Rare Disorders

Dermatologic Disorders

PORCN Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 1. Confirmation of a clinical diagnosis
  • 2. Differentiation between de novo and familial cases
  • 3. Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

306
4 weeks
2-5 mL Blood - Lavender Top Tube
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
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
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
KRT9 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

208
6 weeks
2-5 mL Blood - Lavender Top Tube
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
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
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
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
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
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
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
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
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
KRT2 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

122
6 weeks
2-5 mL Blood - Lavender Top Tube
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
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
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
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
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
Ichthyosis Follicularis with Atrichia and Photophobia / Keratosis Follicularis Spinulosa Decalvans (MBTPS2)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

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

Ordering

TB14
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
Haim-Munk Syndrome/ Papillon-Lefevre Syndrome (CTSC)

Forms and Documents

Test Requisition

Test Details

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TB15
3 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Hailey-Hailey Disease (ATP2C1)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

TA55
3 weeks
2-5 mL Blood - Lavender Top Tube
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.
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
Dried Blood Spots | Buccal Swabs

Billing

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
Epidermolysis Bullosa, Dystrophic (COL7A1)

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
  • Deletion/Duplication Analysis

Ordering

TA53
3 weeks
2-5 mL Blood - Lavender Top Tube
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.
EDA1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

1601E
4 weeks
2-5 mL Blood - Lavender Top Tube
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
DFNB1 Autosomal Recessive Hearing Loss (GJB2 and common GJB6 deletions)

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
  • Deletion/Duplication Analysis

Ordering

TA49
3 weeks
2-5 mL Blood - Lavender Top Tube
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
Darier Disease (ATP2A2)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA54
3 weeks
2-5 mL Blood - Lavender Top Tube
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
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
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
Chronic Granulomatous Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CYBA, CYBB, NCF1, NCF2, NCF4
  • Confirmation of clinical or laboratory diagnosis.
  • Carrier testing or rapid diagnosis in relatives.
  • Prenatal diagnosis.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T989
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

References

  1. Yu G et al. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. Clinical Immunology (Orlando, Fla.). 2008 128(2):117-26.18625437
  2. Roos D et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells, Molecules & Diseases. 2010 45(3):246-65.20729109
  3. Roos D et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells, Molecules & Diseases. 2010 44(4):291-9.20167518
  4. Matute JD et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009 Oct 8 114(15):3309-15.19692703
Autosomal Recessive/Dominant Hypohidrotic ED (EDAR)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

TA50
4 weeks
2-5 mL Blood - Lavender Top Tube
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
Autosomal Recessive/Dominant ED/Odonto-onycho-dermal Dysplasia, Schöpf-Schulz-Passarge Syndrome (WNT10A)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

TA80
4 weeks
2-5 mL Blood - Lavender Top Tube
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
An/Hypohidrotic ED, Autosomal Dominant (EDARADD)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

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

Ordering

TB11
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
ABCC6 Hot Spots (Tier I)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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
ABCC6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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

Disorders of Sex Differentiation

SRY Present/Absent Testing

Forms and Documents

Test Info Sheet

Test Details

  • Ambiguous Gender

Ordering

J720
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
Neonatal 46,XY Disorders of Sex Development

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1
  • Genital ambiguity or discordant external genitalia
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T991
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81173x1, 81400x1, 81404x1, 81405x1, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gottlieb, Beitel, Trifiro. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2014 Jul 10]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  2. Shoubridge et al., (2010) Patho Genetics 3:1 (PMID: 20148114).
  3. Wada et al. (2013) AJNR Am J Neuroradiol 34 (10):2034-8 (PMID: 23681356)
  4. Kim et al., (2008) American Journal of Human Genetics 83(4):511-519 (PMID: 18834967)
  5. Ghizzoni et al. (2011) Endocrine Development 20 :54-62 (PMID: 21164259)
  6. Kim et al. (2008) J. Clin. Endocrinol. Metab. 93 (3):696-702 (PMID: 18182448)
  7. Zhang et al. (2015) J. Steroid Biochem. Mol. Biol. 150 :11-6 (PMID: 25697092)
  8. Yao et al. (2013) Gynecol. Endocrinol. 29 (1):10-5 (PMID: 22954317)
  9. Nowaczyk. Smith-Lemli-Opitz Syndrome. 1998 Nov 13 [Updated 2013 Jun 20]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  10. Canto et al. (2004) The Journal Of Clinical Endocrinology And Metabolism 89 (9):4480-3 (PMID: 15356051)
  11. Das et al., (2011) Eur J Med Genet 54(6):e529-534 (PMID: 21816240)
  12. Andola et al., (2015) British Journal of Medicine & Medicine Research 9(12):1-8.
  13. Lindqvist et al. (2001) The Journal Of Clinical Endocrinology And Metabolism 86 (2):921-3 (PMID: 11158067)
  14. Mendonca et al. (2016) J. Steroid Biochem. Mol. Biol. : (PMID: 27163392)|
  15. Moisan et al. (1999) J. Clin. Endocrinol. Metab. 84 (12):4410-25 (PMID: 10599696)
  16. Simard et al. (2000) Endocr. Res. 26 (4):761-70 (PMID: 11196452)
  17. Thiel et al., (2011) American Journal of Human Genetics 88(1):106-114 (PMID: 21211617)
  18. Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development. 2008 May 21 [Updated 2016 Jun2]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  19. Cragun D, Hopkin RJ. Cytochrome P450 Oxidoreductase Deficiency. 2005 Sep 8 [Updated 2009 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.
  20. Mansour et al., (1995) Journal of Medical Genetics 32(6):415-420 (PMID: 7666392)
  21. Maimoun et al., (2011) The Journal of Clinical Endocrinology and Metabolism 96(2):296-307 (PMID: 21147889)
  22. Lin et al., (1991) J Clin Invest 88:1955-1962 (PMID: 1661294)
  23. Bose et al., (1996) New Engl J Med 335:1870-1878 (PMID: 8948562)
  24. Dome JS, Huff V. Wilms Tumor Predisposition. 2003 Dec 19 [Updated 2016 Oct 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  25. Cassia Amaral et al., (2015) Clin Endocrinol (Oxf) 82(2):274-279 (PMID: 25074426)
  26. Umehara et al., (2000) Am J Hum Genet 67:1302-1305 (PMID: 11017805)
  27. Boehmer et al. (1999) The Journal Of Clinical Endocrinology And Metabolism 84 (12):4713-21 (PMID: 10599740)
  28. Cohen-Kettenis, et al. (2005) Archives Of Sexual Behavior 34 (4):399-410 (PMID: 16010463)
  29. Merrill et al., (2009) American Journal of Human Genetics 84(4):542-549 (PMID: 19361615)
  30. Fukami et al. (2005) The Journal Of Clinical Endocrinology And Metabolism 90 (1):414-26 (PMID: 15483095)
  31. Mansour et al., (2002) Journal of Medical Genetics 39(8):597-602 (PMID: 12161603)
  32. Lalani et al., (2006) American Journal of Human Genetics 78(2):303-314 (PMID: 16400610)
  33. Ruf et al. (2004) Kidney Int. 66 (2):564-70 (PMID: 15253707)
  34. Eddy and Mauer (1985) J. Pediatr. 106 (4):584-7 (PMID: 2984395)
  35. Dao et al. (1987) Am. J. Hum. Genet. 41 (2):202-17 (PMID: 3039839)
  36. Mueller (1994) J. Med. Genet. 31 (6):471-7 (PMID: 8071974)
  37. Barbaux et al. (1997) Nature Genetics 17 (4):467-70 (PMID: 9398852)
  38. Ezaki et al. (2015) Cancer Prev Res (Phila) 8 (4):271-6 (PMID: 25623218)
  39. Ono and Harley (2013) Nat Rev Endocrinol 9(2):79-91 (PMID: 23296159)

