Albinism, NGS


Genetic analysis to identify mutations causing albinism; confirm diagnosis and genetic counseling.
Genelist (35): AP3B1, AP3D1, ATP7A, BLOC1S3, BLOC1S5, BLOC1S6, DCT, DTNBP1, EDN3, EDNRB, EPG5, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, LRMDA, LYST, MC1R, MITF, mLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, SNAI2, SOX10, TYR, TYRP1