Cholestasis Panel
Use
The Cholestasis Panel is designed for individuals who exhibit features suggestive of cholestasis or have a clinical or suspected diagnosis of cholestasis. It is also suited for patients with progressive intrahepatic cholestasis or syndromic cholestasis in infancy. The test aims to provide insights into genetic causes associated with cholestasis by analyzing 70 genes related to this condition, assisting healthcare providers in making informed diagnostic and management decisions.
Special Instructions
STAT testing options are available, allowing for expedited results within 7 - 16 days when urgent cases are identified. Institutional pricing is available by signing in, and the test can include exome-wide CNV analysis as an add-on for an additional cost of $250. For ordering, a completed online order or paper test requisition form with labeled specimens is required.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration, although it is conducted following CAP and CLIA regulations. The test is performed on platforms capable of detecting copy number variations (CNVs) and sequence variants; however, the accuracy of CNV detection can be influenced by the quality and type of the specimen. Additionally, the test may not detect all genomic alterations associated with cholestasis, and results should be interpreted in conjunction with clinical findings and patient history.
New York Approved
Methodology
NGS (CGP)
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