Dysmorphology and MCA Disorders

Van der Woude Syndrome (IRF6)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA62
4 weeks
2-5 mL Blood - Lavender Top Tube
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
TCOF1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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.
TBX1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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
Prolidase Deficiency (PEPD)

Forms and Documents

Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier Testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TB16
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Oral-Facial-Digital Syndrome Type 1 (OFD1, aka CXORF5)

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
  • Deletion/Duplication Analysis

Ordering

TB27
3 weeks
2-5 mL Blood - Lavender Top Tube
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
NSD1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

406
4 weeks
2-5 mL Blood - Lavender Top Tube
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
Noonan and Comprehensive RASopathies Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
  • Diagnosis in a patient based on clinical diagnosis
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA06
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81442x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
NF2 Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NF2, SMARCB1
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

963
3 weeks
2-5 mL Blood - Lavender Top Tube
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)
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
  • Deletion/Duplication Analysis
  • MLPA
  • Next-Gen Sequencing

Ordering

962
3 weeks
2-5 mL Blood - Lavender Top Tube
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)
Kabuki Syndrome (KMT2D)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

TB04
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
Holt-Oram Syndrome (TBX5)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TB22
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com
GPC3 Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

415E
4 weeks
2-5 mL Blood - Lavender Top Tube
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
GLI3 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

472
4 weeks
2-5 mL Blood - Lavender Top Tube
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
Feingold Syndrome (MYCN)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA63
3 weeks
2-5 mL Blood - Lavender Top Tube
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
EYA1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

315E
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) Syndrome and TP63-Related Disorders (TP63)

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
  • Deletion/Duplication Analysis

Ordering

TA52
3 weeks
2-5 mL Blood - Lavender Top Tube
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
CREBBP Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

2923
3 weeks
2-5 mL Blood - Lavender Top Tube
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.
Craniofrontonasal dysplasia (EFNB1)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TB26
3 weeks
2-5 mL Blood - Lavender Top Tube
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.
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
  • Deletion/Duplication Analysis
  • MLPA
  • Next-Gen Sequencing

Ordering

961
3 weeks
2-5 mL Blood - Lavender Top Tube
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)
CHARGE syndrome (CHD7)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TB21
4 weeks
2-5 mL Blood - Lavender Top Tube
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
Branchiootic Syndrome 3 (SIX1)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

TA71
3 weeks
2-5 mL Blood - Lavender Top Tube
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

Endocrine Disorders

SRY Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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)
Pendred Syndrome/DFNB4 Nonsyndromic Hearing Loss (SLC26A4)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

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

Ordering

TB03
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
Premature Ovarian Failure Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

BMP15, CYP17A1, CYP19A1, ESR1, FGFR1, FIGLA, FSHR, GDF9, KISS1, KISS1R, LHB, LHCGR, NOBOX, NR5A1, POR, PROK2, PROKR2, PSMC3IP, SEMA3A, TAC3, TACR3, WDR11
  • 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
  • Deletion/Duplication Analysis

