Sponsored diagnostic testing programs for Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)
PBD-ZSD is a group of inherited metabolic disorders caused by defects in peroxisome formation, leading to impaired breakdown of very-long-chain fatty acids and other metabolites. Symptoms may include hypotonia, seizures, liver disease, vision or hearing issues, and developmental delays. Genetic testing confirms the diagnosis.
1 program found for Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)
This program provides no-cost access to genetic testing for U.S. patients with confirmed or suspected PBD-ZSD. The panel evaluates core PEX genes associated with peroxisome biogenesis disorders and supports diagnosis, management, and assessment of disease severity. Providers assess eligibility, coordinate specimen collection and shipping, and review both genetic and reflex biochemical results.
