HERMANSKY-PUDLAK SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 28 genes
Delivery time
3-4 weeks
Sample
Blood
The Hermansky-Pudlak Syndrome (HPS) panel analyzes 28 genes associated with this multisystem autosomal recessive disorder, characterized by oculocutaneous albinism, platelet dysfunction with a bleeding tendency, and, in some subtypes, pulmonary fibrosis or granulomatous colitis. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel identifies mutations in genes involved in the biogenesis of lysosome-related organelles (LROs), vesicular trafficking, and melanin synthesis—key factors in the pathophysiology of the disease. Examples of included genes include: HPS1, HPS3, HPS4, HPS5, HPS6, AP3B1, DTNBP1, BLOC1S5, BLOC1S6, LYST, GPR143, TYR, and TYRP1, among others. The complete list of genes can be obtained by contacting Genotica.
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