Cholestasis Sponsored Testing Program
Use
This sponsored testing program aims to identify genetic causes of cholestasis in patients who meet specific clinical criteria. By sequencing 143 genes associated with cholestasis and related disorders, it helps in diagnosing unexplained chronic liver diseases, offering insights into appropriate management and treatment strategies. Patients who have idiopathic cholestasis or family history indicating genetic predisposition can benefit from this diagnostic tool. It supports the identification of underlying genetic conditions, enabling personalized patient care.
Special Instructions
This is a no-charge genetic testing program for eligible patients within the United States. Eligibility criteria include unexplained cholestasis or chronic liver disease without an identified cause, among others. Patient must not have extrahepatic disorders or TPN cholestasis as a primary diagnosis. Specimens are collected using whole blood or buccal swabs. Healthcare providers must order the test and include informed consent documentation. Genetic counseling is available through Genome Medical as part of the program.
Limitations
The test is restricted to the listed 143 genes and may not cover other potential genetic causes of cholestasis. DNA from buccal swabs may be contaminated, which could impact test quality and require additional specimens. This test has not been cleared or approved by the FDA, which may limit its clinical application in certain scenarios. Results should be interpreted in the context of complete clinical evaluation and family history. Potential for changes in gene panel composition over time as new genetic knowledge evolves.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml for small infants
Container
EDTA (purple top) or ACD (yellow top) tube
Storage Instructions
At room temperature or refrigerated for up to 8 days; fresh preferred. If frozen, stable for up to 1 month.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | 1 month |