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
Meet the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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