Biochemical Genetics Laboratory Amino Acid Analysis
INDICATIONS FOR TESTING:
Amino acid analysis of serum is
indicated in infants presenting with acidosis with an anion gap, seizures,
lethargy, developmental delay, hyperammonemia or failure to thrive. Analysis of
urine is indicated when a renal transport defect is suspected.
METHODOLOGY:
Analysis is performed by Ion Exchange
Chromatography with post column ninhydrin detection. Two wavelengths are
monitored to insure accurate evaluation of secondary amino acids and to check
for purity. Creatinine is used in the expression of urine values. Quantitation
of amino acids is achieved by integrating the area of each peak and comparison
to an internal standard. Calibration is routinely performed with reference
materials. Retention times are used for identification. Amino acid analysis can
be ordered as a screen or a quantitation. Both requests are analyzed in the same
way. With a screen only an interpretation of the results is reported. With a
quantitation, both values and an interpretation are reported. Quantitation of
individual amino acids may also be requested.
TURN-AROUND TIME:
Amino Acid analysis is completed within
a time of 3 working days following specimen receipt. Samples are analyzed daily.
One-day turn-around time is offered on acutely ill infants with a strong
suspicion of a metabolic disorder.
SPECIMEN REQUIREMENTS:
Collection Notes:
Shipping and Handling:
Use overnight delivery if available.
CPT CODE:
FOR MORE INFORMATION, PLEASE CONTACT:
Phone: (727)
767-8689 (Laboratory)
Fax: (727)
767-8514
E-mail: benfords@allkids.org
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