OCA2 Sequencing

Test Background

Oculocutaneous albinism (OCA) type 2 in individuals of sub-Saharan African heritage is most commonly caused by a 2.7 kb deletion in the OCA2 gene. Other mutations are responsible for OCA2 in individuals of non-African heritage. Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the skin and hair. Eye findings include nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerve fiber radiations at the chiasm, associated with strabismus, reduced stereoscopic vision, and altered visual evoked potentials (VEP).

This laboratory performs Sanger sequencing of the OCA2 gene as well as deletion analysis for the 2.7 kb deletion common in the sub-Saharan African population.

Gene(s): 

OCA2

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.