|Test description||Acylcarnitines are important intermediates in fatty acid oxidation. Elevations in specific acylcarnitines can be diagnostic for several fatty acid oxidation disorders and organic acidurias.|
|Indications||Symptoms of fatty acid oxidation disorders and organic acidurias can have similar symptoms which may include hypoglycemia, acidosis, hypotonia, seizures, and various developmental abnormalities among other things.|
|Methodology||Analysis will be done by tandem mass spectrometry (MS-MS).|
|Associated Tests||The acylcarnitine profile is also part of our Biochemical Genetics Profile.|
|Specimen Requirements||Sodium heparin plasma|
|Transport||Samples can be shipped at room temperature overnight or the plasma can be removed and shipped frozen.|
|Turnaround time||Analysis will be complete within five days.|
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.