Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel
Use
This panel is targeted at individuals with relevant features or a clinical or suspected diagnosis of Progressive Familial Intrahepatic Cholestasis (PFIC) or Alagille syndrome. It's particularly aimed at those with cholestasis onset in infancy or early childhood. This genetic testing helps in confirming the diagnosis and guiding clinical management and familial counseling.
Special Instructions
The test requires a blood, DNA, buccal, saliva, or tissue specimen for the Exome Platform, and a blood, DNA specimen for the Genome Platform. It is New York approved and offers an option for STAT processing with turnaround times ranging from 7 to 16 days if expedited.
Limitations
This test has not been approved or cleared by the US Food and Drug Administration. The test results should be interpreted in the context of clinical information provided and additional diagnostics, given that genetic variants can be subject to different interpretations about pathogenicity.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided