GeneDx

Dermatologic Disorders

PORCN Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

PORCN

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Differentiation between de novo and familial cases
Prenatal diagnosis

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

306

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.31 Congenital ectodermal dysplasia

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

LAM5 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

1631

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

KRT9 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

KRT9

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

208

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

759.39 Congenital Keratoderma

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Reis et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet. 1994: 6(2):174-9
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
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

Genes:

Expand Genes

KRT17, KRT6B

Disorders:

Pachyonychia Congenita type 2 (PC2)

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2092

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
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
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

Genes:

Expand Genes

KRT16, KRT6A

Disorders:

Pachyonychia Congenita type 1 (PC1)

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2091

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

759.39 Congenital Keratoderma

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
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

Genes:

Expand Genes

KRT14, KRT5

Disorders:

Epidermolysis Bullosa Simplex

Clinical Utility:

Confirmation of a clinical diagnosis
Genetic counseling and recurrence risk calculation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

168

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

KRT4, KRT13 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

KRT13, KRT4

Disorders:

White Sponge Nevus

Clinical Utility:

1. Confirmation of a clinical diagnosis
2. Identification of other affected family members

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2131

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

KRT2 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

KRT2

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

122

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

KRT1, KRT10

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

1181

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

IKBKG (NEMO)

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier detection in female relatives
Differentiation between forms of the hypohidrotic ectodermal dysplasia
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2862

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

IKBKG (NEMO) Common Deletion

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

IKBKG (NEMO)

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier detection in female relatives
Differentiation between forms of the hypohidrotic ectodermal dysplasia
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Long Range PCR

Ordering

Test Code:

2861

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

MBTPS2

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB14

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Haim-Munk Syndrome/ Papillon-Lefevre Syndrome (CTSC)

Forms and Documents

Test Requisition

Test Details

Genes:

Expand Genes

CTSC

Disorders:

Clinical Utility:

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB15

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Hailey-Hailey Disease (ATP2C1)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

ATP2C1

Disorders:

Hailey-Hailey disease

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA55

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

GJB6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

GJB6 (Cx30)

Disorders:

Clinical Utility:

Confirmation of the clinical diagnosis
To distinguish between different forms of ectodermal dysplasias
Prenatal diagnosis in families with known mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

157

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.31 Congenital ectodermal dysplasia

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Smith et al. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar; 118(3):530-2
van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003 Nov;121(5):1035-8
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

Genes:

Expand Genes

COL7A1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA53

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Varki et al., 2007 J Med Genet 44: 181-192.
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.
Fine J-D, et al. J Am Acad Dermatol 2000;42:1051-106
Rouan F, et al. 1998 J Invest Dermatol.111:1210.
Jarvikallio A et al. 1997 Hum Mutat.10:338.

EDA1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

EDA1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

1601E

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.31 Congenital ectodermal dysplasia

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

DFNB1 Autosomal Recessive Hearing Loss (GJB2 sequencing and common GJB6 deletions)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

GJB2 (Cx26), GJB6

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Assistance with decisions about treatment and management
Distinguishing between non-syndromic hearing loss other and forms of hearing loss
Defining the inheritance pattern in the family or individual
Allowing for testing of at-risk relatives and prenatal diagnosis in families with known pathogenic variant(s)

Lab Method:

Capillary Sequencing

Ordering

Test Code:

TA49

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

812542x1; 81254x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Darier Disease (ATP2A2)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

ATP2A2

Disorders:

Darier Disease

Clinical Utility:

Confirmation of the clinical diagnosis
Identification of at-risk family members
Prenatal diagnosis

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA54

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Connexin Gene Testing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

GJB3 (Cx31), GJB4 (Cx30.3)

Disorders:

Erythrokeratodermia Variabilis (EKV)

Clinical Utility:

Confirmation of the clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

119

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Chronic Granulomatous Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

CYBA, CYBB, NCF1, NCF2, NCF4

Disorders:

Chronic Granulomatous Disease (CGD)

Clinical Utility:

Confirmation of clinical or laboratory diagnosis.
Carrier testing or rapid diagnosis in relatives.
Prenatal diagnosis.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis
Capillary Sequencing

Ordering

Test Code:

T989

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Roos D et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells, Molecules & Diseases. 2010 45(3):246-65.20729109
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
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

Genes:

Expand Genes

EDAR

Disorders:

Ectodermal Dysplasia

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA50

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.31 Congenital ectodermal dysplasia

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Bal, E et al. Hum Mutat. 28:703-709, 2007.
Headon et al. Nature. 414:913-916, 2001.
Monreal et al. Nat Genet 22:366-369, 1999.
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

Genes:

Expand Genes

WNT10A

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA80

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.31 Congenital ectodermal dysplasia

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Bohring et al. Am J Hum Genet. 85:97-105, 2009
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

