Cholestasis Sequencing Panel
No-cost 143-gene panel evaluating key cholestasis genes, including ABCB11, ABCB4, ATP8B1, TJP2, and NR1H4, to help identify inherited causes of impaired bile flow.
Accessed through the Scout Sponsored Testing Program•Sponsored by Mirum Pharmaceuticals•Performed by Prevention Genetics
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This program provides complimentary genetic testing for U.S. patients with current or historical cholestasis, unexplained chronic liver disease, or clinical features suggestive of inherited bile acid or hepatobiliary disorders. The panel includes key cholestasis and PFIC-related genes and supports diagnosis, management, and familial variant clarification. Eligibility excludes extrahepatic causes and TPN-associated cholestasis.
When to consider this test
Patient selection
- Patient must reside in the United States.
- Patient meets one of the following:
- Cholestasis (current or historical) without identified etiology.
- Unexplained chronic liver disease.
- Unexplained chronic diarrhea with any of: tendon xanthomas, neurologic deterioration, idiopathic cataracts.
- First-degree relative of a proband with cholestasis and a known pathogenic or likely pathogenic variant in:
- JAG1, NOTCH2 (Alagille)
- ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19 (PFIC spectrum)
- CYP27A1 (CTX)
- Patient must also meet all of the following:
- No evidence of extrahepatic cholestatic disorders (biliary atresia, choledochal cyst, large duct PSC).
- TPN cholestasis is not the suspected primary diagnosis.
Workflow
How to use this program
- 1
Confirm Eligibility
Verify the patient meets program criteria and review the purpose of the test before proceeding.
- 2
Order, Collect, and Ship
Order the test, complete the TRF, collect and label the specimen with two identifiers, and ship per kit instructions. Whole blood is stable 8 days; frozen blood ships on dry ice. Buccal samples require careful collection.
- 3
Review Results
Results return in 3–4 weeks after receipt of the specimen and paperwork. Review findings with the patient and incorporate them into care.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
What does this program provide?
The program offers complimentary genetic testing for U.S. patients with cholestasis, unexplained liver disease, or clinical features suggestive of inherited cholestasis disorders. Testing supports diagnosis, management, and evaluation of familial variants.
Which patients qualify?
Patients must live in the U.S. and meet at least one program criterion: current or historical cholestasis without known cause, unexplained chronic liver disease, or chronic diarrhea with tendon xanthomas, neurologic decline, or idiopathic cataracts. First-degree relatives of probands with confirmed variants in JAG1, NOTCH2, ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19, or CYP27A1 may also qualify. Extrahepatic causes and TPN-associated cholestasis are excluded.
Which genes are included in the panel?
The test evaluates 143 genes, including key cholestasis and PFIC-related genes such as ABCB11, ABCB4, ATP8B1, TJP2, and NR1H4. The full panel covers transport defects, bile acid synthesis disorders, hepatobiliary syndromes, and metabolic liver disorders.
How do I order the test?
Order the test using the PreventionGenetics test requisition form. Kits containing buccal collection supplies, TRF, and shipping labels may be requested online.
What specimen types are accepted?
Whole blood or buccal specimens are accepted. Whole blood is stable up to 8 days refrigerated or at room temperature; frozen blood is stable up to one month and should be shipped frozen on dry ice. Buccal specimens must be collected carefully to avoid contamination.
What is the turnaround time?
Results return 3–4 weeks after the specimen and completed paperwork are received.
Is genetic counseling available for patients?
Yes. Genome Medical provides no-cost telehealth genetic counseling for patients and families through this sponsored program.
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