Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Biochemical Genetics Laboratory Amino Acids Selective

Amino Acids Selective

Test Description:
Evaluation of select plasma amino acids (Phe, Tyr, Leu, Ile, Val and aIle) is used in monitoring and adjusting dietary treatment in patients with phenylketonuria (PKU) and maple syrup urine disease (MSUD). This amino acid analysis is performed by ion exchange chromatography.

Specimen Requirements:
Draw 2-3 ml blood (fasting or 2-4 hour postprandial) in sodium heparin (green top) tube. Centrifuge and freeze plasma.

Shipping: Ship overnight frozen on dry ice.

Turnaround Time: 3 days

CPT Codes: 80500, 82136

Consent Form: Biochemical Consent [PDF]

Requisition Form: General Test Requisition [PDF]