Genes:

Expand Genes

EDARADD

Disorders:

Ectodermal Dysplasia

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB11

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

ABCC6

Disorders:

Pseudoxanthoma Elasticum (PXE)

Clinical Utility:

Confirmation of a clinical diagnosis
Identification of at-risk family members
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2641

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Pfendner et al. (2007) J Med Genet 44:621-628
Le Saux et al., (2001) Am J Hum Genet 69: 749- 764.
Chassaing et al., (2005) J Med Genet 42:881-892
Laube & Moss, (2005) Arch Dis Child 90:754-756
Bergen et al., (2000) Nat Genet 25(2):228-31
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

Genes:

Expand Genes

ABCC6

Disorders:

Pseudoxanthoma Elasticum (PXE)

Clinical Utility:

Confirmation of a clinical diagnosis
Identification of at-risk family members
Prenatal diagnosis

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2642

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

SRY

Disorders:

Gender Verification

Clinical Utility:

Ambiguous Gender

Ordering

Test Code:

J720

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81400x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493.
Hawkins, J. (1992) Am J Hum Genet 51: 979-984.
Scherer et al., (1998) Cytogenet Cell Genet 80:188-192.
Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25.
Paris et al., (2007) Fertil Steril 88:1437e21-25.
Cameron, et al., (1997) Hum Mutat 9: 388-395.
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

Genes:

Expand Genes

AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1

Disorders:

Clinical Utility:

Genital ambiguity or discordant external genitalia

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T991

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81173x1, 81400x1, 81404x1, 81405x1, 81407x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Dysmorphology and MCA Disorders

Van der Woude Syndrome (IRF6)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

IRF6

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA62

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

TBX1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

TBX1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

358

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Prolidase Deficiency (PEPD)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

PEPD

Disorders:

Prolidase Deficiency

Clinical Utility:

Confirmation of a clinical diagnosis
Development of an appropriate management plan
Prenatal diagnosis in at risk pregnancies
Carrier testing

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TJ38

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Oral-Facial-Digital Syndrome Type 1 (OFD1, aka CXORF5)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

OFD1 (CXORF5)

Disorders:

Oral-Facial-Digital syndrome Type 1

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB27

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Nowaczyk, M. et al. 2003. Am J Med Genet. 123A:179-182
Prattichizzo, C. et al. 2008. Hum Mutat. 29(10):1237-1246
Ferrante, M. et al. 2001. Am J Hum Genet. 68:569-576
Thauvin-Robinet, C. et al. 2008. Hum Mutat Online. 29:E320-329
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

Genes:

Expand Genes

NSD1

Disorders:

Sotos Syndrome

Clinical Utility:

Confirmation of a clinical diagnosis
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

406

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81406x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA06

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81442x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

NF2 Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

LZTR1, NF2, SMARCB1

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

963

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81406x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

NF1 Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

NF1, SPRED1

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
MLPA
Next-Gen Sequencing

Ordering

Test Code:

962

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81408x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Kabuki Syndrome Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

KDM6A, KMT2D

Disorders:

Kabuki syndrome (KS)

Clinical Utility:

Molecular confirmation of 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 and recurrence risk assessmemt

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

TB04

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Wessels et al., (2002) Clinical Dysmorphol 11(2):95–102.
Paulussen et al., (2010) Hum Mutat 32:E2018-E2025.
Ng et al., (2010) Nat Genet 42(9):790-793.
Li et al., (2011) Hum Genet 130(6):715-724.
Lederer et al., (2012) Am J Hum Genet 90:119-124.
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

Genes:

Expand Genes

TBX5

Disorders:

Holt-Oram syndrome

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB22

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

GPC3 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

GPC3

Disorders:

Simpson-Golabi-Behmel Syndrome (SGBS)

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

415E

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
Lindsay, et al., (1997) J. Med. Genet. 34:480-483
Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
Pilia et al., (1996) Nat Genet 12:241-247
Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
Lapunzina (2005) Am J Med Genet C 137C:53-71
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

Genes:

Expand Genes

GLI3

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier testing

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

472

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Furniss et al., (2009) J Med Genet 46:730-735.
Elson et al., (2002) J Med Genet 39:804-806
Debeer et al., (2003) Am J Med Genet Part A 120A:49-58
Biesecker et al., (2008) Orphanet J Rare Dis 3:10
Biesecker (2006) J Med Genet 43:465-469
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

Genes:

Expand Genes

MYCN

Disorders:

Feingold Syndrome

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA63

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Celli, J. et al., (2003)Feingold syndrome: clinical review and genetic mapping Am J Med Genet. 122A: 294-300
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
Van Bokhoven, H. (2006) Personal communication
Celli, J. et al. (2000) Familial syndromic esophageal atresia maps to 2p23-p24.Am J Hum Genet 66:436-444
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

Genes:

