Acylcarnitines, Quantitative, Serum
Use
The test is significant for diagnosing fatty acid oxidation disorders and various organic acidurias by analyzing acylcarnitine levels in serum. These disorders are related to the body's ability to metabolize fatty acids, which is crucial during fasting states when glucose is depleted. The test helps in identifying enzyme deficiencies that lead to an accumulation of specific acyl-CoAs, which results in disorders that can manifest as hypoglycemia, liver disease, cardiomyopathy, and potentially life-threatening metabolic decompensations. It is also useful for monitoring treatment efficacy in patients with these disorders.
Special Instructions
Patient preparation includes collecting the specimen just before a scheduled meal. If not ordering electronically, a Biochemical Genetics Test Request form must be completed and sent with the specimen.
Limitations
The test results need confirmatory testing as the acylcarnitine profile can suggest multiple conditions. It cannot provide a definitive diagnosis alone but plays a role in identifying over 20 inborn errors of metabolism. The test is not suitable for diagnosing conditions outside fatty acid oxidation and organic acidurias spectrum and requires additional genetic counseling for family implications.
New York Approved
Methodology
Mass Spectrometry (Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS))
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.1 mL
Minimum Volume
0.04 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial. Preferred collection container is serum gel tube, red top is acceptable.
Patient Preparation
Collect specimen just before scheduled meal or feeding.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 21 days |
| Frozen | 60 days |