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GJB6 Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

GJB6 (Cx30)

Disorders:

• Clouston Syndrome
• Hidrotic ectodermal dysplasia

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:

4-5 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

List Price:

$500.00

Billing Information:

View Billing Policy

ICD Codes:

• 757.31: Congenital ectodermal dysplasia

REFERENCES

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

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