Familial Intrahepatic Cholestasis (PFIC)

Sponsored diagnostic testing programs for Familial Intrahepatic Cholestasis (PFIC)

Familial intrahepatic cholestasis (PFIC) refers to a group of rare genetic disorders that impair bile formation and flow, leading to chronic cholestasis. PFIC often begins in infancy with jaundice, pruritus, and growth concerns, though some gene variants can present later in life. Without appropriate management, PFIC can progress to liver damage and may lead to liver failure or the need for transplantation.

1 program found for Familial Intrahepatic Cholestasis (PFIC)

Programs

1 program

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