Waardenburg Syndrome Panel

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
  • Osteopetrosis
  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease (PCWH)
  • Piebaldism
  • Susceptibility to Cutaneous Malignant Melanoma
  • Tietz Albinism-Deafness Syndrome
  • Waardenburg Syndrome
  • Hirschsprung Disease
  • Macrocephaly
  • Microphthalmia

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
  • Deletion/Duplication Analysis

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.

**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.

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