Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003.
Determination of plasma amino acid levels has become a key piece of information in the diagnosis and clinical management of a group of metabolic genetic disorders. Appropriate laboratory methodologies have been published for amino acid analysis, yet there is a need for direction for the laboratory in performing this testing. The following guidelines were generated by a working group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Based upon a body of knowledge and professional experience, these guidelines and standards are to be the benchmark for performance of amino acid analysis for clinical interpretation.
Grier
Robert E
RE
American College of Medical Genetics, Bethesda, MD 20814, USA.
Gahl
William A
WA
Cowan
Tina
T
Bernardini
Isa
I
McDowell
Geraldine A
GA
Rinaldo
Piero
P
D000596:Amino Acids / Q000097:blood*; D019985:Benchmarking; D002852:Chromatography, Ion Exchange; D017408:Guidelines as Topic; D006801:Humans; D007753:Laboratories / Q000592:standards*; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics*
D000596:Amino Acids