Ordering

677
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x2, 81406x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Persani et al., (2010) J Mol Endocrinol 45:257-279 (PMID: 20668067).
  2. Shelling (2010) Reproduction 140(5):633-641 (PMID: 20716613).
  3. Woad et al., (2006) Aust N Z J Obstet Gynaecol 46(3):242-244 (PMID: 16704481).
  4. Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816 (PMID: 21739597).
  5. Willemsen et al., (2011) Clin Genet 80(3):214-225 (PMID: 21651511).
  6. ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010 (PMID: 20859177).
  7. Conte et al., (1994) J Clin Endocrinol Metab 78(6):1287-1292 (PMID: 8200927).
  8. Jones et al., (2006) Trends Endocrinol Metab 17(2):53-62 (PMID: 16480891).
  9. Lourenco et al., (2009) N Engl J Med 360:1-11 (PMID: 19246354).
  10. Bennett (2004) Pharmacogenomics 5(4):433-438 (PMID: 15165179).
  11. McConkie-Rosell et al., (2005) J Genet Couns14:249-270 (PMID: 16047089).
  12. Bouilly et al., (2011) Hum Mutat 32(10):1108-1113 (PMID: 21837770).
  13. Qin et al., (2007) Am J Hum Genet 81(3):576-581 (PMID: 17701902).
  14. Tiotiu et al., (2010) Hum Reprod 25(6):1581-1587 (PMID: 20364024)
  15. Laissue et al., (2006) Eur J Endocrinol 154(5):739-744 (PMID: 16645022).
  16. Zhao et al., (2008) Am J Hum Genet 82(6):1342-1348 (PMID: 18499083).
  17. Quaynor et al., (2013) N Engl J Med 368(2): 164-171 (PMID: 23841731).
  18. Bernard et al., (2017) J Clin Endocrinol Metab 102(1): 93-99 (PMID: 27754803).
  19. Caronia et al., (2011) N Engl J Med 364(3): 215-225 (PMID: 21247312).
  20. Topaloglu et al., N Engl J Med (2012) 366: 629-635 (PMID: 22335740).
  21. Valdez-Socin et al., (2014) Front Endocrinol 9;5: 109 (PMID: 25071724).
  22. Gianetti et al., (2010) J Clin Endocrinol Metab 96(6): 2857-2856 (PMID: 20332248).
  23. Hanchate et al., (2012) PLoS Genet 8(8): e1002896 (PMID: 22927827).
  24. Kim et al., (2010) Am J Hum Genet 87(4): 465-476 (PMID: 20887964).
  25. Fortuno and Labarta (2014) J Assist Reprod Genet 31(12): 1575-1585 (PMID: 25227694).
  26. Qin et al., (2015) Hum Reprod 21(6): 787-808 (PMID: 26243799).
POR Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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
X-linked Adrenal Hypoplasia Congenita (NR0B1 aka DAX1)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA89
4 weeks
2-5 mL Blood - Lavender Top Tube
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
Maturity-Onset Diabetes of the Young (MODY) Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ABCC8, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1(IPF1)
  • 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
  • Deletion/Duplication Analysis

Ordering

674
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gardner and Tai (2012) Diabetes Metab Syndr Obes 5:101-8 (PMID: 22654519)
  2. Steck and Winter (2011) Curr Opin Endocrinol Diabetes Obes 18:252-8. (PMID: 21844708)
  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-.
  4. Bennett (2004) Pharmacogenomics 5(4):433-8. (PMID: 15165179)
  5. Raile et al., (2009) Clin Endocrinol Metab 94(7):2658–64. (PMID: 19417042)
  6. Mefford et al., (2007) Am J Hum Genet 81(5):1057-69. (PMID: 17924346)
  7. McDonald et a., (2013) Ann Clin Biochem 50(5): 403-15.(PMID: 23878349)
  8. Anik et al., (2014) J Pediatr Endocrinol Metab 28(3-4): 251-63 (PMID: 25581748)
  9. Prudente et al., (2015) Am J Hum Genet 97: 177-185. (PMID: 26073777)
  10. Stanley et al. (2000) Diabetes 49 (4):667-73 (PMID: 10871207)
  11. Rahman et al. (2015) Journal Of Molecular Endocrinology 54 (2):R119-R129 (PMID: 25733449)
Hypogonadotropic Hypogonadism Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ANOS1, CHD7, CYP19A1, DUSP6, ESR1, FEZF1, FGF17, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11
  • 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 variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

676
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x2, 81406x2, 81407x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [Updated 2017 Mar 2]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993
  2. Brioude et al., (2010) Eur J Endocrinol 162:835-851 (PMID: 20207726)
  3. Kim et al., (2008) Am J Hum Genet 83(4):511-519 (PMID: 18834967)
  4. Dubern et al., (2012) Biochimie 94 (10): 2111-2115 (PMID: 22627381)
  5. Faroqui et al., (2007) The New England Journal Of Medicine 356 (3):237-247 (PMID: 17229951)
  6. Arnhold et al., (2009) Horm. Res. 71: 75-82 (PMID: 19129711)
  7. Raivio et al., (2007) N Engl J Med 357(9):863-873 (PMID: 17761590)
  8. Silveira et al., (2010) Mol Cell Endocrinol 324(1-2):30-38 (PMID: 20188792)
  9. Luo et al. (2015) Gynecol Endocrinol 31(7): 516-521 (PMID:26036718)
  10. Leschek et al., (2001) J. Pediat. 138: 949-951 (PMID: 11391350)
  11. Quaynor et al., (2011) Fertil Steril 96(6): 1424-1430 (PMID: 22035731)
  12. Bianco & Kaiser, (2009) Nat Rev Endocrinol 5(10):569-576 (PMID: 19707180)
CYP17A1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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.
CASR Gene Sequencing and Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TB31
4 weeks
2-5 mL Blood - Lavender Top Tube
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
Androgen Insensitivity Syndrome (AR)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives of an affected male
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA57
4 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

81173x1
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.
Allgrove (Triple-A) Syndrome (AAAS)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA56
4 weeks
2-5 mL Blood - Lavender Top Tube
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

ENT Disorders

Hearing Loss Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2(CX26), GJB3(CX31), GJB6(CX30), GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-CO1, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, 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
  • Genetic counseling, especially recurrence risk and prenatal diagnosis.
  • Next-Gen Sequencing
  • Long Range PCR
  • Sanger/ABI sequencing
  • Deletion/Duplication Analysis

Ordering

J806
4 weeks
2-5 mL Blood - Lavender Top Tube
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)

Hematologic Disorders

Congenital Sideroblastic Anemia Panel

Forms and Documents

Test Requisition Test Info Sheet

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
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

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

Billing

81465x1, 81479x1
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. Eu
  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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J450
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1, 81479x1
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

  • 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
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
Severe Congenital Neutropenia, Autosomal Dominant (ELANE aka ELA2)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ELANE (ELA2)
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA48
3 weeks
2-5 mL Blood - Lavender Top Tube
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

  • 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
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.
Severe Congenital Neutropenia, Autosomal Recessive (HAX1)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA70
3 weeks
2-5 mL Blood - Lavender Top Tube
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
  • Capillary Sequencing
  • PCR & Electrophoresis

