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
The Scout program, sponsored by Mirum Pharmaceuticals and performed by Prevention Genetics, provides a no-cost 143-gene sequencing panel for the diagnostic workup of cholestasis and related inherited hepatobiliary conditions. The panel covers key genes associated with PFIC subtypes (ABCB11, ABCB4, ATP8B1, NR1H4, TJP2, and others), Alagille syndrome (JAG1, NOTCH2), cerebrotendinous xanthomatosis (CYP27A1), and additional cholestasis-related loci, supporting diagnosis, management planning, and familial variant clarification. Ordering carries no purchase or prescribing obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Meets at least one of the following:
- Currently cholestatic, or has a history of cholestasis, without an identified cause
- Unexplained chronic liver disease
- Unexplained chronic diarrhea plus tendon xanthomas, neurological deterioration, or idiopathic cataracts
- First-degree relative with cholestasis and confirmed variant(s) in one of the following:
- Alagille syndrome: JAG1, NOTCH2
- PFIC: ABCB11, ABCB4, ATP8B1, KIF12, MYO5B, NR1H4, PLEC, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19
- CTX: CYP27A1
- All of the following are also true:
- Extrahepatic disorders are not a consideration (e.g., biliary atresia, choledochal cyst, large-duct PSC)
- TPN cholestasis is not suspected as a primary diagnosis
- Patient lives in the U.S. or Canada
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
Which patients are appropriate for the Scout cholestasis sponsored testing program?
The Scout program is designed for U.S.-based patients with current or historical cholestasis of unexplained etiology, unexplained chronic liver disease, or clinical features suggestive of inherited bile acid or hepatobiliary disorders such as unexplained chronic diarrhea with tendon xanthomas, neurological deterioration, or idiopathic cataracts. First-degree relatives of individuals with confirmed variants in PFIC-related genes, Alagille syndrome genes, or CYP27A1 are also appropriate. Patients with extrahepatic causes such as biliary atresia, choledochal cyst, or large duct PSC, and those with suspected TPN-associated cholestasis as a primary diagnosis, are excluded.
What does the Scout cholestasis sequencing panel cover and what methodology is used?
The Scout Cholestasis Sequencing Panel analyzes 143 genes via next-generation sequencing (NGS). Coverage includes genes associated with PFIC subtypes (ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19), Alagille syndrome (JAG1, NOTCH2), cerebrotendinous xanthomatosis (CYP27A1), and additional cholestasis and syndromic liver disease loci. The panel supports diagnosis, treatment planning, and familial variant clarification.
What specimens are accepted and how are kits obtained for the Scout cholestasis panel?
The Scout program accepts whole blood, saliva, or buccal swab specimens. Sample collection kits are provided through Prevention Genetics and can be ordered directly through their platform. Once the specimen is collected, it is shipped to Prevention Genetics in Marshfield, Wisconsin, for processing.
What is the turnaround time for the Scout cholestasis genetic test?
The turnaround time for the Scout Cholestasis Sequencing Panel is 2 to 3 weeks from specimen receipt at Prevention Genetics. Results are reported back to the ordering clinician for review and patient communication.
Is there any cost or prescribing obligation when ordering through the Scout cholestasis program?
There is no cost to the patient or the ordering provider. Mirum Pharmaceuticals sponsors the Scout program in full, covering the entire cost of the 143-gene cholestasis panel. Ordering through the program carries no purchase or prescribing obligation of any kind. The program exists to support diagnostic clarity for patients with suspected inherited cholestatic and hepatobiliary disorders.
Is genetic counseling support available through the Scout cholestasis testing program?
Prevention Genetics provides expert support throughout the testing process, including assistance with order placement, specimen logistics, and results interpretation. The Scout program's support team can help clinicians and patients navigate findings and next steps. Clinicians may also integrate their own genetic counseling resources as appropriate for their practice.
Which patients are eligible for Scout Cholestasis genetic testing?
Patients may qualify for Scout if they meet the program's eligibility criteria:
- 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.
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