Fatty Acid Profile, Mitochondrial (C8-C18), Serum
Use
The test is used for the biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation. This includes diagnosing deficiencies in 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. It serves as a screening tool for patients suspected of having mitochondrial fatty acid oxidation (FAO) disorders, which lead to conditions like hypoketotic hypoglycemia, liver disease, skeletal myopathy, and cardiomyopathy when the body is stressed or fasting.
Special Instructions
Patient's age is required. Include information regarding treatment, family history, and tentative diagnosis. Fasting requirements are specific; patients must not consume alcohol 24 hours before specimen collection. For those with suspected FAO disorders, prolonged fasting is contraindicated. Collect specimen as close to the next meal feeding.
Limitations
Improper specimen collection and handling, inappropriate test selection, and interfering substances may cause diagnostic confusion. To avoid acute metabolic decompensation, patients suspected of having a FAO disorder should not fast.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 43675-8
- 35145-2
- 35147-8
- 35146-0
- 35151-0
- 35150-2
- 35148-6
- 35158-5
- 35157-7
- 35154-4
- 35162-7
- 35161-9
- 35165-0
- 35166-8
- 35149-4
- 59462-2
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.15 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Patient Preparation
Fasting for 12 hours is required for nutritional assessment. For FAO disorder suspects, prolonged fasting is contraindicated. Must not consume alcohol 24 hours prior.
Causes for Rejection
Gross lipemia.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 72 hours |
| Frozen | 92 days |