Mutations in the HPS1 (10q24.2) gene are responsible for approximately 45% of all cases in non-Puerto Rican populations. In Puerto Ricans, a 16bp duplication (c.1470_1486dup), in the HPS1 gene, causes 75% of all cases. Please note that this test is for the HPS1 gene only, so mutations in the HPS2-HPS9 genes will not be identified.
- Confirmation of a clinical diagnosis of Hermansky-Pudlak syndrome.
- Carrier testing in adults with a family history of Hermansky-Pudlak syndrome.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.