HPS1 & HPS3 Mutation Analysis (Puerto Rican)
New York
Approved
Genes
Conditions
- Hermansky-Pudlak Syndrome
Clinical Utility
- Confirmation of a clinical diagnosis in a patient of appropriate ethnic background
- Carrier testing in unaffected family members or unaffected members of the general population of the appropriate ethnic background.
Lab Method
- Capillary Sequencing
- PCR & Electrophoresis
Test Code
188
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.
**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