Alagille Syndrome

Sponsored diagnostic testing programs for Alagille Syndrome

Alagille syndrome is a multisystem genetic disorder most commonly affecting the liver, heart, skeleton, eyes, and kidneys. It typically presents with neonatal cholestasis, congenital heart defects, characteristic facial features, and posterior embryotoxon. Genetic testing confirms the diagnosis and informs surveillance and family counseling.

2 programs found for Alagille Syndrome

Programs

2 programs
CholestasisAlagille SyndromeFamilial Intrahepatic Cholestasis (PFIC)

Cholestasis Genetic Testing

Sponsored by
Ipsen

Ipsen-Sponsored Cholestasis Panel (PEDS)

This program offers no-charge comprehensive genetic testing for patients in the US or Canada with suspected inherited cholestatic liver disease. The Invitae Cholestasis Panel evaluates key genes associated with PFIC, ALGS, and other cholestatic disorders. Clinicians receive actionable results, and patients are eligible for complimentary post-test genetic counseling.

Hepatology
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Performing labInvitae | Labcorp
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