Ordering

188
4 weeks
2-5 mL Blood - Lavender Top Tube
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

  • 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
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
Congenital Amegakaryocytic Thrombocytopenia (MPL)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA47
3 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

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
SBDS Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
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
  • Deletion/Duplication Analysis

Ordering

2341
3 weeks
2-5 mL Blood - Lavender Top Tube
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

  • 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
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

  • 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
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

  • 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
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
Hermansky-Pudlak Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
  • Confirmation of a clinical diagnosis
  • Carrier testing for family members of the affected patient
  • Preparation for prenatal testing in future pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TB48
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
HFE-Associated Hereditary Hemochromatosis (HFE-HH)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • HFE-HH can be confirmed with molecular genetic testing by identifying biallelic pathogenic variants in the HFE gene. The majority (~90%) of HH patients have biallelic pathogenic variants in the HFE gene.
  • Capillary Sequencing

Ordering

TF77
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81256x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Immunologic Disorders

X-linked Thrombocytopenia –or– X-linked Neutropenia (WAS)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Determination of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA97
3 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

81406x1
No
Yes
  • 279.12 Wiskott-Aldrich syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Jin et al., (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 104(13): 4010-4019.
  2. Devriendt et al., (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 3:313-317.
  3. Imai et al., (2003) WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 6:427-436.
  4. Ancliff et al., (2006) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood. 108(7): 2182-2189.
IRAK4 Deficiency (IRAK4)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier detection or diagnosis in asymptomatic relatives
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA69
3 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

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

References

  1. Picard,C. et al., Pyogenic bacterial infections in humans with IRAK4 deficiency; Science 299: 2076, 2003
  2. Ku. C-L. et al., Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity; JEM 204: 2407, 2007
  3. Ku, C-L, et al., IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease; J. Med Genet 44:16-23, 2007
Hyper-IgM Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AICDA, CD40, CD40LG, UNG
  • Confirmation of a clinical diagnosis.
  • Differential diagnosis from other types of B cell immunodeficiency.
  • Appropriate medical management.
  • Carrier testing in siblings or other relatives.
  • Prenatal diagnosis.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T995
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Revy P et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000 102(5):565-75.11007475
  2. Kasahara Y et al. Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase. The Journal Of Allergy And Clinical Immunology. 2003 112(4):755-60.14564357
  3. Durandy A et al. Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. Human Mutation. 2006 27(12):1185-91.16964591
  4. Lee WI et al. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood. 2005 105(5):1881-90.15358621
  5. Etzioni A and Ochs HD. The hyper IgM syndrome--an evolving story. Pediatric Research. 2004 56(4):519-25.15319456
  6. Durandy A et al. Hyper-IgM syndromes. Current Opinion In Rheumatology. 2006 18(4):369-76.16763457
  7. Ferrari S et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proceedings Of The National Academy Of Sciences Of The United States Of America. 2001 98(22):12614-9.11675497
  8. Mazzolari E et al. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplantation. 2007 40(3):279-81.17502893
  9. Lanzi G et al. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood. 2010 116(26):5867-74.20702779
  10. Imai K et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nature Immunology. 2003 4(10):1023-8.12958596
  11. Hunter ZR et al. IgA and IgG hypogammaglobulinemia in Waldenström\\\'s macroglobulinemia. Haematologica. 2010 95(3):470-5.19903677
Hyper-IgE Syndromes Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

DOCK8, SPINK5, STAT3, TYK2
  • Differential diagnosis for patients with elevated IgE
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

678
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1, 81479x1
Yes
Yes
  • 513 Abscess of lung and mediastinum
  • 680 Carbuncle and furuncle Includes: boil furunculosis
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
  • 482 Other bacterial pneumonia
  • 481 Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia], Lobar pneumonia, organism unspecified
* For price inquiries please email zebras@genedx.com

References

  1. Minegishi Y et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyperIgE syndrome, Nature 448:1058-1062, 2007
  2. Holland SM et al., STAT3 mutations in the Hyper-IgE syndrome, NEJM 357:1608-1619, 2007.
  3. Renner ED et al., STAT3 mutation in the original patient with Job’s syndrome, NEJM 357:1667-1668, 2007
  4. Schimke, LF et al, Diagnostic approaches to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis, J Allergy Clin Immunol, 126:611- 617, 2010.
  5. Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations, NEJM 361:2046- 2055, 2009.
  6. gelhardt, KR, et al., Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome, J Allergy Clin Immunol 124:1289- 1302, 2009.
Comprehensive SCID Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ADA, AK2, ATM, CD3D, CD3E, CD3Z, CORO1A, DCLRE1C (ARTEMIS), DOCK8, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RMRP, STIM1, TBX1, ZAP70
  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

601
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1, 81408x1, 81479x1
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768.
  2. Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
  3. Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11.
  4. Roberts, JL, 2004, Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation, Blood 103:2009-2018.
  5. Butte MJ et al., 2007, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD, Clinical Immunology 125(2):159-64.
  6. Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
  7. Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4
  8. Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.
Chronic Granulomatous Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CYBA, CYBB, NCF1, NCF2, NCF4
  • Confirmation of clinical or laboratory diagnosis.
  • Carrier testing or rapid diagnosis in relatives.
  • Prenatal diagnosis.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T989
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

References

  1. Yu G et al. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. Clinical Immunology (Orlando, Fla.). 2008 128(2):117-26.18625437
  2. Roos D et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells, Molecules & Diseases. 2010 45(3):246-65.20729109
  3. Roos D et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells, Molecules & Diseases. 2010 44(4):291-9.20167518
  4. Matute JD et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009 Oct 8 114(15):3309-15.19692703
B-positive SCID Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ATM, CD3D, CD3E, CD3Z, CORO1A, DOCK8, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STIM1, TBX1, ZAP70
  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

