Fatty Acid Panel, Mitochondrial (C8‑C18), Serum
Also known as: Fatty Acid, Mitochondrial
Use
Quantitative determination of C8–C18 mitochondrial fatty acids in serum aids in the biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation—such as deficiencies of medium‑chain acyl‑CoA dehydrogenase (MCAD), long‑chain 3‑hydroxyacyl‑CoA dehydrogenase, very‑long‑chain acyl‑CoA dehydrogenase, and glutaric acidemia type 2—by detecting characteristic metabolite patterns even in asymptomatic or treated individuals. This profiling is essential for differential diagnosis, guidance of dietary therapy, and reducing morbidity and mortality in affected patients, especially during metabolic stress episodes like fasting or illness.
Special Instructions
For nutritional assessment, the patient should fast overnight (12–24 hours); but for suspected fatty acid oxidation disorders, prolonged fasting is contraindicated—collect prior to next scheduled meal. Patient must avoid alcohol for 24 hours before collection. Preferred specimens and handling instructions: serum (gel) is recommended; acceptable collection in red‑top tube; centrifuge and aliquot serum into plastic vial; volume 0.5 mL; minimum 0.15 mL. Include patient age, treatment status, family history, and tentative diagnosis for proper interpretation.
Limitations
Not provided.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 43675-8
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.15 mL
Container
Serum gel (preferred) or Red‑top Tube; plastic vial for submission
Collection Instructions
Centrifuge and aliquot serum into plastic vial
Patient Preparation
Fasting 12–24 h for nutritional assessment; avoid alcohol 24 h prior; collect before next feeding if FAO disorder suspected