Amino Acid Quantitative Analysis (CSF, Plasma/Serum, 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 within 24 hours 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
Kellie Walden, MS, CGC

Analyte Analysis, Biochemical Testing, Newborn Screening Follow-Up
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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