Congenital hepatic fibrosis gene panel

Congenital Hepatic Fibrosis Gene Panel

Test Name: Congenital Hepatic Fibrosis Gene Panel

Sample Required: Blood / DNA Sample

What is this test?
The Congenital Hepatic Fibrosis (CHF) Gene Panel is a genetic test used to identify mutations associated with congenital hepatic fibrosis, a rare inherited liver disorder characterized by liver fibrosis, portal hypertension, and abnormalities of the bile ducts. This test helps confirm diagnosis and supports genetic counseling.

Why is this test done?

• Diagnose congenital hepatic fibrosis and related disorders
• Identify disease-causing genetic mutations
• Evaluate individuals with unexplained liver fibrosis
• Assist in family screening and genetic counseling
• Support treatment planning and long-term management

Who should consider this test?

• Individuals with suspected congenital hepatic fibrosis
• Patients with liver fibrosis of unknown cause
• Those with a family history of inherited liver diseases
• Children or adults with signs of portal hypertension or associated kidney disorders

Symptoms may include:

• Enlarged liver or spleen
• Portal hypertension
• Abdominal swelling
• Gastrointestinal bleeding
• Recurrent liver-related complications

Benefits of the test:
✔ Accurate genetic diagnosis
✔ Early detection and risk assessment
✔ Family screening support
✔ Personalized medical management
✔ Informed reproductive planning

Advanced BioCare Laboratories
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