…Program Overview No-cost genetic testing for 13 genes associated with peroxisomal biogenesis disorders is being offered for qualifying US-resident patients through a program sponsored by Mirum Pharmaceuticals. The genetic test…

…after further laboratory testing. Mirum sponsored reflex testing will include: Reanalysis of ABCD1 gene at PreventionGenetics for verification Panel testing with whole exome sequencing (WES) will be performed…

…genetic tests and panels on our genetic test menu with many options to reflex to either exome or genome based on the original test ordered. Newborn Screening PDF CMA Amino Acid & Urea Cycle Disorders Comprehensive Inheritied Metabolic…

…, and Lipoprotein Hypoglycemia Leber Hereditary Optic Neuropath Lysosomal Disorders Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Metal Metabolism or Transport Disorders Mitochondrial DNA Mitochondrial Disorders Neonatal and Fetal Concerns Organic Acidemia/Acidurias Peroxisomal Disorders Phenotype Based Panels - Metabolic & Mitochon Porphyria…

…Neurologic Disorders Our comprehensive neurology genetic test menu offers genetic tests and panels for various neurologic disorders and has been meticulously curated by our expert PhD team. PreventionGenetics offers genetic testing…

…disorders.  PreventionGenetics' Fetal Concerns Panel includes sequencing and copy number variation (CNV) detction for 40 genes.The 40 gene panel of single gene disorders was developed under collaboration between dual-certified molecular…

…others): Fetal Akinesia/Lethal Multiple Pterygium syndrome, Smith-Lemli- Opitz syndrome (SLOS), Noonan Spectrum Disorders, Peroxisomal Disorders, Glycogen Storage Disorders, and Long QT Syndrome. If the Fetal Concerns Sequencing Panel…