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
This program offers no-cost genetic testing for individuals in the United States who may have cholestasis or related inherited liver disorders. The test analyzes genes linked to impaired bile flow, chronic liver disease, and syndromic forms of cholestasis. Your provider will help determine if you qualify based on your symptoms or family history.
Who this may help
Could this be right for you or your family?
- 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.
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 this testing program?
This program offers no-cost genetic testing for individuals in the United States who may have cholestasis or an inherited liver disorder. The test helps identify genetic causes of impaired bile flow and chronic liver disease.
Who is eligible for testing?
You may qualify if you currently have cholestasis or have had cholestasis without a known cause, have unexplained chronic liver disease, or have certain symptoms such as chronic diarrhea with tendon xanthomas, neurologic decline, or idiopathic cataracts. First-degree relatives of affected individuals with specific genetic findings may also qualify.
What does the test look for?
The test evaluates genes that can cause inherited cholestasis and PFIC-related disorders. Identifying a genetic cause can help confirm a diagnosis and guide care.
Do I need to pay for the test?
No. The test is provided at no cost as part of this sponsored testing program.
How long do results take?
Results are sent to your provider within 3–4 weeks after the lab receives your sample and required paperwork.
Is genetic counseling available?
Yes. Telehealth genetic counseling with Genome Medical is available at no cost to patients. Counseling is provided by telephone and offers education, support, and assistance with questions about testing and results.
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
See an issue with this program?