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Biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation, including deficiencies of medium-chain acyl-Co-A dehydrogenase, long-chain 3-hydroxyacyl-Co-A dehydrogenase, very long-chain acyl-Co-A dehydrogenase, and glutaric acidemia type 2
This test can be ordered to screen patients with a suspected mitochondrial fatty acid oxidation (FAO) disorder.
See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instruction.
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution