Hermansky-Pudlak syndrome
Analysis ID 126
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hermansky-Pudlak syndrome
OMIM #203300
Clinical information Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder of abnormal platelet function characterized by oculo-cutaneous albinism and bleeding. There are known at least 8 known loci for Hermansky-Pudlak syndrome.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HPS1
Analysis description Analysis of a common mutation in HPS1 gene
Analysis indication Symptoms of Hermansky-Pudlak syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders