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American College of Medical Genetics and Genomics Practice Guidelines
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ACTIVE LIST
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Copyright |
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Publication |
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| Alzheimer Disease |
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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 |
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2010, ACMG/NSCG |
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2011 Genet Med
13:6:597-605 |
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| Breast Cancer |
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Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines |
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2005, ACMG
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e-publication |
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| Carrier Screening |
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Carrier Screening for Spinal Muscular Atrophy |
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2008, ACMG |
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2008 Genet Med 10:11:840-842
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Carrier Screening in Individuals of Ashkenazi Jewish Descent |
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2008, ACMG |
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2008 Genet Med 10:1:54-56 |
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| Colon Cancer |
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Genetic Testing for Colon Cancer: Joint Statement of the American College of Medical Genetics and Genomics and American Society of Human Genetics
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2000, ACMG/ASHG |
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2000 Genet Med 2:6:362-366 |
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| Cystic Fibrosis |
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Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics and Genomics Mutation Panel |
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2004, ACMG |
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2004 Genet Med 6:5:387-391 |
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| Factor V |
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American College of Medical Genetics and Genomics Consensus Statement on Factor V Leiden Mutation Testing |
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2001, ACMG
Reaffirmed 2006
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2001 Genet Med 3:2:139-148 |
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| Fragile X |
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Fragile X Syndrome: Diagnostic and Carrier Testing
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2004, ACMG |
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2005 Genet Med 7:8:584-587 |
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Genetic Counseling
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Statement on Guidance for Genetic Counseling in Advanced Paternal Age |
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2008, ACMG |
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2008 Genet Med 10:6:457-460 |
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| Genetic Testing |
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ACMG/ASHG Report: Points to Consider: Ethical Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents
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1995, ASHG |
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1995 Am J Hum Genet 57:1233-1241 |
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Preconception and prenatal testing of biologic fathers for carrier status
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2006, ACMG |
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2006 Genet Med 8:2:134-135 |
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Indications for Genetic Referral: A Guide for Healthcare Providers
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2007, ACMG |
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2007 Genet Med 9:6:385-389 |
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First trimester diagnosis and screening for fetal aneuploidy |
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2007, ACMG |
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2008 Genet Med 10:1:73-75 |
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| Hearing Loss |
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Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss |
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2002 ACMG
Reaffirmed 2005
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2002 Genet Med 4:3:162-171 |
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Hemihyperplasia
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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia |
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2009, AMCG |
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2009 Genet Med 11:220-222 |
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| Legal & Ethical Issues |
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Informed Consent for Medical Photographs
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2000, ACMG |
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2000 Genet Med 2:6:353-355 |
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| Marfan Syndrome |
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Evaluation of the adolescent or adult with some features of Marfan syndrome |
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2011, ACMG |
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2012 Geneti Med
14:1:171-177 |
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| Mental Retardation/Developmental Delay |
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American College of Medical Genetics and Genomics Guideline on the Cytogenetic Evaluation of the Individual with Developmental Delay or Mental Retardation
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2004, ACMG
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2005 Genet Med 7:9:650-654
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Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders |
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2008, ACMG |
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2008 Genet Med 10:4:301-305
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| Microarray/CMA/CGH |
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Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities |
2010, ACMG |
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2010 Genet Med 12:11:742-745 |
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| MTHFR Polymorphism Testing |
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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing |
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2013, ACMG |
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2013 Genet Med 15:2:153-156 |
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| Newborn Screening |
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Newborn Screening ACT Sheets and Confirmatory Algorithms |
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2006, ACMG |
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Funded in part through MCHB/HRSA/HHS grant #U22MC03957
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Newborn Screening: Toward a Uniform Screening Panel and System
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2006, ACMG |
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2006 Genet Med 8:5:Supplement |
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| Osteogenesis Imperfecta |
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Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI) |
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2005, ACMG |
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2006 Genet Med 8:6:383-388 |
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| Pompe Disease |
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Pompe Disease Diagnosis and Management Guideline
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2006, ACMG |
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2006 Genet Med 8:5:267-288 |
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| Prenatal Diagnosis |
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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
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ACMG, 2009 |
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2009 Genet Med 11:127-133 |
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Screening for fetal aneuploidy and neural tube defects
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ACMG, 2009 |
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2009 Genet Med 11:818-821 |
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| Short Stature |
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ACMG practice guideline: Genetic evaluation of short stature |
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2009, ACMG |
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Genet Med 11:465-470 |
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| Uniparental Disomy |
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American College of Medical Genetics and Genomics Statement on Diagnostic Testing for Uniparental Disomy |
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2006, ACMG |
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e-publication |
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| RETIRED PRACTICE GUIDELINES |
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| Title |
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Copyright |
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Date Retired |
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Use of Array-Based Technology in the Practice of Medical Genetics
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2007, ACMG |
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Retired 08/2010 |
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First Trimester Diagnosis and Screening for Fetal Aneuploidy
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2008, ACMG
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Retired 11/2009 |
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Diagnostic Testing for Prader-Willi and Angelman Syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee
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1996, ASHG
Reaffirmed 2005
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Retired 11/2010 |
Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy
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2004, ACMG
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Retired 11/2009
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Evaluation of the Newborn with Single or Multiple Congenital Anomalies: A Clinical Guide
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1999, no copyright
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Retired 03/2009 |
CF1: Statement on Genetic Testing for Cystic Fibrosis
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1997, ACMG |
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Retired 01/2001 |
CF2: Recommended Core Mutation Panel for General Population CF Carrier Screening
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2000, ACMG |
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Retired 1/2001 |
- Fragile X
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- 2001, ACMG
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Retired 06/2006 |
