Oculocutaneous Albinism

Sponsored diagnostic testing programs for Oculocutaneous Albinism

Oculocutaneous albinism is a group of inherited conditions with reduced or absent melanin pigment in the skin, hair, and eyes, leading to light skin and hair, nystagmus, reduced visual acuity, and photophobia. Affected individuals have increased risk of sun damage and skin cancers. Genetic testing identifies the subtype and supports counseling and preventive care.

1 program found for Oculocutaneous Albinism

Programs

1 program
Invitae Unlock™

Invitae Inherited Retinal Disorders Panel

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

Ophthalmology
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Performing labInvitae | Labcorp