Expand Genes

EYA1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

315E

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81406x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Chang E. et. al. (2004). Hum Mutat 23:582-89.
Smith, R. Branchiootorenal Syndrome. (Mar 2008).
Fraser F et. al. (1980) Am J Med Genet 7: 341-349.
Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online.
Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131.
Stockley, T. et al. (2008) Am J Med Genet 149A:322-327.
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

Genes:

Expand Genes

TP73L (TP63)

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA52

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Rinne, T. et al., (2006) Update. Am J Med Genet A. 140A: 1396-1406
van Bokhoven, H. et al., (2001) Am J Hum Genet. 69: 481-92, 2001
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

Genes:

Expand Genes

CREBBP

Disorders:

Rubinstein-Taybi syndrome (RSTS)

Clinical Utility:

Confirmation of a clinical diagnosis
Differentiation between familial and de novo cases

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

2923

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1, 81407x1

New York Approved

No

ABN Required

Yes

ICD Codes:

759.89 Other Congenital malformation syndromes affecting multiple systems

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Craniofrontonasal dysplasia (EFNB1)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

EFNB1

Disorders:

Craniofrontonasal syndrome

Clinical Utility:

Confirmation of a clinical diagnosis
Risk assessment
Prenatal diagnosis in families with a known mutation

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB26

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Wieland, I. et al. Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome. Am J Hum Genet. 74:1209-1215, 2004.
Twigg, S. et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. PNAS. 101:8652-8657, 2004.
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.
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.
Wieland, I. et al. Twenty-Six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS) Hum. Mutat. 26:113-118, 2005.
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

Genes:

Expand Genes

NF1, NF2, SMARCB1, SPRED1

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
MLPA
Next-Gen Sequencing

Ordering

Test Code:

961

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x2, 81406x1, 81408x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

CHARGE syndrome (CHD7)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

CHD7

Disorders:

CHARGE Syndrome

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB21

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81407x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

759.89 Other Congenital malformation syndromes affecting multiple systems

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Stromland et al., (2005) Am J Med Genet 133A:331-339
Vissers et al., (2004) Nat Genet 36:955- 957
Jongmans et al., (2006) J Med Genet 43:306-314
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

Genes:

Expand Genes

SIX1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA71

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Chang E. et. al. (2004). Hum Mutat 23:582-89
Smith, R. Branchiootorenal Syndrome. Disease Overview. In: GeneClinics: Clinical Genetic Information Resource [database online]
Fraser F et. al. (1980) Am J Med Genet 7: 341-349
Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online
Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095
Stockley, T. et al. (2008) Am J Med Genet 149A:322-327
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

Genes:

Expand Genes

SRY

Disorders:

46,XY Gonadal Dysgenesis (SRY-related)

Clinical Utility:

Confirmation of clinical diagnosis
Inconsistency of gender identification between karyotype and ultrasound findings

Lab Method:

Capillary Sequencing

Ordering

Test Code:

259

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81400x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493
Hawkins, J. (1992) Am J Hum Genet 51: 979-984
Scherer et al., (1998) Cytogenet Cell Genet 80:188-192
Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25
Paris et al., (2007) Fertil Steril 88:1437e21-25
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

Genes:

Expand Genes

SLC26A4

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB03

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

677

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x2, 81406x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

X-linked Adrenal Hypoplasia Congenita (NR0B1 aka DAX1)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

NR0B1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA89

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Bardoni et al., (1994) Nat Genet 7:497-501
Salvi et al., (2002) J Clin Endocrinol Metab 87:4094-4100
Lin et al., (2006) J Clin Endocrinol Metab 91:3048-3054
Muscatelli et al., (1994) Nature 372:672-676
McCabe ERB (2007) Mol Cell Endocrinol 265- 266:179-182
Ho et al., (2004) Mol Genet Metab 83:330-336
Zhang et al., (1998) Am J Hum Genet 62:855-864
Barbaro et al., (2008) Clin Genet 73:453-464
Shaikh et al., (2008) J Med Genet 45:e1
Seminara et al., (1999) J Clin Endocrinol Metab 84:4501- 4509
Merke et al., (1999) NEJM 340:1248-1252
Mantovani et al., (2002) J Clin Endocrinol Metab 87:44-48
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

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

674

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1, 81405x2, 81406x2, 81407x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

676

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x2, 81406x2, 81407x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Brioude et al., (2010) Eur J Endocrinol 162:835-851 (PMID: 20207726)
Kim et al., (2008) Am J Hum Genet 83(4):511-519 (PMID: 18834967)
Dubern et al., (2012) Biochimie 94 (10): 2111-2115 (PMID: 22627381)
Faroqui et al., (2007) The New England Journal Of Medicine 356 (3):237-247 (PMID: 17229951)
Arnhold et al., (2009) Horm. Res. 71: 75-82 (PMID: 19129711)
Raivio et al., (2007) N Engl J Med 357(9):863-873 (PMID: 17761590)
Silveira et al., (2010) Mol Cell Endocrinol 324(1-2):30-38 (PMID: 20188792)
Luo et al. (2015) Gynecol Endocrinol 31(7): 516-521 (PMID:26036718)
Leschek et al., (2001) J. Pediat. 138: 949-951 (PMID: 11391350)
Quaynor et al., (2011) Fertil Steril 96(6): 1424-1430 (PMID: 22035731)
Bianco & Kaiser, (2009) Nat Rev Endocrinol 5(10):569-576 (PMID: 19707180)

CASR Gene Sequencing and Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

CASR

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB31

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1

New York Approved

No

ABN Required

Yes

ICD Codes:

275.4 Disorders of calcium metabolism

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Androgen Insensitivity Syndrome (AR)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

AR

Disorders:

Androgen Insensitivity Syndrome (AIS)

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier detection in female relatives of an affected male

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA57

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81173x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Allgrove (Triple-A) Syndrome (AAAS)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

AAAS

Disorders:

Clinical Utility:

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)

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA56

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

POR Gene Sequencing and Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

POR

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Development of an appropriate management plan
Prenatal diagnosis in at risk pregnancies
Carrier testing

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TJ36

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

ENT Disorders

Hearing Loss Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

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)

Disorders:

Clinical Utility:

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.

Lab Method:

Next-Gen Sequencing
Long Range PCR
Sanger/ABI sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J806

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81430x1, 81431x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

938

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Billing

CPT Codes** :

81465x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Diamond-Blackfan Anemia Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7

Disorders:

Clinical Utility:

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.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J450

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

DKC1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

DKC1

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

108

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

284 Aplastic anemia and other bone marrow failure syndromes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006
Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432
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

Genes:

Expand Genes

ELANE (ELA2)

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA48

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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.
Horwitz, M., Mutations in ELA2, encoding neutrophil elastase, define a 210day biological clock in cyclic haematopoiesis, Nat. Gen. 23:433-436, 1999.
Dale et al, Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia, Blood 96: 2317-2322, 2000

F12 Codon 328 Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

F12

Disorders:

Hereditary Angioedema (HAE) Type III

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

388

Turnaround Time *:

2-3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81403x1

New York Approved

No

ABN Required

Yes

ICD Codes:

995.1 Angioneurotic edema, Giant urticaria

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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.
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.
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.
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

Genes:

Expand Genes

HAX1

Disorders:

Severe Congenital Neutropenia

Clinical Utility:

Confirmation of a clinical diagnosis
Prenatal diagnosis

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA70

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
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
Germeshausen M, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype correlations, Blood 111:4954, 2008
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
Klein C., et al, HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease), Nature Genetics 39:86-90, 2007
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

Genes:

Expand Genes

HPS1, HPS3

Disorders:

Hermansky-Pudlak Syndrome

Clinical Utility:

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

Lab Method:

Capillary Sequencing
PCR & Electrophoresis

Ordering

Test Code:

188

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
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
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

Genes:

Expand Genes

HPS3

Disorders:

Hermansky-Pudlak Syndrome

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

189

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Oh, J., et al., Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat. Gen., 14;300-306, 1996
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

Genes:

Expand Genes

MPL

Disorders:

Congenital Amegakaryocytic Thrombocytopenia (CAMT)

Clinical Utility:

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.

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA47

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81403x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Ballmaier M. et al, 2001, C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia, Blood 97: 139-146
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
Ihara, K et al., 1999, Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia, Proc. Nat. Acad. Sci. 96: 3132-3136
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

Genes:

Expand Genes

SBDS

Disorders:

Shwachman-Diamond Syndrome (SDS)

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

109

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Boocock, G., et al, Mutations in SBDS are associated with Shwachman-Diamond syndrome, 2003, Nature Genetics 33:97-101
Kuijpers, T, et al., Hematologic abnormalities in Shwachman-Diamond syndrome: lack of genotype-phenotype relationship, 2005, Blood 106:356-361
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

Genes:

Expand Genes

SERPING1 (C1INH)

Disorders:

Hereditary Angioedema (HAE) Type I-II

Clinical Utility:

Confirmation of a clinical diagnosis
Selection of appropriate prophylaxis and treatment
Identification of at-risk family members
Prenatal diagnosis

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

2341

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

277.6 Other deficiencies of circulating enzymes, Hereditary angioedema

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Kalmár, L. et al., HAEdb: A Novel Interactive, Locus-Specific Mutation Database for the C1 Inhibitor Gene. Hum Mutat. 25: 1-5, 2005.
Kalmár, L. et al., Mutation Screening for the C1 Inhibitor Gene Among Hungarian Patients With Hereditary Angioedema. Hum Mutat. 22:498, 2003.
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.
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

