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Cholestasis sponsored testing program
Mirum Pharmaceuticals, in partnership with GeneDx, offers a no-cost genetic testing program for eligible patients with unexplained cholestasis or suspected inherited cholestatic liver disease.
Eligible patients will receive exome testing at no cost through this sponsored testing program.
What is Cholestasis?
Cholestasis occurs when bile, a digestive fluid produced by the liver, cannot flow properly from the liver to the small intestine. This can result from disorders affecting the liver itself (intrahepatic cholestasis) or the bile ducts (extrahepatic cholestasis).
When bile flow is impaired, bile acids and bilirubin accumulate in the liver and bloodstream, leading to liver injury and a range of clinical complications.
Inherited forms of cholestasis can present in infancy, childhood, or adulthood and are associated with numerous rare genetic disorders, including Progressive Familial Intrahepatic Cholestasis (PFIC), Alagille syndrome, and Cerebrotendinous Xanthomatosis (CTX).
Because many genetic liver disorders present with overlapping clinical features, comprehensive genomic testing can help identify the underlying cause and support earlier diagnosis, management, and treatment decisions.
Is your patient eligible?
Patient must meet one of the following criteria:
- Patient is currently cholestatic, or has a history of cholestasis, without an identified cause
- Patient has unexplained chronic liver disease
- Patient has unexplained chronic diarrhea plus tendon xanthomas, neurological deterioration, or idiopathic cataracts
- First degree relative with cholestasis and confirmed variant/s in the following diseases/genes:
- Alagille syndrome: JAG1, NOTCH2
- PFIC: ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19
- CTX: CYP27A1
Patient must meet all of the following criteria:
- Extrahepatic disorders are not a consideration (eg, biliary atresia, choledochal cyst, large duct PSC)
- TPN cholestasis is not suspected as a primary diagnosis;
How does the program work?
To order ExomeDx™ follow the below steps, for rapid testing see the following section.
Eligibility
Eligibility criteria must be met.
Ordering
For portal orders, log in here or follow these steps to create an account. Provide the program code (STP-MIRUM-CHOL) after adding ExomeDx™ (proband, duo, or trio) to your cart. For paper TRF orders, use this specific TRF.
Order a collection kit
This program requires a dedicated collection kit. Use this link to order your collection kit now.
Report
You will receive a comprehensive clinical report with expert interpretation of your patient’s results.
Billing
No claim will be submitted to a patient’s insurance. All tests are covered directly by Mirum Pharmaceuticals.
Genetic counseling services
GeneDx offers comprehensive genetic counseling services with a referral from your healthcare provider.
A genetic counselor is a healthcare professional who can help you better understand the genetic testing process and, after your results are available, explain the findings on the report.
Our services include:
- A consent education video that provides an overview of exome and genome testing, as well as your consenting options.
- Post-test genetic counseling discussion to better understand your results and potential next steps.
- Phone appointments with flexible scheduling options, including evening availability.
- Support and guidance for you and your family, including connecting you with support groups for ongoing assistance.
Forms
Test requisition form
About Mirum Pharmaceuticals
Mirum Pharmaceuticals is a leading rare disease company with a global footprint of approved products and a broad pipeline of investigational medicines. Purpose-built to bring forward breakthrough medicines for people with overlooked conditions, Mirum focuses on rare liver and rare genetic diseases, where it has built deep expertise and strong connections to patient communities.
As part of their ongoing commitment to helping patients with rare diseases experience a brighter future, Mirum Pharmaceuticals is proud to partner with GeneDx to offer a range of no cost genetic testing kits through our Scout by Mirum Program. We believe helping health care professionals and their patients on their journey is an important step to diagnosis and treatment.