602
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1, 81408x1, 81479x1
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768
  2. Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
  3. Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11
  4. Roberts, JL, 2004, Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation, Blood 103:2009-2018.
  5. Butte MJ et al., 2007, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD, Clinical Immunology 125(2):159-64.
  6. Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
  7. Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4.
  8. Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.
B-negative SCID Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ADA, AK2, DCLRE1C (ARTEMIS), LIG4, NHEJ1, PRKDC, RAC2, RAG1, RAG2
  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

603
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x8
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768.
  2. Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
  3. Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11.
  4. Roberts, JL, 2004, Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation, Blood 103:2009-2018
  5. Butte MJ et al., 2007, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD, Clinical Immunology 125(2):159-64.
  6. Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
  7. Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4.
  8. Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.
Autoimmune Lymphoproliferative Syndrome Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CASP10, CASP8, FASLG, TNFRSF6
  • Confirmation of the clinical diagnosis. Differentiation from malignant forms of lymphoproliferation.
  • Distinguish sub-type of ALPS.
  • Development of an appropriate treatment plan for affected individuals.
  • Development of an appropriate medical surveillance plan for relatives at risk of lymphoma.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T990
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

References

  1. Su HC and Lenardo MJ. Genetic defects of apoptosis and primary immunodeficiency. Immunology And Allergy Clinics Of North America. 2008 28(2):329-51, ix.18424336
  2. Wang J et al. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999 Jul 9 98(1):47-58.10412980
  3. Zhu S et al. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Human Genetics. 2006 119(3):284-94.16446975
  4. Chun HJ et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature. 2002 419(6905):395-9.12353035
  5. Cerutti E et al. Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. Bmc Immunology. 2007 8:28.17999750
  6. Jackson CE et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. American Journal Of Human Genetics. 1999 64(4):1002-14.10090885
  7. Vaishnaw AK et al. The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. The Journal Of Clinical Investigation. 1999 Feb 103(3):355-63.9927496
  8. Niemela J et al. Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings. Journal Of Clinical Immunology. 2015 May 35(4):348-55.25814141
  9. Shah S et al. Autoimmune lymphoproliferative syndrome: an update and review of the literature. Current Allergy And Asthma Reports. 2014 Sep 14(9):462.25086580
  10. Del-Rey M et al. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood. 2006 Aug 15 108(4):1306-12.16627752
  11. Magerus-Chatinet A et al. Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. The Journal Of Allergy And Clinical Immunology. 2013 Feb 131(2):486-90.22857792
  12. Ruiz-García R et al. Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. Pediatric Research. 2015 Dec 78(6):603-8.26334989
  13. Nabhani S et al. A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome. Clinical Immunology (Orlando, Fla.). 2014 Dec 1
Autoimmune Polyendocrinopathy/APECED (AIRE)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TB19
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81406x1
No
Yes
  • 112 Candidiasis Includes: infection by Candida species moniliasis
  • 255.4 Corticoadrenal insufficiency
  • 252.1 Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
* For price inquiries please email zebras@genedx.com

References

  1. Podkrajsek KT et al., 2008, Detection of complete autoimmune regulator gene deletion and two additional novel mutations [in atypical] autoimmune polyglandular syndrome type 1; Eur J Endocrinol 159: 633
  2. Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
  3. Cetani F et al, 2001, A novel mutation of the [AIRE] gene… acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747
Dyskeratosis Congenita Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
  • 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TB47
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

Pulmonology Disorders

CFTR Sequencing and Deletion/Duplication Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Testing of individuals with symptoms and/or a clinical diagnosis of cystic fibrosis
  • Testing of individuals with symptoms and/or a clinical diagnosis of a CFTR-related disorder
  • Testing of newborns with a positive newborn screening result when mutation testing (using the standard 23-mutation panel) had a negative result.
  • Testing of individuals with a negative carrier screening result, but a family history of cystic fibrosis.
  • This test is not recommended for routine carrier screening.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T829
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81222x1, 81223x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Moskowitz, S. M. et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet. Med. Off. J. Am. Coll. Med. Genet. 10, 851–868 (2008).
  2. Ong, T. et al. Cystic Fibrosis and Congenital Absence of the Vas Deferens. in GeneReviews® (eds. Adam, M. P. et al.) (University of Washington, Seattle, 1993).
  3. Farrell, P. M. et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J. Pediatr. 181S, S4-S15.e1 (2017).
  4. Gilljam, M. et al. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 126, 1215–1224 (2004).
  5. Ren, C. L. et al. Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis. J. Pediatr. 181S, S45-S51.e1 (2017).
  6. Cystic Fibrosis Foundation et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J. Pediatr. 1
  7. Bombieri, C. et al. Recommendations for the classification of diseases as CFTR-related disorders. J. Cyst. Fibros. Off. J. Eur. Cyst. Fibros. Soc. 10 Suppl 2, S86-102 (2011).
  8. Abeliovich, D. et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet. 51, 951–956 (1992).
  9. Hamosh, A. et al. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J. Pediatr. 132, 255–259 (1998).
  10. Clinical and Functional Translation of CFTR. Available at: https://www.cftr2.org/. (Accessed: 19th March 2018)
  11. LaRusch, J. et al. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genet. 10, e1004376 (2014).
  12. Yu, J., Chen, Z., Ni, Y. & Li, Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum. Reprod. Oxf. Engl. 27, 25–35 (2012).
  13. Grangeia, A. et al. Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. Genet. Med. Off. J. Am. Coll. Med. Genet. 9, 163–172 (2007).
  14. Langfelder-Schwind, E. et al. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J. Genet. Couns. 23, 5–15 (2014).
  15. Watson, M. S. et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. Off. J. Am. Coll. Med. Genet. 6, 387–391 (2004).
Primary Ciliary Dyskinesia

