Program Details
Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)
Blood 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 atypical bile acid profile. The 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:
- Already diagnosed with Zellweger spectrum disorder (ZSD) (eg, 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
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