- Wei & Li (2013). Pigm Cell Melanoma R, 26:176-192
- OMIM #614073: HPS
- OMIM #606682: HPS4 gene
- Confirmation of a clinical diagnosis of HPS.
- Carrier testing in adults with a family history of HPS.
Analytical Sensitivity: ~99%
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: Please do not refrigerate or freeze saliva sample. Please store and ship at room temperature.
- Deletion/duplication analysis of the HPS4 gene by CGH array is available for those individuals in whom sequence analysis is negative.
- 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.