Acylcarnitine profile

Test Information

Acylcarnitines are important intermediates in fatty acid oxidation. Elevations in specific acylcarnitines can be diagnostic for several fatty acid oxidation disorders and organic acidurias.

Turnaround Time

5 days

CPT Code(s)

82017

Cost

$200

Clinical Information

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

Tandem mass spectrometry

Specimen Requirements

3 ml of whole blood in a green top, sodium heparin tube OR 1 ml of plasma

Transport Instructions

Samples can be shipped at room temperature overnight or the plasma can be removed and shipped frozen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Analytes and Biomarkers, Biochemical Testing, Newborn Screening Follow-Up
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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