Biochemical Genetics Profile

Test Information

This panel provides a comprehensive biochemical evaluation covering more than 50 different disorders of amino acid metabolism, organic acid metabolism, and fatty acid oxidation. The four tests included in this panel are an acylcarnitine profile, plasma amino acids, free and total carnitine and urine organic acids. Each of these tests may also be ordered separately. This panel may also be useful for follow-up of a positive newborn screen.The four tests included are typically complementary to each other in determining a diagnosis

Turnaround Time

7-10 days

CPT Code(s)

Amino Acids: 82139; Organic Acids: 83919; Acylcarnitine Profile: 82017; Carnitine: 82379




Children with symptoms suggestive of an inborn error of metabolism may present with failure to thrive, vomiting, lethargy, coma, acidosis, seizures or other metabolic findings such as acidosis or hyperammonemia. This panel may also be useful for follow-up of a positive newborn screen.


Amino Acids: Quantitative analysis will be done by ion-exchange high performance liquid chromatography (Biochrom 30). Acylcarnitine Profile & Carnitine analysis: Analysis will be done by tandem mass spectrometry (MS-MS).Organic Acids: Analysis will be done by gas chromatography/mass spectroscopy (GC/MS) with identification of elevated and/or abnormal organic acids.

Specimen Requirements

This panel requires both a plasma and urine specimen. The urine should be at least 10 ml of random catch. At least 3-5 ml of whole blood in a sodium heparin (green top) tube or at least 1 ml of plasma is needed.

Transport Instructions

Whole blood should be shipped overnight. Do NOT freeze whole blood. OR The sample can be spun down, plasma removed and frozen on dry ice. The urine sample must be frozen, preferably on dry ice. If the sample can be delivered the same day, it may be sent cold or at room temperature. Samples must be sent frozen by overnight delivery services or courier.

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

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