Multiplex Ligation-dependent Probe Amplification (MLPA) for deletuion/ duplication ananlysis , Sequence analysis of the entire coding region Albinism are thetests 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. GPR143 (Xp22.2).
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Ocular Albinism (OA) affects only the eyes, not the skin or hair. It results from an Xlinked chromosomal inheritance and occurs mostly in males. The four types of oculocutaneous albinism are designated as type 1 (OCA1) through type 4 (OCA4).Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people.