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dc.contributor.authorStrovel, E.T.
dc.contributor.authorCowan, T.M.
dc.contributor.authorScott, A.I.
dc.date.accessioned2019-10-08T19:43:55Z
dc.date.available2019-10-08T19:43:55Z
dc.date.issued2017
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85030763782&doi=10.1038%2fgim.2017.84&partnerID=40&md5=b8c57586dae99bd6f46aea691b05db37
dc.identifier.urihttp://hdl.handle.net/10713/11154
dc.description.abstractDisclaimer: 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. Clinical laboratory scientists and geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.en_US
dc.description.sponsorshipThis work is supported in part by the Safra Research Fund.en_US
dc.description.urihttps://doi.org/10.1038/gim.2017.84en_US
dc.language.isoen_USen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofGenetics in Medicine
dc.subjectbiotinidase deficiencyen_US
dc.subjectclinical genetic testingen_US
dc.subjectmultiple carboxylase deficiencyen_US
dc.subjectnewborn screeningen_US
dc.subjecttechnical standards and guidelinesen_US
dc.titleLaboratory diagnosis of biotinidase deficiency, 2017 update: A technical standard and guideline of the American College of Medical Genetics and Genomicsen_US
dc.typeArticleen_US
dc.identifier.doi10.1038/gim.2017.84
dc.identifier.pmid28682309


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