., et al., Loss of DMP1 Causes Rickets and Ostomalacia and Identified a Role for Osteocytes in Mineral Metabolism, Nat Genet 38(11): 1310-1315 (2006).
  2. Lorenz-Depiereux, B., et al., DMP1 Mutations in Autosomal Recessive Hypophosphatemia Implicate a Bone Matrix Protein in the Regulation of Phosphate Homeostasis, Nat Genet 38(11):1248-1250 (2006).
  3. Farrow et al. The role of DMP1 in autosomal recessive hypophosphatemic rickets. J Musculoskelet Neuronal Interact 7(4):30-312 (2007).
EXT1 & EXT2 Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

EXT1, EXT2
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1813
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
Yes
Yes
  • 726.91 Exostosis of unspecified site, Bone spur NOS
* For price inquiries please email zebras@genedx.com

References

  1. Vink JR et al., (2005) Eur J Hum Genet 13:470-474
  2. Wuyts et al. Ned Tijdschr Geneeskd 2002, 146:162-164
  3. Porter et al., (2004) J Bone Joint Surg Br 86:1041-6
  4. Pedrini et al., (2005) Hum Mut; Mut in Brief #830
  5. Wuyts et al., (2005) Clin Genet 68:542-547
  6. Jennes et al., (2008) J Mol Diagn, 10(1):85-92
  7. Heinritz et al., (2009) Ann Hum Genet 73:283-291
FGF23 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

FGF23
  • Confirmation of the clinical diagnosis
  • Differentiation between X-linked and dominant forms of the disease
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

184
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
Yes
Yes
  • 275.4 Disorders of calcium metabolism
  • 275.3.1 Multiple epiphyseal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Chefetz, I et al., A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification Hum Genet 118(2):261-266 (2005)
  2. Jan, SM et al., Perspective: Molecular Pathogenesis of Hypophosphatemic Rickets J Clin Endocrin & Metab 87(6):2467-2473 (2002)
  3. White, KE and Lorenz-Depiereux, B, et al. (The ADHR Consortium), Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF23 Nat Genet 26:345-348 (2000)
FGFR-Related Disorders Panel
HME Tier 1

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EXT1, EXT2
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1811
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x3
Yes
Yes
  • 726.91 Exostosis of unspecified site, Bone spur NOS
* For price inquiries please email zebras@genedx.com

References

  1. Wuyts et al. Ned Tijdschr Geneeskd 2002, 146:162-164
  2. Vink JR et al., (2005) Eur J Hum Genet 13:470-474
  3. Porter et al., (2004) J Bone Joint Surg Br 86:1041-6
  4. Pedrini et al., (2005) Hum Mut; Mut in Brief #830
  5. Wuyts et al., (2005) Clin Genet 68:542-547
  6. Jennes et al., (2008) J Mol Diagn, 10(1):85-92
  7. Heinritz et al., (2009) Ann Hum Genet 73:283-291
HME Tier 2

Forms and Documents

Test Info Sheet Test Requisition

Test Details

EXT2
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

1812
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 726.91 Exostosis of unspecified site, Bone spur NOS
* For price inquiries please email zebras@genedx.com

References

  1. Heinritz et al., (2009) Ann Hum Genet 73:283-291.
  2. Wuyts et al., (2005) Clin Genet 68:542-547.
  3. Jennes et al., (2008) J Mol Diagn, 10(1):85-92.
  4. Pedrini et al., (2005) Hum Mut; Mut in Brief #830.
  5. Porter et al., (2004) J Bone Joint Surg Br 86:1041-6.
  6. Wuyts et al. Ned Tijdschr Geneeskd 2002, 146:162-164.
  7. Vink JR et al., (2005) Eur J Hum Genet 13:470-474.
Osteogenesis Imperfecta Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, P3H1(LEPRE1), PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J797
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81408x2 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Barkova, E et. al. (2014). Clinical Genetics, PMID: 24863959
  2. Dighe, M, et. al. (2008). Radiographics 28(4), 1061-1077. PMID: 18635629
  3. Valadares, ER, et. al (2014). Jornal De Pediatria, 90(6), 536-541. PMID: 25046257
  4. Noel, AE & Brown RN (2014). International Journal of Women\'s Health, 6, 489-500. PMID: 24868173
  5. Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. 2005 Jan 28 [Updated 2013 Feb 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
PHEX Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PHEX
  • Confirmation of the clinical diagnosis
  • Differentiation between X-linked and dominant forms of the disease
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1861E
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x1
Yes
Yes
  • 275.3 Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
  • 783.4 Lack of expected normal physiological development in childhood
* For price inquiries please email zebras@genedx.com

References

  1. Francis, F et al., Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets Genome Research 7 573-585 (1997)
  2. Dixon, PH et al., Mutational Analysis of PHEX Gene in X-linked Hypophosphatemia J Clin Endocrin & Metab 83(10):3615-3623 (1998)
  3. Sabbagh, Y et al., PHEXdb, a Locus-Specific Database for Mutations Causing X-linked Hypophasphatemia Hum Mut 16:1-6 (2000)
  4. Jan, SM et al., Perspective: Molecular Pathogenesis of Hypophasphatemic Rickets J of Clin Endocrin & Metab 87(6):2467-2473 (2002)
PHEX Gene Sequencing (Males)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PHEX
  • Confirmation of the clinical diagnosis
  • Differentiation between X-linked and dominant forms of the disease
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

1861
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
Yes
Yes
  • 275.3 Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
  • 783.4 Lack of expected normal physiological development in childhood
* For price inquiries please email zebras@genedx.com

References

  1. Jan, SM et al., Perspective: Molecular Pathogenesis of Hypophasphatemic Rickets J of Clin Endocrin & Metab 87(6):2467-2473 (2002)
  2. Sabbagh, Y et al., PHEXdb, a Locus-Specific Database for Mutations Causing X-linked Hypophasphatemia Hum Mut 16:1-6 (2000)
  3. Dixon, PH et al., Mutational Analysis of PHEX Gene in X-linked Hypophosphatemia J Clin Endocrin & Metab 83(10):3615-3623 (1998)
  4. Francis, F et al., Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets Genome Research 7 573-585 (1997)
RMRP Gene Sequencing