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    Laboratory diagnosis of biotinidase deficiency, 2017 update: A technical standard and guideline of the American College of Medical Genetics and Genomics

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    Author
    Strovel, E.T.
    Cowan, T.M.
    Scott, A.I.
    Date
    2017
    Journal
    Genetics in Medicine
    Publisher
    Nature Publishing Group
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://doi.org/10.1038/gim.2017.84
    Abstract
    Disclaimer: 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.
    Sponsors
    This work is supported in part by the Safra Research Fund.
    Keyword
    biotinidase deficiency
    clinical genetic testing
    multiple carboxylase deficiency
    newborn screening
    technical standards and guidelines
    Identifier to cite or link to this item
    https://www.scopus.com/inward/record.uri?eid=2-s2.0-85030763782&doi=10.1038%2fgim.2017.84&partnerID=40&md5=b8c57586dae99bd6f46aea691b05db37; http://hdl.handle.net/10713/11154
    ae974a485f413a2113503eed53cd6c53
    10.1038/gim.2017.84
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