Genetic Testing for Ocular Disorders

Detects genetic variants associated with pigmentation disorders of skin, hair, and eyes.

Detects genetic variants associated with achromatopsia, a cone disorder with reduced vision and photophobia

Detects genetic variants associated with congenital and early-onset cataracts affecting the crystalline lens

Detects genetic variants associated with inherited retinal dystrophies and progressive vision loss

Detects genetic variants associated with night vision impairment and retinal dysfunction

Detects genetic variants associated with corneal dystrophies and progressive visual impairment

Detects genetic variants associated with ectopia lentis and related ocular or multisystem syndromic conditions

Detects genetic variants associated with inherited retinal disorders with flecked retinal lesions

Detects genetic variants associated with congenital and syndromic glaucoma of the eye

Detects genetic variants associated with Joubert syndrome and multisystem neurodevelopmental disorder

Detects genetic variants associated with severe early-onset retinal dysfunction and visual impairment or blindness

Detects genetic variants associated with macular dystrophies and progressive central vision loss

Detects genetic variants associated with congenital ocular disorders such as microphthalmia and anophthalmia

Detects genetic variants associated with neuro-ophthalmic disorders affecting vision and ocular movements

Detects genetic variants associated with optic nerve degeneration and progressive vision loss

Detects genetic variants associated with inherited retinal dystrophies causing vision loss or blindness

Detects genetic variants associated with retinal degeneration and progressive vision loss

Detects genetic variants associated with kidney dysfunction and progressive retinal degeneration

Detects genetic variants associated with septo-optic dysplasia and abnormalities of vision, pituitary, brain

Detects genetic variants associated with Stickler syndrome affecting vision, hearing and joint function.

Detects genetic variants associated with inherited hearing loss and progressive vision loss.

Detects genetic variants associated with inherited vitreoretinal disorders involving progressive retinal degeneration