Albinism Panel

Albinism is a group of inherited disorders in which melanin biosynthesis is reduced or absent. The lack or reduction in pigment can affect the eyes, skin and hair, or only the eyes.  In addition, there are several syndromic forms of albinism  in  which the  hypopigmented  and  visual  phenotypes are seen in  addition to other systems involvement. This panel includes genes associated with various subtypes of albinism including Oculocutaneous albinism (OCA), Ocular albinism (OA), Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. The panel includes sequence and deletion/duplication analysis of all the listed genes.