Genes:

Expand Genes

TERC

Disorders:

Dyskeratosis Congenita

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

107

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

284 Aplastic anemia and other bone marrow failure syndromes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006
Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432
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
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

Genes:

Expand Genes

TERT

Disorders:

Dyskeratosis Congenita

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

682

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

284 Aplastic anemia and other bone marrow failure syndromes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006.
Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432.
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.
Goldman F et al, The effect of TERC haploinsufficiency on the inheritance of telomere length, 2005, PNAS 102:17119.
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.
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.
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.
Walne et al., Advances in the understanding of dyskeratosis congenita. 2009. British Journal of Haematology. 145:164-172.
Savage et al., (2010) The genetics and clinical manifestations of telomere biology disorders. Genet Med. 12(12):753-64.
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

Genes:

Expand Genes

TINF2

Disorders:

Dyskeratosis Congenita

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

414

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

284 Aplastic anemia and other bone marrow failure syndromes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
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

Genes:

Expand Genes

AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

Disorders:

Hermansky-Pudlak Syndrome

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier testing for family members of the affected patient
Preparation for prenatal testing in future pregnancies

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB48

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

HFE-Associated Hereditary Hemochromatosis (HFE-HH)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

HFE

Disorders:

HFE-Associated Hemochromatosis

Clinical Utility:

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.

Lab Method:

Capillary Sequencing

Ordering

Test Code:

TF77

Turnaround Time *:

2 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81256x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Immunologic Disorders

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

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

WAS

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Determination of appropriate treatment
Identification of at-risk family members
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA97

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1

New York Approved

No

ABN Required

Yes

ICD Codes:

279.12 Wiskott-Aldrich syndrome

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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.
Devriendt et al., (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 3:313-317.
Imai et al., (2003) WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 6:427-436.
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

Genes:

Expand Genes

IRAK4

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier detection or diagnosis in asymptomatic relatives
Prenatal diagnosis

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA69

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Picard,C. et al., Pyogenic bacterial infections in humans with IRAK4 deficiency; Science 299: 2076, 2003
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
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

Genes:

Expand Genes

AICDA, CD40, CD40LG, UNG

Disorders:

Hyper-IgM Syndromes

Clinical Utility:

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.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T995

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1, 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
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
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
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
Etzioni A and Ochs HD. The hyper IgM syndrome--an evolving story. Pediatric Research. 2004 56(4):519-25.15319456
Durandy A et al. Hyper-IgM syndromes. Current Opinion In Rheumatology. 2006 18(4):369-76.16763457
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
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
Lanzi G et al. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood. 2010 116(26):5867-74.20702779
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
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

Genes:

Expand Genes

DOCK8, SPINK5, STAT3, TYK2

Disorders:

Clinical Utility:

Differential diagnosis for patients with elevated IgE
Confirmation of a clinical diagnosis
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Next-Gen Sequencing
ExonArray CGH

Ordering

Test Code:

678

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Minegishi Y et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyperIgE syndrome, Nature 448:1058-1062, 2007
Holland SM et al., STAT3 mutations in the Hyper-IgE syndrome, NEJM 357:1608-1619, 2007.
Renner ED et al., STAT3 mutation in the original patient with Job’s syndrome, NEJM 357:1667-1668, 2007
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.
Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations, NEJM 361:2046- 2055, 2009.
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

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

601

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81408x1, 81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768.
Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11.
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.
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.
Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4
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

Genes:

Expand Genes

CYBA, CYBB, NCF1, NCF2, NCF4

Disorders:

Chronic Granulomatous Disease (CGD)

Clinical Utility:

Confirmation of clinical or laboratory diagnosis.
Carrier testing or rapid diagnosis in relatives.
Prenatal diagnosis.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis
Capillary Sequencing

Ordering

Test Code:

T989

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Roos D et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells, Molecules & Diseases. 2010 45(3):246-65.20729109
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
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

Genes:

Expand Genes

ATM, CD3D, CD3E, CD3Z, CORO1A, DOCK8, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STIM1, TBX1, ZAP70

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

602

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81408x1, 81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768
Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11
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.
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.
Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4.
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

Genes:

Expand Genes

ADA, AK2, DCLRE1C (ARTEMIS), LIG4, NHEJ1, PRKDC, RAC2, RAG1, RAG2

Disorders:

Clinical Utility:

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

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

603

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x8

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768.
Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11.
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
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.
Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4.
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

Genes:

Expand Genes

CASP10, CASP8, FASLG, TNFRSF6

Disorders:

Clinical Utility:

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.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T990

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Autoimmune Polyendocrinopathy/APECED (AIRE)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

AIRE

Disorders:

Clinical Utility:

Confirmation of a clinical diagnosis
Selection of appropriate treatment
Identification of at-risk family members
Prenatal diagnosis
Carrier testing in siblings or other relatives

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB19

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
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

Genes:

Expand Genes

ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53

Disorders:

Dyskeratosis Congenita

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB47

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Pulmonology Disorders

CFTR Sequencing and Deletion/Duplication Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

CFTR

Disorders:

Clinical Utility:

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.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T829

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81222x1, 81223x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Primary Ciliary Dyskinesia

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

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.

