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.
Our Albinism Panel includes sequence analysis of the following 20 genes: TYR, OCA2, TYPR1, SLC45A2, SLC24A5, C10ORF11, GPR143, HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DNTBP1, BLOC1S3, BLOC1S6, LYST, MYO5A, RAB27A, MLPH.
Any gene in the Albinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information.