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Therapeutic Area: Ophthalmology

Early-Onset Bilateral Cataracts

Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify the genetic cause of early onset, often bilateral, cataracts through a 66-gene panel. This program is available for patients in the US who meet eligibility criteria and must be ordered by a qualified healthcare provider.

Disease/Condition(s): Early-Onset Bilateral Cataracts

Program Sponsor

Mirum pharma logo

Participating Lab

Prevention Genetics logo

Inherited Retinal Disease

Sponsored, no-charge genetic testing for individuals suspected of or at risk of having an inherited retinal disease (IRD) either from clinical symptoms or family history.

Disease/Condition(s): cone-rod dystrophies (CRD), Inherited Retinal Disease (IRD), Leber congenital amaurosis (LCA), Retinitis pigmentosa (RP), Stargardt disease (STGD)

Program Sponsor

Spark Therapeutics Logo

Participating Lab

Invitae logo
FFB Logo

My Retina Tracker®

The My Retina Tracker® Program provides no-cost genetic testing and genetic counseling for individuals with a clinical diagnosis of an inherited retinal disease (IRD). Targeted familial variant testing is also available to blood relatives of individuals who receive a positive result through the Program and meet certain criteria. This testing program is sponsored by the Foundation Fighting Blindness, a nonprofit organization dedicated to finding treatments for IRDs, and Spark Therapeutics. The genetic testing is performed at PreventionGenetics and the third-party genetic counseling services are provided by InformedDNA.

Disease/Condition(s): cone-rod dystrophies (CRD), Inherited Retinal Disease (IRD), Leber congenital amaurosis (LCA), Retinitis pigmentosa (RP), Stargardt disease (STGD)

Program Sponsor

Spark Therapeutics Logo

Participating Lab

Prevention Genetics logo
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No cost testing programs made available to providers for their patients.

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