Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the Ame

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical

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Laboratory Diagnosis of Galactosemia: A Technical Standard and Guideline of the American College of Medical Genetics and Genomics
Laboratory Diagnosis of Galactosemia: A Technical Standard and Guideline of the American College of

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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
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of t

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E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities
E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and

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Technical standards and guidelines for spinal muscular atrophy testing
Technical standards and guidelines for spinal muscular atrophy testing

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E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities
E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendati

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Shared Methodologies
Shared Methodologies

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Personnel Policies
Personnel Policies

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General Policies
General Policies

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Technical Standards and Guidelines for Huntington Disease Testing, 2014 Revision
Technical Standards and Guidelines for Huntington Disease Testing, 2014 Revision

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Laboratory guideline for Turner syndrome
Laboratory guideline for Turner syndrome

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ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements

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ACMG clinical laboratory standards for next-generation sequencing (includes supplementary information)
ACMG clinical laboratory standards for next-generation sequencing (includes supplementary informatio

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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnata

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ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch s

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ACMG Standards and guidelines for documented suspected consanguinity as an incidental finding of genomic testing
ACMG Standards and guidelines for documented suspected consanguinity as an incidental finding of gen

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Risk categorization for oversight of laboratory-developed tests for inherited conditions
Risk categorization for oversight of laboratory-developed tests for inherited conditions

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American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders
American College of Medical Genetics and Genomics technical standards and guidelines: microarray ana

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Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy

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American College of Medical Genetics and Genomics recommendations for the design and performance expections for clinical genomic copy number microarrays intended fo r use in the postnatal setting for detection of constitutional abnormalities
American College of Medical Genetics and Genomics recommendations for the design and performance exp

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Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization
Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluoresce

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American College of Medical Genetics and Genomics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
American College of Medical Genetics and Genomics standards and guidelines for interpretation and re

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Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

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Molecular Genetic Testing for Ultra Rare Disorders
Molecular Genetic Testing for Ultra Rare Disorders

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Technical standards and guidelines for myotonic dystrophy type 1 testing
Technical standards and guidelines for myotonic dystrophy type 1 testing

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Technical Standards and Guidelines: Prenatal Screening for Down Syndrome that Includes First-Trimester Biochemistry and/or Ultrasound Measurements
Technical Standards and Guidelines: Prenatal Screening for Down Syndrome that Includes First-Trimest

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Fragile X Letter to the Editor of GIM
Fragile X Letter to the Editor of GIM

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Technical Standards and Guidelines for Reproductive Screening in the Ashkenazi Jewish Population
Technical Standards and Guidelines for Reproductive Screening in the Ashkenazi Jewish Population

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Acylcarnitine Profile Analysis
Acylcarnitine Profile Analysis

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