Albinism & Hermansky–Pudlak syndrome
July 24 2015
Recommended panel testing at Breda Genetics for this condition: Albinism & Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1) What is the skin and hair color like? Oculocutaneous albinism is characterized by hypopigmentation of the skin and hair (including brows and lashes) and