Cholestasis Gene Panel, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with monogenic cholestasis. It identifies variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members. The identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for disorders causing primary, monogenic cholestasis.
Special Instructions
The panel is not intended to diagnose multifactorial cholestasis. Risk alleles for multifactorial cholestasis will not be reported unless otherwise requested. Prenatal and maternal cell contamination testing is available at additional charge.
Limitations
This test specifically targets monogenic cholestasis and does not address multifactorial cholestasis unless specifically requested. Its capability to detect disease-causing variants is limited to the 112 genes considered, and any variants outside this gene set will not be evaluated.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For amniotic fluid specimens, if received, an amniotic fluid culture will be performed at an additional charge.