American College of Medical Genetics and Genomics Practice Guidelines



Title Copyright Publication

Alzheimer Disease
Genetic counseling and testing for Alzheimer disease joint practice guidelines of the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors 2010, ACMG/NSCG 2011 Genet Med

Cancer Predisposition Evaluation 

A Practice Guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: Referral Indications for Cancer Predisposition Assessment

2015, ACMG, NSGC 2015 Genet Med

Carrier Screening
ACMG position statement on prenatal/ preconception expanded carrier screening 2013, ACMG 2013 Genet Med

Carrier Screening for Spinal Muscular Atrophy 2008, ACMG
Reaffirmed 2013

2008 Genet Med 10:11:840-842


Carrier Screening in Individuals of Ashkenazi Jewish Descent 2008, ACMG
Reaffirmed 2013

2008 Genet Med 10:1:54-56

Cystic Fibrosis
Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics and Genomics Mutation Panel 2004, ACMG
Reaffirmed 2013

2004 Genet Med 6:5:387-391

Factor V  
American College of Medical Genetics and Genomics Consensus Statement on Factor V Leiden Mutation Testing   2001, ACMG
Reaffirmed 2006
  2001 Genet Med 3:2:139-148

Fragile X

Fragile X Syndrome: Diagnostic and Carrier Testing

2004, ACMG 2005 Genet Med 7:8:584-587

Genetic Counseling

Statement on Guidance for Genetic Counseling in Advanced Paternal Age  2008, ACMG 2008 Genet Med 10:6:457-460

Genetic Testing
Technical report: ethical and policy issues in genetic testing and screening of children

2013, ACMG/AAP 2013 Genet Med 15:3:234-245
Preconception and prenatal testing of biologic fathers for carrier status

2006, ACMG
Reaffirmed 2013
2006 Genet Med 8:2:134-135

Glycogen Storage Diseases

Pompe Disease Diagnosis and Management Guideline 

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

2006, ACMG

2014, ACMG
2006 Genet Med 8:5:267-288 

2014 Genet Med 16:11, Online Only

Hearing Loss
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss 2014, ACMG
2014 Genet Med


Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

2009, ACMG 2009 Genet Med 11:220-222

Marfan Syndrome

Evaluation of the adolescent or adult with some features of Marfan syndrome

  2011, ACMG 2012 Geneti Med

Mental Retardation/Developmental Delay

Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions


2013, ACMG

Genet Med 15:5:399-407

American College of Medical Genetics and Genomics Guideline on the Cytogenetic Evaluation of the Individual with Developmental Delay or Mental Retardation


2004, ACMG

2005 Genet Med 7:9:650-654

Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities 2010, ACMG 2010  Genet Med  12:11:742-745

MTHFR Polymorphism Testing
  ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing 2013, ACMG 2013 Genet Med 15:2:153-156

Newborn Screening
Newborn Screening ACT Sheets and Confirmatory Algorithms Ongoing, ACMG

Funded in part through MCHB/HRSA/HHS grant #U22MC03957


Newborn Screening: Toward a Uniform Screening Panel and System

2006, ACMG 2006 Genet Med 8:5:Supplement

Osteogenesis Imperfecta
Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI) 2005, ACMG 2006 Genet Med 8:6:383-388

Phenylalanine Hydroxylase Deficiency (PKU)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Supplementary Materials

2014, ACMG

2014, Genet
Med 16:2:188-200

  Phenylalanine hydroxylase deficiency Corrigendum   2014,ACMG    2014, Genet Med

Prenatal Diagnosis

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias


2009, ACMG 2009 Genet Med 11:127-133

Screening for fetal aneuploidy and neural tube defects


2009, ACMG 2009 Genet Med 11:818-821

Prenatal Screening
Statement on noninvasive prenatal screening for fetal aneuploidy  2013, ACMG Genet Med 15:5:395-398

Short Stature
ACMG practice guideline: Genetic evaluation of short stature  2009, ACMG Genet Med 11:465-470

Uniparental Disomy
American College of Medical Genetics and Genomics Statement on Diagnostic Testing for Uniparental Disomy 2006, ACMG e-publication


Title Copyright Date Retired

Indications for Genetic Referral: A Guide for Healthcare Providers

2007, ACMG Retired 08/2015
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

2005, ACMG Retired 03/2014
Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines

2005, ACMG Retired 03/2013

Genetic Testing for Colon Cancer: Joint Statement of the American College of Medical Genetics and Genomics and American Society of Human Genetics

 2000, ACMG/ASHG Retired 03/2013
First trimester diagnosis and screening for fetal aneuploidy

2007, ACMG Retired 03/2013
ACMG/ASHG Report: Points to Consider: Ethical Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents

1995, ASHG Retired 03/2013

Informed Consent for Medical Photographs


2000, ACMG

Retired 08/2010

Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders

2008, ACMG

Retired 08/2010

Use of Array-Based Technology in the Practice of Medical Genetics


2007, ACMG Retired 03/2013

First Trimester Diagnosis and Screening for Fetal Aneuploidy

2008, ACMG

Retired 11/2009 

Diagnostic Testing for Prader-Willi and Angelman Syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee

1996, ASHG
Reaffirmed 2005


Retired 11/2010
Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy

2004, ACMG

Retired 11/2009

Evaluation of the Newborn with Single or Multiple Congenital Anomalies: A Clinical Guide



1999, no copyright

Retired 03/2009
CF1: Statement on Genetic Testing for Cystic Fibrosis

1997, ACMG Retired 01/2001
CF2: Recommended Core Mutation Panel for General Population CF Carrier Screening

2000, ACMG Retired 1/2001
Fragile X

2001, ACMG
Retired 06/2006