Muscular Dystrophy-Dystroglycanopathy

Sponsored diagnostic testing programs for Muscular Dystrophy-Dystroglycanopathy

Muscular dystrophy-dystroglycanopathies are a group of disorders involving abnormal glycosylation of alpha-dystroglycan, leading to muscle weakness, elevated CK, and in some forms brain and eye malformations. Disease severity ranges from congenital muscular dystrophy with structural brain defects to milder limb-girdle presentations. Genetic testing clarifies the subtype and informs prognosis and management.

1 program found for Muscular Dystrophy-Dystroglycanopathy

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