Biochemical Genetics Profile

Test description 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 are typically complementary to each other in determining a diagnosis.
Indications 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.
Methodology 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.
Associated Tests This panel includes an acylcarnitine profile, plasma amino acids, free and total carnitine and urine organic acids. Each of these tests may also be ordered separately.
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 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.
Turnaround time 7-10 days for the completion of all tests. Separate reports will be generated and sent out as each test is completed
CPT Codes Amino Acids: 82139 (x13)
Organic Acids: 83919 (x13)
Acylcarnitine Profile: 82017 (x9)
Carnitine: 82379
Cost $736 for panel
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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