Amino Acid Analysis (CSF, Plasma, Urine)

Test Information

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.

Turnaround Time

5 days

CPT Code(s)

82139

Cost

$270

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).

Specimen Requirements

For most amino acids disorders, plasma is the preferred sample type. For plasma samples, at least 1ml is required. 3 ml of whole blood in a green top, sodium heparin tube can also be sent. Please be aware that 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. Urine samples should be at least 10 ml of a random catch. 24-hour collection is preferred. Amino acid analysis may also be performed on cerebral spinal fluid (CSF).

Transport Instructions

Samples plasma, CSF, or urine must be frozen, preferably on dry ice. Samples must be received by the lab the next day by overnight delivery services or courier. Blood should be sent at ambient temperature. Do not freeze whole blood.

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

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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