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB46

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Surfactant Dysfunction Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ABCA3, CSF2RA, CSF2RB, SFTPB, SFTPC

Disorders:

Clinical Utility:

Identification of the specific molecular basis of lung disease
Genetic counseling and recurrence risk assessment
Preparation for prenatal testing in future pregnancies

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TB49

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Alpha-1 Antitrypsin Deficiency, S and Z alleles Targeted Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SERPINA1

Disorders:

Alpha-1 Antitrypsin Deficiency

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

TF73

Turnaround Time *:

2 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81332x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Renal Disorders

Dent Disease, X-linked Recessive Nephrolithiasis (CLCN5)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

CLCN5

Disorders:

Dent Disease

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA59

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Rebelo et al., (2005) An Acad Bras Cienc 77(1):95-101
Hoopes et al., (2005) Am J Hum Genet 76:260- 267
Ludwig et al., (2005) Hum Genet 117:228-237
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

Genes:

Expand Genes

OCRL

Disorders:

Clinical Utility:

Confirmation of clinical or biochemical diagnosis
Carrier testing
Prenatal diagnosis in at risk pregnancies

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA73

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Leahey et al. Hum Mol Genet 4:461-463, 1993
Utsch et al., Am J Kidney Dis 48, 942
Lin et al., Am J Hum Genet 60:1384-1388, 1997
Suchy et al., Hum Mutat 4:2245-2250, 1995
Hoopes et al., Am J Hum Genet 76:260-267, 2005
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

Chronic Kidney Disease Risk

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

APOL1

Disorders:

Chronic Kidney Disease Risk

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

TF74

Turnaround Time *:

2 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Alagille Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ATP8B1, JAG1, NOTCH2

Disorders:

Alagille syndrome

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG20

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1; 81407x1; 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Alport Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9

Disorders:

Alport Syndrome

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG21

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81407x1; 81408x2

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Senior-Loken Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

CEP290, INVS, IQCB1, NPHP1, NPHP3, TRAF3IP1

Disorders:

Clinical Utility:

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.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG26

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1; 81406x1; 81408x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Cystic Kidney and Liver Diseases Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Notes:

Sequencing of the PKD1 gene is challenging due to high homology with six known pseudogenes (exons 1-33).
Our NGS assay is specifically designed to provide superior mapping quality and uniform coverage across the coding region of PKD1, enabling robust detection of variants including indels. For mapping quality of >20, 99.7% of the targeted nucleotides have a mean coverage of 264 reads; even at a mapping quality of >40, mean coverage is 254x.
PKD1 variants are confirmed by long-range, nested PCR and capillary sequencing.
For Deletion/Duplication analysis, Multiplex Ligaton-Dependent Probe Amplification (MLPA) is performed.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG23

Turnaround Time *:

4-6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x2; 81407x1; 81408x2

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Polycystic Kidney Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

GANAB, HNF1B, PKD1, PKD2, PKHD1, PRKCSH, TSC2

Disorders:

Clinical Utility:

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

Notes:

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.
Sequencing of the PKD1 gene is challenging due to high homology with six known pseudogenes (exons 1-33).
Our NGS assay is specifically designed to provide superior mapping quality and uniform coverage across the coding region of PKD1, enabling robust detection of variants including indels. For mapping quality of >20, 99.7% of the targeted nucleotides have a mean coverage of 264 reads; even at a mapping quality of >40, mean coverage is 254x.
PKD1 variants are confirmed by long-range, nested PCR and capillary sequencing.
For Deletion/Duplication analysis, Multiplex Ligaton-Dependent Probe Amplification (MLPA) is performed.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG22

Turnaround Time *:

4-6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1; 81407x1; 81408x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Polycystic Liver Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ALG8, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63

Disorders:

Clinical Utility:

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

Notes:

Sequencing of the PKD1 gene is challenging due to high homology with six known pseudogenes (exons 1-33).
Our NGS assay is specifically designed to provide superior mapping quality and uniform coverage across the coding region of PKD1, enabling robust detection of variants including indels. For mapping quality of >20, 99.7% of the targeted nucleotides have a mean coverage of 264 reads; even at a mapping quality of >40, mean coverage is 254x.
PKD1 variants are confirmed by long-range, nested PCR and capillary sequencing.
For Deletion/Duplication analysis, Multiplex Ligaton-Dependent Probe Amplification (MLPA) is performed.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG27

Turnaround Time *:

