Laboratory Standards & Guidelines



GENERAL STANDARDS & GUIDELINES
Introduction
A.	Overview
B.	Personnel Policies
C.	General Policies
D.	Shared Methodologies
E.	Clinical Cytogenetics
F.	Clinical Biochemical Genetics
G.	Clinical Molecular Genetics
DISEASE/PHENOTYPE-SPECIFIC STANDARDS & GUIDELINES

Title		Copyright	Publication



Acylcarnitine Analysis
	Acylcarnitine Profile Analysis	2007, ACMG	2007 Genetic Med 8:10:151-156

Biotinidase Deficiency
	Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics	2017, ACMG	2017 Genet Med, online only
	Erratum	2017, ACMG	2017 Genet Med, online only

Cancer Cytogenetics
	E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities	2016, ACMG	2016 Genet Med, 18:6:635-642
	Erratum	2016, ACMG	2016 Genet Med, 18:8:859
	E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities	2016, ACMG	2016 Genet Med, 18:6:643-648
	Supplementary files	2016, ACMG	2016 Genet Med, 18:6, online only

Carrier Screening
	Technical Standards and Guidelines for Reproductive Screening in the Ashkenazi Jewish Population	2008, ACMG	2008 Genet Med 10:1:57-72

CGH/Microarray
	American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders	2013, ACMG	2013 Genet Med 15:6:484-494
	ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013	2013, ACMG	2013 Genet Med 15:11:901-909

Creatine Deficiency Syndromes
	Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics	2017, ACMG	2017 Genet Med 19:2:256-263

Cystic Fibrosis
	Population-based Cystic Fibrosis Carrier Screening	2001, ACMG	2001 Genet Med 3:2:149-154

	CFTR Mutation Testing	2008, ACMG Updated in conjunction Section G above	e-publication

Documenting Suspected Consanguinity as an Incidental Finding
	ACMG: Standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing	2013, ACMG	2013 Genet Med 15:2:150-152

Factor V
	Venous Thromboembolism (Factor V Leiden and Prothrombin 20210G>A) Testing,	2004, ACMG	2005 Genet Med 7:6:444 - 453

Fluorescence In Situ Hybridization (FISH)
	Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization	2011, ACMG	2011 Genet Med 13:7:667-675

Fragile X
	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.	2013, ACMG	2013 Genet Med 15:7: 575-586
	Supplementary Appendix	2013, ACMG	2013 Genet Med 15(7) e-publication only
	Fragile X	2001, Updated 2005, ACMG	2001 Genet Med 3:3:200-2005 (retired) Updated e-publication
	Fragile X Letter to the Editor of GIM	2008, ACMG	2008 Genet Med 10:11:845-847

Galactosemia
	Laboratory Diagnosis of Galactosemia: A Technical Standard and Guideline of the American College of Medical Genetics and Genomics	2017, ACMG	2018, Genet Med, 20:1:3-11
Huntington Disease
	Technical Standards and Guidelines for Huntington Disease Testing, 2014 Revision	2014, ACMG	2014, Genet Med 16:12: online only

Inherited Colorectal Cancer
	ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)	2013, ACMG	2014 Genet Med 16:1:101-116
	Supplementary Appendix	2013, ACMG	2013 Published online only
	Supplementary Tables	2013, ACMG	2013 Published online only

Lysosomal Storage Diseases
	Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals	2011, ACMG	2011 Genet Med 13:5:457-484

Myotonic Dystrophy Type 1
	Technical standards and guidelines for myotonic dystrophy type 1 testing	2009, ACMG Reaffirmed 2015	2009 Genet Med 11:7:552-555
	Addendum		2016 Genet Med 18:1:107

Next-Generation Sequencing
	ACMG clinical laboratory standards for next-generation sequencing (includes supplementary information)	2013, ACMG	2013 Genet Med 15:9:733-747
Organic Acid Analysis
	Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	2018, ACMG	2018 Genet Med, ahead of publication
Pharmacogenetic Testing
	Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy	2012, ACMG	2012 Genet Med 14:12:990-1000

Prenatal Diagnosis
	Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics	2017, ACMG	2017 Genet Med 19:8:845-850
	Technical Standards and Guidelines: Prenatal Screening for Down Syndrome that Includes First-Trimester Biochemistry and/or Ultrasound Measurements	2009, ACMG	2009 Genet Med 11:9:669-681
	Prenatal Screening for Open Neural Tube Defects	2005, ACMG	2005 Genet Med 7:5:355-369

Postnatal Diagnosis
	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	2011, ACMG	2011 Genet Med 13:7:676-679
	American College of Medical Genetics and Genomics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants	2011, ACMG	2011 Genet Med 13:7:680-685

Risk Categorization for Genetic Test Oversight
	Risk categorization for oversight of laboratory-developed tests for inherited conditions	2013, ACMG	2013 Genet Med 15:4:314-5

Sequence Variations
	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	2015, ACMG and AMP	2015 Genet Med 17:5:405-424
	Supplementary File	2015, ACMG and AMP	2015 Published online only

Spinal Muscular Atrophy
	Technical standards and guidelines for spinal muscular atrophy testing	2011, ACMG Reaffirmed 2016	2011 Genet Med 13:7:686-694
	Addendum	2016, ACMG	2016 Genet Med 18:7:752

Turner Syndrome
	Laboratory guideline for Turner syndrome	2010, ACMG Reaffirmed 2014	2010 Genet Med 12:1:52-55
	Turner Syndrome Corrigendum	2012, ACMG	2012
	Addendum	2016, ACMG	2016 Genet Med 18:1:107


Ultra Rare Disorders
	Molecular Genetic Testing for Ultra Rare Disorders	2004, ACMG Revised 2009	2005 Genet Med 7:8:571-583 Erratum e-publication

RETIRED STANDARDS & GUIDELINES
If you require copies of these retired documents, please contact ACMG at acmg@acmg.net


Title		Copyright	Date Retired

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions		2007, ACMG	Retired 06/01/2015
ACMG Recommendations for Standards for Interpretation of Sequence Variations		2000, ACMG	Retired 12/08/2010
Fragile X		2001, ACMG	Retired 06/08/2006
Huntington Disease		2004, ACMG	Retired 11/03/2014
Microarray Analysis for Constitutional Cytogenetic Abnormalities		2007, ACMG	Retired 10/16/2013
Standards & Guidelines for CTFR Mutation Testing		2002, ACMG	Retired 06/08/2006
Technical Standard and Guidelines for the Diagnosis of Biotinidase Deficiency		2010, ACMG	Retired 07/06/2017

E6.5-6.8 of the ACMG technical standards and guidlines:chromsome studies of lymph node and solidee tumor-acquiered chromosomal abnormalities

GENERAL STANDARDS & GUIDELINES