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ARMC4, C21ORF59 [CFAP298], CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, DNAAF1, DNAAF2, DNAAF3, DNAAF5 [HEATR2], DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DRC1, DYX1C1 [DNAAF4], GAS8, LRRC6, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10.
  • Identification of specific molecular basis of Primary Ciliary Dyskinesia
  • Genetic counseling and recurrence risk assessment
  • Carrier testing for unaffected family members
  • Prenatal testing or potential for PGD
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TB46
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ABCA3, CSF2RA, CSF2RB, SFTPB, SFTPC
  • Identification of the specific molecular basis of lung disease
  • Genetic counseling and recurrence risk assessment
  • Preparation for prenatal testing in future pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TB49
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Alpha-1 Antitrypsin Deficiency, S and Z alleles Targeted Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Evaluate for two most common pathogenic variants (S and Z alleles in SERPINA1 gene), associated with Alpha-1 Antitrypsin Deficiency
  • Capillary Sequencing

Ordering

TF73
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81332x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Renal Disorders

Dent Disease, X-linked Recessive Nephrolithiasis (CLCN5)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA59
3 weeks
2-5 mL Blood - Lavender Top Tube
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
Dent Disease 2/Lowe Syndrome (OCRL)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of clinical or biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA73
3 weeks
2-5 mL Blood - Lavender Top Tube
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
Buccal Swabs

Billing

81406x1; 81479x1
Yes
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)
Chronic Kidney Disease Risk

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Testing for the G1 and G2 risk alleles in APOL1
  • Risk assessment for chronic kidney disease in individuals of African descent
  • Evaluation of a potential living kidney donor
  • Capillary Sequencing

Ordering

TF74
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ATP8B1, JAG1, NOTCH2
  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Identification of individuals with milder manifestations
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Evaluation of family members as possible donors for liver transplantation
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially regarding recurrence risk and prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG20
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x1; 81407x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Alport Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Differentiation between X-linked and autosomal recessive or dominant forms of the disease
  • Evaluation of family members as possible donors for kidney transplantation
  • 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
  • Genetic counseling, especially recurrence risk and prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG21
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81407x1; 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com
Senior-Loken Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CEP290, INVS, IQCB1, NPHP1, NPHP3, TRAF3IP1
  • Molecular confirmation of a clinical diagnosis.
  • Development of appropriate evaluation and management plan
  • 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
  • Genetic counseling, especially recurrence risk and prenatal diagnosis.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG26
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81405x1; 81406x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com
Cystic Kidney and Liver Diseases Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GANAB, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, PRKCSH, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney/liver transplantation;
  • 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;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG23
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x2; 81407x1; 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com
Polycystic Kidney Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GANAB, HNF1B, PKD1, PKD2, PKHD1, PRKCSH, TSC2
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney transplantation;
  • 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;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Test is designed to identify a contiguous gene deletion involving PKD1 and TSC2, not to identify sequencing and exon-level copy number variants of TSC2

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG22
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x1; 81407x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com
Polycystic Liver Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ALG8, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney/liver transplantation;
  • 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;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG27
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x1; 81407x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com
Rest of Cystic Kidney and Liver Diseases after Polycystic Kidney Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GLIS2, GLIS3, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PMM2, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney transplantation;
  • 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;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG25
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81405x1; 81406x2; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com
Rest of Cystic Kidney and Liver Diseases after Polycystic Liver Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AHI1, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PMM2, RMND1, RPGRIP1L, SEC61A1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney/liver transplantation;
  • 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;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG24
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81405x2; 81406x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

Rheumatologic Disorders

MEFV Select Exons Sequencing

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
  • Capillary Sequencing

Ordering

214
3 weeks
2-5 mL Blood - Lavender Top Tube
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

  • 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
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
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
Buccal Swabs

Billing

81404x1, 81479x1
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
TNFRSF1A Select Exons Sequencing

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
  • Capillary Sequencing

Ordering

215
3 weeks
2-5 mL Blood - Lavender Top Tube
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

Skeletal Disorders

Campomelic Dysplasia (SOX9)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of the clinical diagnosis
  • To differentiate CD from other skeletal dysplasias such as osteogenesis imperfecta (OI), thanatophoric dysplasia, spondyloepiphyseal dysplasia congenita, and others
  • Prenatal diagnosis for a known familial mutation
  • Prenatal diagnosis when ultrasound findings are suggestive of campomelic dysplasia
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TA74
4 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

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

References

  1. Mansour et al., (1995) J Med Genet 32:415-420; Mansour et al., (2002) J Med Genet 39:597-602
  2. Wagner et al., (Cell) 79:1111-1120. Cameron et al., (1996) Hum Mol Genet 5(10):1625-1630
  3. Smyk et al., (2007) Am J Med Genet 143A(8):866-870
  4. Pop et al., (2004) J Med Genet 41:e47
  5. Meyer et al., (1997) Hum Mol Genet 6(1):91-98
  6. Pop et al. (2005) Hum Genet 117:43-53
  7. Huang et al., (1999) Am J Med Genet 87:349-353
  8. Refai et al., (2010) Am J Med Genet A 152A:422-426.Moog et al., (2001) Am J Med Genet 104:239-245
SH3BP2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • To differentiate Cherubism from other disorders with cystic jaw lesions (as described above)
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

285
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
  • 526.89 Other Cherubism Fibrous dysplasia of jaw(s), Latent bone cyst of jaw(s), Osteoradionecrosis of jaw(s), Unilateral condylar hyperplasia or hypoplasia of mandible
* For price inquiries please email zebras@genedx.com

References

  1. Pina-Nito, J.M. et al. Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet. 25: 433-41, 1986
  2. van Capelle, C.I. et al. Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr. 166: 905-9, 2007
  3. Martinez-Tello, F.J. et al. Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings. Skeletal Radiol. 34: 793-8, 2005
  4. Anderson, D.E. and McClendon J.L., Cherubismhereditary fibrous dysplasia of the jaws; I genetic considerations. Oral Surg Oral Med Oral Pathol. 15 Suppl 2: 5- 16, 1962
  5. Peters, W.J., Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol. 47: 307-11, 1979
  6. Lietman, S.A. et al., Identification of a Novel Mutation of SH3BP2 in Cherubism and Demonstration that SH3BP2 Mutations Lead to Increased BFAT Activation. Hum Mutat. 27:717-8, 2006
  7. Ueki, Y. et al., Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 28:125-125, 2001
  8. de Lange, J. et al., A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Path Oral Radiol Endod. 103:378-81, 2007
  9. Li, Cui Ying and Yu, Shi Feng, A novel mutation in the SH3BP2 gene causes cherubism: case report BMC Med Genet. 7: 84, 2006
  10. Imai, Y. et al., A Missense Mutation in the SH3BP2 Gene on Chromosome 4p16.3 Found in a Case of Nonfamilial Cherubism. Cleft Palate Craniofac J. 40:632-8, 2003
  11. Lo, B. et al., Novel mutation in the gene encoding c-Abl binding protein SH3BP2 causes cherubism. Am J Med Genet A. 121:37-40, 2003
RMRP Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Differentiation between CHH and other causes of dwarfism
  • Identification of patients at increased risk of infections or cancer
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

