Program Details
Bile Acid Synthesis Disorder (BASD)
Urine Collection Kit
Mirum Pharmaceuticals, Inc. is invested in the well-being of patients with cholestasis and has partnered with Cincinnati Children’s Hospital Medical Center to offer mass spectrometry testing of the urinary bile acid profile. This test is easy to use and detects the presence of atypical bile acids and intermediates, which can be hepatotoxic and associated with cholestasis and liver disease.
Free of charge: Provided at NO COST to patients who qualify
Results are available in approximately
2 weeks
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
GGT=gamma-glutamyl transferase.
*Variant of unknown significance.
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