Amino Acids - Quantitative

Test description Amino acids are components of all of the body's proteins, both enzymatic and nonenzymatic. Any abnormality in the metabolism of amino acids may lead to intellectual disabilities or other problems. Treatments are available for some amino acid disorders which can help prevent the disabilities and other symptoms.
Indications Disturbances of amino acid metabolism may be suspected in infants or children who have feeding abnormalities, growth failure, development failure, seizures, unexplained acidosis (uncommon), elevated blood ammonia
Methodology Quantitative analysis will be done by ion-exchange high performance liquid chromatography (Beckman 6300 system).
Associated Tests Plasma amino acid analysis is also part of our Biochemical Genetics Profile.
Specimen Requirements For most amino acids disorders, plasma is the preferred tissue because urine amino acid values are based on creatinine concentration. As the concentration of urine varies greatly, levels can be falsely elevated or lowered . In cases of suspected transport defects, such as cystinuria, urine is preferred. Amino acid analysis; however, may be performed on any fluid in the body (urine, plasma or serum, spinal fluid, amniotic fluid). For plasma samples, at least 1ml is required. Urine samples should be at least 10 ml of a random catch. 24-hour collection is preferred.
Transport Samples (plasma, serum, or urine) must be frozen, preferably on dry ice. Samples must be received within 24 hours by overnight delivery services or courier. Do not freeze whole blood.
Turnaround time 5 days
CPT Codes 82139 (x13)
Cost $270
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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