2008 Edition

 

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
Technical Standards and Guidelines for the Diagnosis of Biotinidase Deficiency 2010, ACMG 2010
Genet Med 12:7:464-470

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


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


Pharmacogenetic Testing
  Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy 2012, ACMG 2012
Genet Med 14:12:990-1000

Prenatal Diagnosis
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