Program Details

Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)

In partnership with PreventionGenetics, Mirum Pharmaceuticals offers a no-cost genetic testing program for qualifying patients to help identify PBD-ZSD, a rare autosomal recessive disorder caused by mutations in one of 13 PEX genes and characterized by an impaired peroxisome assembly, leading to multiple enzyme deficiencies.

Free of charge: Provided at NO COST to patients who qualify
Results normally in 3 weeks
Criteria for no-cost testing

Patients should meet ONE of the criteria below:

  • Diagnosed with PBD-ZSD
  • Clinical suspicion of PBD-ZSD (eg, neurological, vision, hearing, or hepatic deterioration)
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