Abetalipoproteinemia

Sponsored diagnostic testing programs for Abetalipoproteinemia

Abetalipoproteinemia is a rare inherited lipid disorder that impairs the absorption and transport of dietary fats and fat-soluble vitamins. Affected individuals may develop failure to thrive, neurologic problems, retinopathy, and coagulopathy. Genetic testing confirms the diagnosis and guides management, including dietary and vitamin supplementation.

1 program found for Abetalipoproteinemia

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