ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)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.
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Amino acid abnormalities are observed in a broad spectrum of inheritedmetabolic diseases, such as disorders of amino acid metabolism and transport,organic acidemias, and ureagenesis defects. Comprehensive analysis of physiologicamino acids in blood, urine, and cerebrospinal fluid is typically performed in thefollowing clinical settings: evaluation of symptomatic patients in whom a diagnosisis not known; evaluation of previously diagnosed patients to monitor treatmentefficacy; evaluation of asymptomatic or presymptomatic (at-risk) relatives of knownpatients; follow-up testing for an abnormal newborn screen; and assessment ofdietary protein adequacy or renal function in general patient populations.Currently, the most common analytical method to quantify amino acids is based on ionexchange chromatography using post-column derivatization with ninhydrin andspectrophotometric detection.
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and GenomicsDisclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen.