Acylcarnitine Profile

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.
CPT Codes 82017
Cost $200
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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