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
- 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
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.
**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.
Test Documents
Billing
Targeted Variant Testing