TYR Sequencing

Test Background

Oculocutaneous albinism (OCA) type 1 is caused by mutations in the tyrosinase gene (TYR, or OCA1). Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair. Eye findings include nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment; foveal hypoplasia with substantial reduction in visual acuity, usually in the range of 20/100 to 20/400; and misrouting of the optic nerve fiber radiations at the chiasm resulting in strabismus, reduced stereoscopic vision, and altered visually evoked potentials (VEP). Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irides, none of which darken with age. Individuals with OCA1B have white or very light yellow hair that darkens minimally with age, white skin that over time develops some minimal generalized pigment and may tan slightly with judicious sun exposure, and blue irides that darken to green/hazel or light brown/tan with age The clinical sensitivity of this test is approximately 80%. This laboratory performs Sanger sequencing of the TYR gene.

Gene(s)

TYR

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.