TY - JOUR
T1 - Laboratory analysis of acylcarnitines, 2020 update
T2 - a technical standard of the American College of Medical Genetics and Genomics (ACMG)
AU - ACMG Laboratory Quality Assurance Committee
AU - Miller, Marcus J.
AU - Cusmano-Ozog, Kristina
AU - Oglesbee, Devin
AU - Young, Sarah
N1 - Publisher Copyright:
© 2020, American College of Medical Genetics and Genomics.
PY - 2021/2
Y1 - 2021/2
N2 - Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients. Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate. For newborn screening applications, dried blood spot acylcarnitine analysis can be performed as a multiplex assay with other analytes, including amino acids, succinylacetone, guanidinoacetate, creatine, and lysophosphatidylcholines. Tandem mass spectrometric methodology, established more than 30 years ago, remains a valid approach for acylcarnitine analysis. The method involves flow-injection analysis of esterified or underivatized acylcarnitines species and detection using a precursor-ion scan. Alternative methods utilize liquid chromatographic separation of isomeric and isobaric species and/or detection by selected reaction monitoring. These technical standards were developed as a resource for diagnostic laboratory practices in acylcarnitine analysis, interpretation, and reporting.
AB - Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients. Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate. For newborn screening applications, dried blood spot acylcarnitine analysis can be performed as a multiplex assay with other analytes, including amino acids, succinylacetone, guanidinoacetate, creatine, and lysophosphatidylcholines. Tandem mass spectrometric methodology, established more than 30 years ago, remains a valid approach for acylcarnitine analysis. The method involves flow-injection analysis of esterified or underivatized acylcarnitines species and detection using a precursor-ion scan. Alternative methods utilize liquid chromatographic separation of isomeric and isobaric species and/or detection by selected reaction monitoring. These technical standards were developed as a resource for diagnostic laboratory practices in acylcarnitine analysis, interpretation, and reporting.
KW - acylcarnitine
KW - clinical genetic testing
KW - fatty acid oxidation disorders
KW - organic acidemias
KW - tandem mass spectrometry
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U2 - 10.1038/s41436-020-00990-1
DO - 10.1038/s41436-020-00990-1
M3 - Article
C2 - 33071282
AN - SCOPUS:85092770968
SN - 1098-3600
VL - 23
SP - 249
EP - 258
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 2
ER -