PBD-ZSD Genetic Testing

Laboratory: PreventionGenetics
Genetic testing to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD). PBD-ZSD is 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.

Learn more about genetic testing for PBD-ZSD