Order Hermansky-Pudlak Syndrome Panel (9 Genes) Test
The Hermansky-Pudlak Syndrome Panel sequences 9 genes associated with Hermansky-Pudlak syndrome (HPS). HPS is a rare, autosomal recessive genetic condition associated with by platelet deficiency, oculocutaneous albinism, visual impairment, nystagmus and pulmonary fibrosis. Read more details about this test.
All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimen is provided on the paperwork. Consent page should be signed by a health care provider. Any incomplete or missing paperwork may delay the start of testing.
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
- Next Generation Sequencing (copy number analysis included when data meets quality standards)
- Sanger Confirmation
7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
The Laboratory for Molecular Medicine offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information.
For questions, please contact us at 617-768-8500 or by email.