Mucopolysaccharidosis Type III

Sponsored diagnostic testing programs for Mucopolysaccharidosis Type III

Mucopolysaccharidosis type III (Sanfilippo syndrome) is a group of lysosomal storage disorders characterized by progressive neurocognitive decline, behavioral problems, and sleep disturbances, with relatively mild somatic features. Onset is typically in early childhood. Genetic testing defines the subtype and guides prognosis, carrier testing, and counseling.

1 program found for Mucopolysaccharidosis Type III

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