Hermansky-Pudlak Syndrome-1 (HPS1) Targeted Testing

AKA: Delta Storage Pool Disease
Short Name: HPS1 Targeted

Hermansky-Pudlak Syndrome-1 (HPS) is caused by a pathogenic variant in the HPS1 gene. The condition is autosomal recessive. Defects of multiple cytoplasmic organelles (melanosomes, platelet-dense granules, and lysosomes) result in oculocutaneous albinism, bleeding, and lysosomal ceroid storage. The c.972dupC (p.Met325Hisfs*128) variant in the HPS1 gene has been found in the Amish. This variant will be analyzed by the targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 203300
MedGen: 419514