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
Specimen Type
Blood
Container
Gold Top Tube
Collection Instructions
Specimen Type: Serum Patient Preparation: 1. For nutritional assessment, patient should fast overnight (12-14 hours); for patients with a suspected fatty acid oxidation disorder, collect prior to next feeding as fasting is contraindicated. 2. Patient must not consume any alcohol for 24 hours before the specimen is collected. Collection Container/Tube: Preferred: Red top Acceptable: Serum gel Submission Container/Tube: Plastic vial Specimen Volume: 0.5 mL Collection Instructions: Centrifuge and aliquot serum into plastic vial. Specimen Minimum Volume: 0.15 mL Specimen Stability Information:
Specimen Type
Temperature
Time
Special Container
Serum
Frozen (preferred)
92 days
Refrigerated
72 hours
Transport Instructions
Specimen Stability
Methodology
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution
