Carnitine, Serum
Use
Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias, fatty acid oxidation disorders, and primary carnitine deficiency using serum specimens. Carnitine and its esters are required for normal energy metabolism, facilitating the import and export of various fatty acids and maintaining CoA ratios. The test serves as a biochemical screening for disorders of the carnitine cycle or related disturbances. More than 100 primary and secondary disorders have been described, with potential causes of abnormal carnitine levels including neuromuscular diseases and prolonged treatment with certain medications.
Special Instructions
Patient's age is required. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen. Increased values may be obtained after carnitine supplementation or meat consumption.
Limitations
Additional testing is required to distinguish between primary and secondary deficiencies of carnitine. Dietary intake, including meat consumption and carnitine supplementation, may cause increased carnitine values, potentially leading to diagnostic confusion. Proper specimen collection and handling are critical to avoid diagnostic errors.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 97182-0
- 14288-5
- 14286-9
- 14282-8
- 30193-7
- 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
0.2 mL
Container
Red top (preferred) or Serum gel (acceptable)
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
Gross hemolysis, Gross lipemia, Gross icterus OK
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 21 days |
| Frozen | 60 days |