Glycogen Storage Diseases Precision Panel
Glycogen Storage Diseases (GSD) are a group of inherited disorders that result from errors of glycogen metabolism caused by mutations in genes that code for enzymes involved in glycogen synthesis and degradation.
Methylmalonic Aciduria Precision Panel
Methylmalonic Aciduria/Acidemia (MMA) is an autosomal recessive disorder of the amino acid metabolism with a defect localized in the conversion of methylmalonyl-coenzyme A (CoA) into succinyl-CoA.
Organic Acidemias/Acidurias Precision Panel
Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation.
Congenital Disorders of Glycosylation Precision Panel
Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity.
Lysosomal Storage Diseases Precision Panel
Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes.