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GENERAL STANDARDS & GUIDELINES
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| Introduction |
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| A. |
Overview
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| B. |
Personnel Policies
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| C. |
General Policies
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| D. |
Shared Methodologies
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| E. |
Clinical Cytogenetics
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| F. |
Clinical Biochemical Genetics
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| G. |
Clinical Molecular Genetics
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DISEASE/PHENOTYPE-SPECIFIC STANDARDS & GUIDELINES
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| Title |
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Copyright
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Publication
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| Acylcarnitine Analysis |
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Acylcarnitine Profile Analysis |
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2007, ACMG |
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2007
Genetic Med 8:10:151-156 |
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| Biotinidase Deficiency |
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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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2017, ACMG |
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2017
Genet Med, online only
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Erratum
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2017, ACMG |
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2017
Genet Med, online only |
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| Cancer Cytogenetics |
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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
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2016, ACMG |
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2016
Genet Med, 18:6:635-642 |
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Erratum
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2016, ACMG |
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2016
Genet Med, 18:8:859 |
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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
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2016, ACMG |
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2016
Genet Med, 18:6:643-648 |
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Supplementary files
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2016, ACMG |
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2016
Genet Med, 18:6, online only |
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| Carrier Screening |
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Technical Standards and Guidelines for Reproductive Screening in the
Ashkenazi Jewish Population |
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2008, ACMG |
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2008
Genet Med 10:1:57-72
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| CGH/Microarray |
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American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders
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2013, ACMG |
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2013
Genet Med 15:6:484-494 |
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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
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2013, ACMG |
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2013
Genet Med 15:11:901-909 |
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| Creatine Deficiency Syndromes |
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Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics |
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2017, ACMG |
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2017 Genet
Med 19:2:256-263
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| Cystic Fibrosis |
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Population-based Cystic Fibrosis Carrier Screening
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2001, ACMG
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2001
Genet Med 3:2:149-154
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CFTR Mutation Testing |
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2008, ACMG
Updated in conjunction Section G above
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e-publication
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| Documenting Suspected Consanguinity as an Incidental Finding |
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ACMG: Standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing |
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2013, ACMG
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2013 Genet Med 15:2:150-152
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| Factor V |
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Venous Thromboembolism (Factor V Leiden and Prothrombin 20210G>A) Testing, |
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2004, ACMG
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2005
Genet Med 7:6:444 - 453
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| Fluorescence In Situ Hybridization (FISH) |
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Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization |
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2011, ACMG
Reaffirmed, 2018
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2011
Genet Med 13:7:667-675
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| Fragile X |
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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.
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2013, ACMG
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2013
Genet Med 15:7: 575-586
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Supplementary Appendix
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2013, ACMG
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2013
Genet Med 15(7) e-publication only
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Fragile X |
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2001, Updated
2005, ACMG |
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2001
Genet Med 3:3:200-2005 (retired)
Updated e-publication
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Fragile X Letter to the Editor of GIM |
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2008, ACMG
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2008 Genet Med 10:11:845-847
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| Galactosemia |
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Laboratory Diagnosis of Galactosemia: A Technical Standard and Guideline of the American College of Medical Genetics and Genomics
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2017, ACMG
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2018, Genet Med, 20:1:3-11
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Huntington Disease |
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Technical Standards and Guidelines for Huntington Disease Testing, 2014 Revision
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2014, ACMG
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2014, Genet Med 16:12: online only
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| Inherited Colorectal Cancer |
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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) |
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2013, ACMG
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2014
Genet Med 16:1:101-116
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Supplementary Appendix
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2013, ACMG
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2013
Published online only
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Supplementary Tables
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2013, ACMG
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2013
Published online only
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| Lysosomal Storage Diseases |
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Lysosomal storage diseases: Diagnostic confirmation
and management of presymptomatic individuals
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2011, ACMG |
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2011
Genet Med 13:5:457-484 |
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| Myotonic Dystrophy Type 1 |
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Technical standards and guidelines for myotonic dystrophy type 1 testing |
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2009, ACMG
Reaffirmed 2015
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2009
Genet Med 11:7:552-555
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Addendum |
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2016
Genet Med 18:1:107 |
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| Next-Generation Sequencing |
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ACMG clinical laboratory standards for next-generation sequencing (includes supplementary information) |
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2013, ACMG
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2013
Genet Med 15:9:733-747
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| Organic Acid Analysis |
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Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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2018, ACMG
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2018
Genet Med, ahead
of publication
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| Pharmacogenetic Testing |
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Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy |
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2012, ACMG |
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2012
Genet Med 14:12:990-1000 |
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| Prenatal Diagnosis |
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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
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2017, ACMG
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2017
Genet Med 19:8:845-850
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Technical Standards and Guidelines: Prenatal Screening for Down Syndrome that Includes First-Trimester Biochemistry and/or Ultrasound Measurements
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2009, ACMG
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2009
Genet Med 11:9:669-681
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Prenatal Screening for Open Neural Tube Defects
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2005, ACMG
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2005
Genet Med 7:5:355-369 |
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| Postnatal Diagnosis |
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American College of Medical Genetics and Genomics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
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2011, ACMG |
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2011
Genet Med 13:7:680-685 |
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| Risk Categorization for Genetic Test Oversight |
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Risk categorization for oversight of laboratory-developed tests for inherited conditions
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2013, ACMG |
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2013 Genet Med 15:4:314-5 |
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| Sequence Variations |
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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
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2015, ACMG and AMP
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2015 Genet Med 17:5:405-424
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Supplementary File
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2015, ACMG and AMP
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2015
Published online only
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| Spinal Muscular Atrophy |
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Technical standards and guidelines for spinal muscular
atrophy testing |
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2011, ACMG
Reaffirmed, 2016 |
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2011
Genet Med 13:7:686-694
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Addendum |
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2016, ACMG
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2016
Genet Med 18:7:752
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| Turner Syndrome |
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Laboratory guideline for Turner syndrome |
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2010, ACMG
Reaffirmed 2014
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2010
Genet Med 12:1:52-55 |
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Turner Syndrome Corrigendum |
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2012, ACMG |
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2012
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Addendum
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2016, ACMG
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2016
Genet Med 18:1:107 |
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| Ultra Rare Disorders |
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Molecular Genetic Testing for Ultra Rare Disorders
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2004, ACMG
Revised 2009
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2005
Genet Med 7:8:571-583 Erratum
e-publication
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| RETIRED STANDARDS & GUIDELINES |
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If you require copies of these retired documents, please contact ACMG at acmg@acmg.net
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| Title |
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Copyright |
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Date Retired |
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions
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2007, ACMG |
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Retired 06/01/2015
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ACMG Recommendations for Standards for Interpretation of Sequence Variations
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2000, ACMG |
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Retired 12/08/2010
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| Fragile X |
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2001, ACMG
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Retired 06/08/2006 |
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Huntington Disease
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2004, ACMG |
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Retired 11/03/2014
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Microarray Analysis for Constitutional Cytogenetic Abnormalities
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2007, ACMG |
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Retired 10/16/2013
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Standards & Guidelines for CTFR Mutation Testing
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2002, ACMG |
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Retired 06/08/2006
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Technical Standard and Guidelines for the Diagnosis of Biotinidase Deficiency
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2010, ACMG |
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Retired 07/06/2017
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American College of Medical Genetics and Genomics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
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2011, ACMG |
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Retired 05/21/2018 |
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FISH2: Technical and Clinical Assessment of: An ACMG/ASHG Position Statement. I: Technical Considerations
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2000, ACMG |
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Retired 05/21/18 |
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