225
3 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 404.2 Abnormalities of the hair
  • 757 Congenital anomalies of the integument; Includes: anomalies of skin, subcutaneous tissue, hair, nails, and breast
  • 259.4 Dwarfism, not elsewhere classified Dwarfism: NOS constitutional
  • 783.4 Lack of expected normal physiological development in childhood
  • 733 Other disorders of bone and cartilage
* For price inquiries please email zebras@genedx.com

References

  1. Ridanpaa M, et al., Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia Cell 104:195-203 (2001)
  2. Bonafe L, et al., RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of singlenucleotide polymorphisms Clin Genet 61:146-151 (2002)
  3. Ridanpaa, M, et al., Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A?G mutation of the untranslated RMRP Eur J of Hum Genet 10:439-447 (2002)
PHEX Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

1861E
3 weeks
2-5 mL Blood - Lavender Top Tube
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)
Osteogenesis Imperfecta Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ALPL, ANO5, B3GAT3, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of osteogenesis imperfecta
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between the different causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J797
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x2, 81408x2
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.
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
  • Deletion/Duplication Analysis

Ordering

J801
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1 81479x1
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.
Hypophosphatasia and Hypophosphatemic Rickets Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX, SLC34A3, VDR
  • 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T994
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x1, 81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yamamoto et al., (2000) J Am Soc Nephrol 11(8): 1460-8 (PMID: 10906159)
  2. Durmaz et al., (2012) Clin Endocrinol (Oxf) 7(3):363-9 (PMID: 22443290)
  3. Thacher et al., (2015) J Clin Endocrinol Metab 100(7):E1005-13 (PMID: 25942481)
  4. Lorenz-Depiereux et al., (2006) Nat Genet 38:1248-50 (PMID: 17033625)
  5. Lorenz-Depiereux et al. (2010) Am J Hum Genet 86 (2):267-72 (PMID: 20137773)
  6. ADHR Consortium, Nat Genet (2000) 26(3):345-348 (PMID: 11062477)
  7. Gaucher et al., (2009) Hum Genet 125(4): 401-11 (PMID: 19219621)
  8. Lorenz-Depiereux et al., (2006) Am J Hum Genet 79(2):193-201 (PMID: 16358215)
  9. Feldman and Malloy, (2014) Bonekey Rep 5;3: 510 (PMID: 24818002)
  10. Mansour-Hendili et al., (2015) Hum Mut 36(8):743-52 (PMID: 25907713)
  11. Guven et al., (2017) Clin Endocrinol (Oxf) 87(1):103-112 (PMID: 28383812)
  12. Shah et al., (2014) Nerphol Dial Transplant 29(12): 22235-43 (PMID: 25378588)
  13. Phulwani et al., (2011) Am J Hum Genet 155A(3): 626-33 (PMID: 21344632)
  14. Malloy et al. (2014) Molecular Genetics And Metabolism 111 (1):33-40 (PMID: 24246681)
  15. Capelli et al., (2015) Bone 79:143-9 (PMID: 26051471)
  16. Dixon et al., (1998) J Clin Endocrinol Metab 83(10):3615-23 (PMID: 9768674)
  17. Hoopes et al., (2004) Kidney Int 65(5):1615-20 (PMID: 15086899)
  18. Slater et al., (2017) J Pharm Pract 30(1):31-36 (PMID: 26038244)
Hereditary Multiple Exostoses Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

EXT1, EXT2, PTPN11
  • Confirmation of the clinical diagnosis
  • To differentiate between the disorders presenting with osteochondromas
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T996
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

References

  1. Jennes et al. (2009) Human Mutation 30 (12):1620-7 (PMID: 19810120).
  2. Signori et al. (2007) Genes, Chromosomes & Cancer 46 (5):470-7 (PMID: 17301954).
  3. Vink et al. (2005) European Journal Of Human Genetics : Ejhg 13 (4):470-4 (PMID: 15586175).
  4. Porter et al. (2004) J Bone Joint Surg Br 86 (7):1041-6 (PMID: 15446535).
  5. Bowen et al. (2011) P Lo S Genetics 7 (4):e1002050 (PMID: 21533187).
  6. Fisher et al. (2013) J Child Orthop 7 (6):455-64 (PMID: 24432109).
  7. Jennes et al. (2008) The Journal Of Molecular Diagnostics : Jmd 10 (1):85-92 (PMID: 18165274).
  8. Wuyts W, Schmale GA, Chansky HA, et al. Hereditary Multiple Osteochondromas. 2000 Aug 3 [Updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  9. Pedrini et al. (2005) Human Mutation 26 (3):280 (PMID: 16088908).
  10. Wuyts et al. (2005) Clinical Genetics 68 (6):542-7 (PMID: 16283885).
  11. Heinritz et al. (2009) Annals Of Human Genetics 73 (Pt 3):283-91 (PMID: 19344451).
Pseudoachondroplasia/Multiple Epiphyseal Dysplasia (COMP)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

TA61
4 weeks
2-5 mL Blood - Lavender Top Tube
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)
Coffin-Siris Syndrome

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of Coffin-Siris Syndrome
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T993
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