4-6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1; 81407x1; 81408x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Rest of Cystic Kidney and Liver Diseases after Polycystic Kidney Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG25

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1; 81406x2; 81408x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Rest of Cystic Kidney and Liver Diseases after Polycystic Liver Disease Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG24

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x2; 81406x1; 81408x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Distal Renal Tubular Acidosis Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ATP6V0A4, ATP6V1B1, CA2, HNF4A, SLC34A1, SLC4A1

Disorders:

Clinical Utility:

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 and recurrence risk assessment

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG97

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1; 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Bartter Syndrome Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

AP2S1, BSND, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, GNA11, HSD11B2, KCNJ1, MAGED2, SLC12A1

Disorders:

Bartter Syndrome

Clinical Utility:

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 and recurrence risk assessment

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG96

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x2; 81405x1; 81406x1; 81407x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Hypokalemia and Related Disorders Panel

Nephrolithiasis and Nephrocalcinosis Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ADCY10, AGXT, ALPL, AP2S1, APRT, ATP6V0A4, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLPB, CYP24A1, FAM20A, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, LRP2, MAGED2, MOCOS, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, VDR, XDH

Disorders:

Clinical Utility:

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 and recurrence risk assessment

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TH01

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1; 81405x1; 81406x2; 81407x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Nephrotic Syndrome/Focal Segmental Glomerulosclerosis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ACTN4, ADCK4(COQ8B), ALG1, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, FAN1, FAT1, FN1, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHP1, NPHS1, NPHS2, NUP107, NUP205, NUP93, OCRL, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SGPL1, SMARCAL1, STS, TBC1D8B, TRPC6, TTC21B, WDR73, WT1, XPO5

Disorders:

Clinical Utility:

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 and recurrence risk assessment

Notes:

Test is designed to identify G1 and G2 risk alleles only in the APOL1 gene

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis
Capillary Sequencing

Ordering

Test Code:

TG99

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x2; 81406x2; 81407x1; 81408x2

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Rheumatologic Disorders

MEFV Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

MEFV

Disorders:

Familial Mediterranean Fever

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

214

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81402x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

MVK Select Exons

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

MVK

Disorders:

Hyper-IgD Syndrome

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

216

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Cuisset et al., (2001) Eur J Hum Genet 9:260-266
Mandey et al., (2006) Hum Mutat 27:796-802
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

Genes:

Expand Genes

NLRP3 (CIAS1)

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

217

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

367

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

TNFRSF1A Select Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

TNFRSF1A

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

215

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Skeletal Disorders

Campomelic Dysplasia (SOX9)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SOX9

Disorders:

Campomelic Dysplasia (CD)

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA74

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Mansour et al., (1995) J Med Genet 32:415-420; Mansour et al., (2002) J Med Genet 39:597-602
Wagner et al., (Cell) 79:1111-1120. Cameron et al., (1996) Hum Mol Genet 5(10):1625-1630
Smyk et al., (2007) Am J Med Genet 143A(8):866-870
Pop et al., (2004) J Med Genet 41:e47
Meyer et al., (1997) Hum Mol Genet 6(1):91-98
Pop et al. (2005) Hum Genet 117:43-53
Huang et al., (1999) Am J Med Genet 87:349-353
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

Genes:

Expand Genes

SH3BP2

Disorders:

Cherubism

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

285

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
van Capelle, C.I. et al. Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr. 166: 905-9, 2007
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
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
Peters, W.J., Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol. 47: 307-11, 1979
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
Ueki, Y. et al., Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 28:125-125, 2001
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
Li, Cui Ying and Yu, Shi Feng, A novel mutation in the SH3BP2 gene causes cherubism: case report BMC Med Genet. 7: 84, 2006
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
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

Genes:

Expand Genes

RMRP

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing

Ordering

Test Code:

225

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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)
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)
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

Genes:

Expand Genes

PHEX

Disorders:

Hypophosphatemic Rickets, X-linked

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

1861E

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1, 81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

ALPL, ANO5, B3GAT3, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1

Disorders:

Osteogenesis Imperfecta (OI)

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J797

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x2, 81408x2

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Barkova, E et. al. (2014). Clinical Genetics, PMID: 24863959
Dighe, M, et. al. (2008). Radiographics 28(4), 1061-1077. PMID: 18635629
Valadares, ER, et. al (2014). Jornal De Pediatria, 90(6), 536-541. PMID: 25046257
Noel, AE & Brown RN (2014). International Journal of Women’s Health, 6, 489-500. PMID: 24868173
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.

