Oculocutaneous Albinism, Type 1B (TYR) Targeted Testing

AKA: Yellow Albinism
Short Name: TYR Targeted

Oculocutaneous Albinism is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes. It does not vary with race or age. The disorder is caused by several variants, c.575C>A (p.Ser192Tyr), c.1205G>A (p.Arg402Gln), and c.755T>G (p.Met252Arg), on the TYR gene. All three variants are reported in the Amish and are analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 606952
MedGen: 337712