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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
Cholestasis happens when bile cannot flow properly from the liver, and sometimes the cause is genetic. If you or your child has been dealing with unexplained cholestasis, chronic liver disease, or related symptoms, the Scout program can help you get closer to a diagnosis by testing 143 genes linked to these conditions, all at no cost to you. The program is sponsored by Mirum Pharmaceuticals and performed by Prevention Genetics, so there is nothing for you to pay out of pocket. Talk to your doctor about whether this testing could be a good next step for your family.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- At least one of the following describes the patient:
- Currently has, or has had, cholestasis (a bile-flow problem) that doctors have not been able to explain
- Long-lasting liver disease with no known cause
- Long-lasting diarrhea with no known cause, plus one of: fatty tendon growths (xanthomas), worsening brain/nerve problems, or cataracts with no clear cause
- A close blood relative with cholestasis and a confirmed genetic change linked to Alagille syndrome, PFIC, or CTX
- All of these are also true:
- The cholestasis is not thought to be caused by another condition such as biliary atresia, a choledochal cyst, or large-duct PSC
- The cholestasis is not thought to be mainly caused by IV (tube) feeding (TPN)
- The patient lives in the U.S. or Canada
What to expect
How the process works
- 1
Check Eligibility
Your provider will confirm whether you meet the criteria and explain the purpose of testing.
- 2
Provide Your Sample
Your provider orders the test, collects the required specimen using kit instructions, completes the paperwork, labels the sample with two identifiers, and ships it to the lab following the included shipping guidelines.
- 3
Get Your Results
Results return in 3–4 weeks, and your provider will review the findings and next steps with you.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
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
Common questions about this program
What is the Scout genetic testing program for cholestasis?
The Scout program is a sponsored genetic testing program designed for people in the United States who have unexplained cholestasis, chronic liver disease, or symptoms that may point to an inherited bile flow disorder. It uses a comprehensive panel that analyzes 143 genes associated with cholestasis and related conditions. The test is ordered by your healthcare provider and can help identify a genetic cause behind your symptoms, which may guide treatment decisions.
Is the Scout cholestasis genetic test really free, and who pays for it?
Yes, the Scout cholestasis genetic test is completely free to you. Mirum Pharmaceuticals sponsors the program and covers the full cost of testing, so you will not receive a bill, a copay, or any other charge. Your provider simply orders the test, and the sponsor takes care of the rest.
What kind of sample is needed for the Scout cholestasis test?
The Scout cholestasis test can be done using a whole blood sample, a saliva sample, or a buccal swab, which is a gentle cheek swab. Your healthcare provider will let you know which option works best for you or your child. Collection kits are provided as part of the program, so there is nothing extra you need to arrange.
How long does it take to get results from the Scout cholestasis genetic test?
Results from the Scout cholestasis genetic test are typically ready in about 2 to 3 weeks after your sample arrives at the laboratory. Your healthcare provider will receive the results and go over them with you, explaining what the findings mean for your care or your child's care.
Can genetic testing help find the cause of my child's cholestasis?
Genetic testing through the Scout program can be a valuable step toward finding the cause of your child's cholestasis. The test looks at 143 genes linked to impaired bile flow, progressive familial intrahepatic cholestasis (PFIC), and other inherited liver and bile acid disorders. Identifying a genetic cause can help your child's doctor make more informed decisions about treatment and long-term management. Ask your child's doctor whether the Scout program might be right for your family.
Does the Scout program offer genetic counseling for cholestasis test results?
The Scout program is supported by a team of experts at Prevention Genetics who can help at every step, from exploring testing options to understanding your results. Your healthcare provider can work with you to review your results and discuss what they mean for you and your family. If you have questions at any point, the support team is available to help.
Who qualifies for Scout Cholestasis genetic testing?
Patients may qualify for Scout if they meet the program's eligibility criteria:
- You must live in the United States.
- You may qualify if you currently have cholestasis or have a history of cholestasis without a known cause.
- You may qualify with unexplained chronic liver disease.
- You may qualify if you have unexplained chronic diarrhea plus tendon xanthomas, neurologic decline, or idiopathic cataracts.
- You may also qualify if you are a first-degree relative of someone with cholestasis who carries a confirmed variant in genes linked to:
- Alagille syndrome: JAG1, NOTCH2
- PFIC: ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19
- Cerebrotendinous Xanthomatosis (CTX): CYP27A1
- You are not eligible if extrahepatic causes (e.g., biliary atresia, choledochal cyst, large duct PSC) explain the presentation.
- You are not eligible if TPN cholestasis is suspected as the primary diagnosis.
Questions to ask your doctor about Cholestasis Sequencing Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
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