References

  1. Schrier Vergano S, Santen G, Wieczorek D, et al. Coffin-Siris Syndrome. 2013 Apr 4 [Updated 2018 Feb 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  2. Tsurusaki et al. (2012) Nature Genetics 44 (4):376-8 (PMID: 22426308)
  3. Van et al. (2012) Nature Genetics 44 (4):445-9, S1 (PMID: 22366787)
  4. Tsurusaki et al. (2014) Nature Communications 5 :4011 (PMID: 24886874)
  5. Wieczorek et al. (2013) Hum. Mol. Genet. 22 (25):5121-35 (PMID: 23906836)
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
  • Deletion/Duplication Analysis

Ordering

J804
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
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
Autosomal Dominant Osteogenesis Imperfecta Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

COL1A1, COL1A2, IFITM5
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of osteogenesis imperfecta
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between the different causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T992
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81408x2
No
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.
ARSE Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in female relatives
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

282E
4 weeks
2-5 mL Blood - Lavender Top Tube
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.
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
  • Deletion/Duplication Analysis

Ordering

J799
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
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
Treacher Collins Syndrome

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1
  • Confirmation of a clinical diagnosis
  • Targeted testing of at-risk family members
  • Targeted testing of at-risk pregnancies
  • Next-Gen Sequencing

Ordering

TA38
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DVL1, DVL3, ROR2, WNT5A
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of Robinow Syndrome
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA39
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

Forms and Documents

Test Requisition Test info sheet

Test Details

ALPL, ALX4, ASXL1, CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IL11RA, MASP1, MEGF8, MSX2, P4HB, POR, RAB23, RECQL4, SEC24D, SKI, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR35, ZIC1
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of craniosynostosis
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA40
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81175x1; 81403x1; 81404x3; 81405x2
No
Yes
* For price inquiries please email zebras@genedx.com
Ectrodactyly/Split Hand-Split Foot Malformation Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

BHLHA9, BTRC, CDH3, DLX5, DPCD, DYNC1I1, FBXW4, FGFR1, LBX1, POLL, TP63, WNT10B
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of slimb abnormalities
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Panel includes expanded deletion/duplication testing for chromosomal region 10q24.

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA41
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81405x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Limb Abnormalities and Reduction Defects Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ANKRD11, ARHGAP31, ARID1A, ARID1B, BHLHA9, BMP2, BMPR1B, BTRC, CC2D2A, CDH3, CEP290, CHSY1, DLL4, DLX5, DOCK6, DPCD, DVL1, DVL3, DYNC1I1, EOGT, ESCO2, FBXW4, FGF10, FGF16, FGFR1, FGFR2, FGFR3, GDF5, GLI3, GNAS, HDAC4, HDAC8, HOXD13, IHH, KIF7, KMT2A, LBX1, LMBR1, LRP4, MGP, MKS1, MYCN, NIPBL, NOG, NOTCH1, NSDHL, PHF6, PIGV, POLL, PTHLH, RAD21, RBM8A, RBPJ, RECQL4, ROR2, RPGRIP1L, SALL1, SALL4, SHH, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SOX9, TBX15, TBX3, TBX5, THPO, TP63, WNT10B, WNT3, WNT5A, WNT7A
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of slimb abnormalities
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA42
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81404x2; 81405x1; 81407x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com
Adams-Oliver Syndrome

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
  • Confirmation of a clinical diagnosis
  • Targeted testing of at-risk family members
  • Targeted testing of at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA46
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81407x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Skeletal Dysplasia

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of skeletal dysplasia
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA43
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81404x1; 81408x2; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Baraitser-Winter Syndrome

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACTB, ACTG1
  • Diagnosis in a patient based on clinical diagnosis.
  • Diagnosis for known familial pathogenic variant(s).
  • Distinguish between causes Baraister-Winter syndrome.
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA44
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

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

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, GNA11, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of abnormal mineralization
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

TA45
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81404x1; 81405x1; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com
FGFR-Related Disorders Panel

Rare Disorders Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).

How do I determine if a variant is eligible for the Rare Disorders VTP?

GeneDx considers requests for the Rare Disorders VTP for any individual found to have a VUS in a disease-causing gene through exome or genome sequencing at our laboratory. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Genetic testing for other variants or additional family members, including predictive testing, is not included in our VTP and can be ordered separately for charge. GeneDx will make the final determinations for VTP in its sole discretion.

Application process for the Rare Disorders VTP:

  • Please fax a detailed pedigree and any relevant clinical information/evaluations to the GeneDx Rare Disorders VTP genetic counselors at 301-519-2892, email zebras@genedx.com, or call 301-519-2100 and ask to speak with an Rare Disorders genetic counselor. Please be sure to indicate that you are submitting the information for VTP consideration, and include the name and/or GeneDx accession number of the proband.
  • Our team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within a few days, but please allow up to 3 weeks after receipt of the application for a reply.
  • A member of our team will contact the ordering clinician after the case has been reviewed to let him/her know if the family has been accepted in the VTP. If we are extending an offer for family member variant testing at no additional charge, we will discuss logistics of sample submission at that time.

Reasons why a family might not be accepted into the Rare Disorders VTP:

  • The VUS is in a gene for which there is no currently described phenotype (i.e. candidate or novel gene).
  • There are no informative family members available for testing.
  • In certain circumstances, it may be more informative to perform more comprehensive diagnostic genetic testing in affected family member(s) instead of targeted testing of one or more unaffected relatives for a VUS.
  • Segregation studies involving genes with incomplete penetrance or variable age-of-onset are challenging, especially in unaffected individuals; therefore, VTP studies are less likely to be approved for such genes.
  • Segregation studies involving genes that may cause either an autosomal dominant or an autosomal recessive disorder are also more challenging than studies involving highly penetrant autosomal dominant genes; therefore, VTP studies are less likely to be approved for such genes.
  • Variant studies for the evaluation of a single VUS in a gene associated with an autosomal recessive disorder are rarely informative. Therefore, these requests are typically denied.

Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the VTP will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.

For more information please contact:
The GeneDx Rare Disorders genetic counselors at 301-519-2100