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
Falecia Thomas, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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