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GJB6 Gene Sequencing

New York
Approved


Genes

GJB6 (Cx30)

Conditions

  • Clouston Syndrome
  • Hidrotic ectodermal dysplasia
  • Sensorineural Hearing Loss (SNHL)

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

Test Code

157

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.