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Alagille Syndrome and Progressive Familial Intrahepatic Cholestasis Panel

New York
Approved


Genes

ABCB11, ABCB4, ATP8B1, JAG1, NOTCH2, TJP2

Conditions

  • Benign Recurrent Intrahepatic Cholestasis (BRIC)
  • Hadju-Cheney Syndrome
  • Alagille syndrome
  • Progressive Familial Intrahepatic Cholestasis (PFIC)

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Identification of individuals with milder manifestations
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Evaluation of family members as possible donors for liver transplantation
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially regarding recurrence risk and prenatal diagnosis

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TG20

CPT Codes*

81406x1; 81407x1; 81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.