Hypophosphatemic Rickets Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX, SLC34A3, VDR

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T994

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1, 81406x1, 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Genes:

Expand Genes

EXT1, EXT2, PTPN11

Disorders:

Clinical Utility:

Confirmation of the clinical diagnosis
To differentiate between the disorders presenting with osteochondromas
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T996

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x1, 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Jennes et al. (2009) Human Mutation 30 (12):1620-7 (PMID: 19810120).
Signori et al. (2007) Genes, Chromosomes & Cancer 46 (5):470-7 (PMID: 17301954).
Vink et al. (2005) European Journal Of Human Genetics : Ejhg 13 (4):470-4 (PMID: 15586175).
Porter et al. (2004) J Bone Joint Surg Br 86 (7):1041-6 (PMID: 15446535).
Bowen et al. (2011) P Lo S Genetics 7 (4):e1002050 (PMID: 21533187).
Fisher et al. (2013) J Child Orthop 7 (6):455-64 (PMID: 24432109).
Jennes et al. (2008) The Journal Of Molecular Diagnostics : Jmd 10 (1):85-92 (PMID: 18165274).
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.
Pedrini et al. (2005) Human Mutation 26 (3):280 (PMID: 16088908).
Wuyts et al. (2005) Clinical Genetics 68 (6):542-7 (PMID: 16283885).
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

Genes:

Expand Genes

COMP

Disorders:

Clinical Utility:

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

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA61

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

756.56 Multiple epiphyseal dysplasia

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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

Coffin-Siris Syndrome

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11

Disorders:

Coffin-Siris syndrome

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T993

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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.
Tsurusaki et al. (2012) Nature Genetics 44 (4):376-8 (PMID: 22426308)
Van et al. (2012) Nature Genetics 44 (4):445-9, S1 (PMID: 22366787)
Tsurusaki et al. (2014) Nature Communications 5 :4011 (PMID: 24886874)
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

Genes:

Expand Genes

AGPS, ARSE, EBP, GNPAT, PEX7

Disorders:

Rhizomelic chondrodysplasia punctata (RCDP)

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J804

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
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-
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

Genes:

Expand Genes

COL1A1, COL1A2, IFITM5

Disorders:

Osteogenesis Imperfecta (OI)

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

T992

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81408x2

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Barkova, E et. al. (2014). Clinical Genetics, PMID: 24863959
Dighe, M, et. al. (2008). Radiographics 28(4), 1061-1077. PMID: 18635629
Valadares, ER, et. al (2014). Jornal De Pediatria, 90(6), 536-541. PMID: 25046257
Noel, AE & Brown RN (2014). International Journal of Women’s Health, 6, 489-500. PMID: 24868173
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

Genes:

Expand Genes

ARSE

Disorders:

Chondrodysplasia Punctata (CDPX1)

Clinical Utility:

Confirmation of a clinical diagnosis
Carrier testing in female relatives
Prenatal diagnosis in families with a defined mutation

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

282E

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

756.59 Chondrodysplasia punctata epiphysealis

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

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
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
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

Genes:

Expand Genes

COL2A1, SLC26A2, TRIP11

Disorders:

Achondrogenesis

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J799

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Noel, AE & Brown RN (2014). International Journal of Women\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\
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

Genes:

Expand Genes

DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1

Disorders:

Treacher Collins Syndrome (TCS)

Clinical Utility:

Confirmation of a clinical diagnosis
Targeted testing of at-risk family members
Targeted testing of at-risk pregnancies

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TA38

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Robinow Syndrome

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

DVL1, DVL3, ROR2, WNT5A

Disorders:

Robinow Syndrome

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA39

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Craniosynostosis Panel

Forms and Documents

Test Requisition Test info sheet

Test Details

Genes:

Expand Genes

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

Disorders:

Craniosynostosis

Clinical Utility:

Molecular confirmation of a clinical diagnosis
Distinguish between causes of craniosynostosis
Genetic counseling
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA40

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81175x1; 81403x1; 81404x3; 81405x2

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Ectrodactyly/Split Hand-Split Foot Malformation Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

BHLHA9, BTRC, CDH3, DLX5, DPCD, DYNC1I1, FBXW4, FGFR1, LBX1, POLL, TP63, WNT10B

Disorders:

Ectrodactyly/Split Hand-Split Foot Malformation

Clinical Utility:

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

Notes:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA41

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1; 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Limb Abnormalities and Reduction Defects Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA42

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x2; 81405x1; 81407x1; 81408x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Adams-Oliver Syndrome

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ

Disorders:

Adams-Oliver syndrome

Clinical Utility:

Confirmation of a clinical diagnosis
Targeted testing of at-risk family members
Targeted testing of at-risk pregnancies

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA46

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81407x1; 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Skeletal Dysplasia

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA43

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1; 81408x2; 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Baraitser-Winter Syndrome

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

ACTB, ACTG1

Disorders:

Baraitser-Winter Syndrome

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TA44

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Abnormal Mineralization Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, GNA11, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR

Disorders:

Clinical Utility:

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

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis
Capillary Sequencing

Ordering

Test Code:

TA45

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1; 81405x1; 81406x2

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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

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