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
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Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. ...

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