Mucolipidosis Type III Gamma

Sponsored diagnostic testing programs for Mucolipidosis Type III Gamma

Mucolipidosis type III gamma is a slowly progressive lysosomal storage disorder featuring joint stiffness, short stature, coarse facial features, and mild to moderate skeletal abnormalities. Many individuals have mild cardiac valve disease or carpal tunnel syndrome. Genetic testing confirms the diagnosis and supports surveillance and symptomatic management.

1 program found for Mucolipidosis Type III Gamma

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