Posts for Document Type: Laboratory Guidance
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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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Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
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Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (Archived)