Mitochondrial Panels target genes associated with a range of mitochondrial disorders affecting energy production, fatty acid metabolism, membrane transport, iron-sulfur cluster biogenesis, and creatinine metabolism.
Disorders of fatty acid, ketone and energy metabolism (eg: Fatty acid oxidation defects such as ACADM, ACADS and VLCAD deficiency, Fumarase deficiency, Mitochondrial DNA depletion syndromes, Leigh syndrome, Mitochondrial complex deficiencies)
131 genes
MTDT_003
Mitochondrial membrane transport disorders (eg: HHH syndrome, Carnitine-acylcarnitine translocase deficiency)
8 genes
MTDT_004
Disorders of creatine metabolism
3 genes
MTDT_005
Other mitochondrial disorders (eg: Perrault syndrome, PEPCK deficiency)
