Waardenburg Syndrome Panel
Genes
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
- Genetic counseling, especially recurrence risk
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Test Code
TL50
CPT Codes*
81479x3
ABN Required
No
Turnaround Time**
4 weeks
Preferred Specimen
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing