Acylcarnitines, Quantitative, Plasma
Use
Acylcarnitine analysis is crucial for diagnosing disorders of fatty acid oxidation and several organic acidurias. These conditions result in specific acyl-CoA accumulations, detectable via tandem mass spectrometry, essential for early diagnosis and treatment. Notably, more than 20 metabolic errors, including FAO disorders and organic acidurias, are identifiable. Clinical manifestations include hypoketotic hypoglycemia, liver issues, cardiomyopathy, and potential sudden death. Early diagnosis allows for dietary and therapeutic interventions, alleviating symptom severity and providing genetic counseling options.
Special Instructions
Patient preparation is vital; collect specimens before meals. Ensure comprehensive information accompanies the submission, including patient age, familial medical history, clinical condition, diet, and medication. If not ordered electronically, use the Biochemical Genetics Test Request form.
Limitations
While acylcarnitine profiles suggest conditions, they are not definitive without confirmatory testing, as profiles might indicate multiple disorders. Profiles cannot replace clinical judgment or additional genetic and biochemical tests necessary for conclusive diagnosis. Environmental and preanalytical conditions may affect results.
New York Approved
Methodology
Mass Spectrometry (FIA-MS/MS)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.1 mL
Minimum Volume
0.04 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot plasma into a plastic vial. Collect just before meals.
Patient Preparation
Collect specimen just before scheduled meal or feeding.
Causes for Rejection
Gross hemolysis: OK, Gross lipemia: OK, Gross icterus: OK
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 64 days |
| Frozen | 92 days |