Testing to support rare disease diagnosis and monitoring
Navigating the path to a rare disease diagnosis can be long and complex. At Mirum, we’re working to make that journey easier—starting with access to critical diagnostic tools.
Scout by Mirum
As part of our ongoing commitment to helping patients with rare diseases experience a brighter future, Mirum Pharmaceuticals is proud to partner with respected laboratories to offer a range of free testing kits through our Scout by Mirum program. We believe helping healthcare professionals and their patients on their journeys is an important step toward diagnosis and treatment.
Once diagnosed, patients living with rare disease may need to undergo additional diagnostic procedures or specialized testing to monitor their disease. Mirum has partnered with key institutions to offer these tests at no cost to patients and prescribers.
Testing process
PreventionGenetics kits can be ordered directly. For all other kits, contact your Regional Account Manager.
Collect sample from patient.
Send sample through FedEx® to the testing facility.
View results on the testing facility portal or via fax message. Note: Test results are typically available in 2 to 4 weeks.
Contact your patient to inform them of the results and develop a treatment plan.
Preventiongenetics genetics panels
Free genetic counseling is also available upon request through Genome Medical.
Cholestasis
Criteria for no-cost testing
Patients should meet ONE of the criteria below:
- Patient is currently cholestatic, or has a history of cholestasis, without an identified cause
- Unexplained chronic liver disease
Patients should meet ALL criteria below:
- Extrahepatic disorders are not a consideration (e.g., biliary atresia, choledochal cyst, large duct PSC)
- TPN cholestasis not suspected as a primary diagnosis
- Patient must live in the United States
Scout by Mirum and related logos are pending trademarks of Mirum Pharmaceuticals, Inc.
Early-Onset Bilateral Cataracts
Criteria for no-cost testing
Patients should meet the criteria below:
- Age of 18 months to 35 years
- Has current or history of idiopathic bilateral cataracts (e.g., not known to be due to infectious causes, trauma, etc.)
- Lives in the United States or Canada
Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)
Criteria for no-cost testing
Patients should meet ONE of the criteria below:
- Diagnosed with PBD-ZSD
- Clinical suspicion of PBD-ZSD (e.g., neurological, vision, hearing, or hepatic deterioration)
Additional testing
Bile Acid Synthesis Disorder (BASD)
2 weeks
Criteria for no-cost testing
Patients must meet ONE of the criteria below:
- Pathogenic variant or VOUS* from a genetic test on one of the following genes: HSD3B7, AKR1D1, AMACR, CYP7B1
- Negative result on genetic test, but patient has GGT ≤150 IU/L and direct bilirubin >1 mg/dL
*Variant of unknown significance.
Scout by Mirum and related logos are pending trademarks of Mirum Pharmaceuticals, Inc.
Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)
2 weeks
Criteria for no-cost testing
Patients must meet ONE of the criteria below:
- Already diagnosed with Zellweger spectrum disorder (ZSD) (e.g., very long chain fatty acids, pathogenic homozygous genetic result on PEX gene)
- – Severe form, often referred to as Zellweger syndrome (ZS)
- – Moderate form, often referred to as neonatal adrenoleukodystrophy (NALD)
- – Mild form, often referred to as infantile refsum disease (IRD)
- EGL genetic result with pathogenic, or likely pathogenic, heterozygous mutation on a PEX gene other than the PEX7 gene
Cerebrotendinous Xanthomatosis (CTX)
Criteria for no-cost testing
Patients must meet at least ONE of the 3 sets of criteria below:
- Current or previous history with either:
- – Idiopathic bilateral cataracts
- – Tendon xanthomas
- Current or previous history with 2 of the 3:
- – Chronic diarrhea
- – Cholestasis/prolonged jaundice
- – Tendon xanthomas
- Abnormal CYP27A1 genetic test result
- Patients not already confirmed genetically will have whole blood cells sent to Molecular Vision Laboratory, Hillsboro, OR, for sequencing of the CYP27A1 gene.
- For patients already on therapy, testing can be performed as clinically indicated at intervals requested by physician and approved by the program sponsor.
Smith-Lemli-Opitz Syndrome (SLOS) Cholesterol and 7/8-DHC Intermediates
Criteria for no-cost testing
Patient has a confirmed diagnosis of SLOS.
Our commitment to privacy
While the program is sponsored by Mirum Pharmaceuticals, all services are performed by independent third parties. This program was created to provide access to genetic testing to patients as a way to help people make more informed decisions about their health.
- While Mirum provides financial support for this program, tests and services are performed by independent third parties
- Healthcare professionals must confirm that patients meet certain criteria to use the program
- Mirum may receive de-identified patient data from this program; however, Mirum does not receive patient-identifiable information. Mirum may use healthcare professional contact information for research purposes
- Genetic testing is available in the United States and Canada
- Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Mirum product
- No patients, healthcare professionals, or payers, including government payers, are billed for this program
Scout by Mirum and related logos are pending trademarks of Mirum Pharmaceuticals, Inc. FedEx and the associated logo are registered trademarks of the Federal Express Corporation.