Waardenburg Syndrome Panel

Concurrent analysis of multiple genes associated with Waardenburg syndrome, characterized by hearing loss and pigmentation abnormalities. 

Test Overview

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
  • Genetic counseling, especially recurrence risk

Test Details

Genes

EDN3, EDNRB, KIT, KITLG, MITF, PAX3, SNAI2, SOX10

Conditions

  • Albinism and Deafness (COMMAD)
  • Central Hypoventilation Syndrome
  • Coloboma
  • Craniofacial-deafness-hand Syndrome
  • Cutaneous Mastocytosis
  • Familial Progressive Hyperpigmentation with or without Hypopigmentation
  • Gastrointestinal Stromal Tumor
  • Hearing Loss
  • Hirschsprung Disease
  • Macrocephaly
  • Microphthalmia
  • Osteopetrosis
  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease (PCWH)
  • Piebaldism
  • Susceptibility to Cutaneous Malignant Melanoma
  • Tietz Albinism-Deafness Syndrome
  • Waardenburg Syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TL50
CPT Codes*: 81479x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs