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Acylcarnitine Profile

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Acylcarnitine Profile

Key Information

Lab:

Biochemical

TAT:

10 days

Price:

$200

CPT Code(s):

82017

Test Code:

BACY

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Acylcarnitine Profile

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

Fatty acid oxidation disorders, Organic aciduria

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.

Technical Information

Acylcarnitines are measured using tandem mass spectrometry (MS/MS).

Specimen Requirements

  • Plasma is the accepted sample type for this test. A minimum of 3 mL whole blood collected in a sodium heparin tube.
  • Or, blood can be centrifuged and a minimum of 1 mL plasma removed and sent for analysis.

Transport Instructions

  • Plasma should be frozen after collection and shipped frozen, preferably on dry ice.
  • Whole blood should be shipped at ambient temperature.

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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