ACMG Statements and Guidelines

Content

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  Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Anthony R. Gregg
  • Mahmoud Aarabi
  • ACMG Professional Practice and Guidelines Committee

  ACMG Practice Resource20 Jul 2021 Genetics in Medicine

• Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

  • Elizabeth C. Chao
  • Caroline Astbury
  • ACMG Laboratory Quality Assurance Committee

  ACMG Statement16 Apr 2021 Genetics in Medicine
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  Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

  • Kandamurugu Manickam
  • Monica R. McClain
  • ACMG Board of Directors

  ACMG Practice Guideline1 Jul 2021 Genetics in Medicine

• Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)

  • ACMG Board of Directors

  ACMG Statement28 Jun 2021 Genetics in Medicine

• Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Lina Shao
  • Yassmine Akkari
  • ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard15 Jun 2021 Genetics in Medicine

• ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

  • David T. Miller
  • Kristy Lee
  • ACMG Secondary Findings Working Group

  ACMG Statement20 May 2021 Genetics in Medicine
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  Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Marc Tischkowitz
  • Judith Balmaña
  • ACMG Professional Practice and Guidelines Committee

  ACMG Practice Resource11 May 2021 Genetics in Medicine

• DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

  • Lora J. H. Bean
  • Maren T. Scheuner
  • ACMG Board of Directors

  ACMG Statement31 Mar 2021 Genetics in Medicine
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  Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Elaine Spector
  • Andrea Behlmann
  • ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard1 Apr 2021 Genetics in Medicine

• Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

  • Erin Rooney Riggs
  • Erica F. Andersen
  • Christa Lese Martin

  Correction17 Mar 2021 Genetics in Medicine

• Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing

  • Sucheta Bhatt
  • Annette K. Taylor
  • ACMG Professional Practice and Guidelines Committee

  Addendum5 Mar 2021 Genetics in Medicine
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  Focused Revision: ACMG practice resource: Genetic evaluation of short stature

  • Cassie S. Mintz
  • Laurie H. Seaver
  • ACMG Professional Practice and Guidelines Committee

  Addendum29 Jan 2021 Genetics in Medicine

• Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

  • Lora Bean
  • Pinar Bayrak-Toydemir
  • ACMG Laboratory Quality Assurance Committee

  Addendum20 Jul 2020 Genetics in Medicine

• Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

  • Edward D. Esplin
  • American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee

  Addendum6 Jul 2020 Genetics in Medicine

• Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

  • Michael T. Bashford
  • Scott E. Hickey
  • Helga V. Toriello

  Correction26 Jun 2020 Genetics in Medicine

• Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

  • Michael T. Bashford
  • Scott E. Hickey
  • American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee

  Addendum12 Jun 2020 Genetics in Medicine

• Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome

  • Manisha Balwani
  • the American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee

  Addendum8 Jun 2020 Genetics in Medicine

• Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

  • Melanie Manning
  • Louanne Hudgins
  • the American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee

  Addendum8 Jun 2020 Genetics in Medicine
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  DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

  • Michael F. Murray
  • Monica A. Giovanni
  • ACMG Board of Directors

  ACMG Statement16 Mar 2021 Genetics in Medicine
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  Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Marcus J. Miller
  • Kristina Cusmano-Ozog
  • ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard19 Oct 2020 Genetics in Medicine

• Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Kim L. McBride
  • Susan A. Berry
  • ACMG Therapeutics Committee

  ACMG Practice Resource3 Aug 2020 Genetics in Medicine

• The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

  • Theresa A. Grebe
  • George Khushf
  • ACMG Social, Ethical and Legal Issues Committee

  ACMG Statement1 Jun 2020 Genetics in Medicine

• Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

  • Joshua L. Deignan
  • Elizabeth Chao
  • ACMG Laboratory Quality Assurance Committee

  ACMG Statement14 May 2020 Genetics in Medicine

• CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Joshua L. Deignan
  • Caroline Astbury
  • ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard14 May 2020 Genetics in Medicine

• Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

  • Marilyn M. Li
  • Elizabeth Chao
  • ACMG Professional Practice and Guidelines Committee

  ACMG Statement23 Apr 2020 Genetics in Medicine
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  Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

  • Daniela del Gaudio
  • Marwan Shinawi
  • ACMG Laboratory Quality Assurance Committee

  ACMG Statement16 Apr 2020 Genetics in Medicine
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  Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

  • Jennifer Malinowski
  • David T. Miller
  • on behalf of the ACMG Professional Practice and Guidelines Committee

  ACMG Systematic Evidence Review23 Mar 2020 Genetics in Medicine

• Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

  • Sarah T. South
  • Michelle McClure
  • on behalf of the ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines Committees

  ACMG Statement4 Mar 2020 Genetics in Medicine

• The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

  • Kristin G. Monaghan
  • Natalia T. Leach
  • on behalf of the ACMG Professional Practice and Guidelines Committee

  ACMG Statement8 Jan 2020 Genetics in Medicine

• Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

  • Tuya Pal
  • Doreen Agnese
  • on behalf of the Professional Practice and Guidelines Committee

  ACMG Statement13 Dec 2019 Genetics in Medicine

• Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Irene De Biase
  • Silvia Tortorelli
  • on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard11 Dec 2019 Genetics in Medicine
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  Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Lora J. H. Bean
  • Birgit Funke
  • on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard16 Nov 2019 Genetics in Medicine

• Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Glenn E. Palomaki
  • Caleb Bupp
  • on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee

  ACMG Technical Standard8 Nov 2019 Genetics in Medicine

• Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

  • Erin Rooney Riggs
  • Erica F. Andersen
  • Christa Lese Martin

  ACMG Technical Standard6 Nov 2019 Genetics in Medicine

• Access to reproductive options after prenatal diagnosis—patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

  • ACMG Board of Directors

  ACMG Statement3 Oct 2019 Genetics in Medicine
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  Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)

  • Fady M. Mikhail
  • Jaclyn A. Biegel
  • Gordana Raca

  ACMG Technical Standard29 May 2019 Genetics in Medicine

• The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

  • ACMG Board of Directors

  ACMG Statement25 Apr 2019 Genetics in Medicine

• Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

  • Joshua L. Deignan
  • Wendy K. Chung
  • on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Statement24 Apr 2019 Genetics in Medicine
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  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Priya S. Kishnani
  • Jennifer Goldstein
  • on behalf of the ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX

  ACMG Practice Resource19 Jan 2019 Genetics in Medicine

• Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

  • Karen L. David
  • Robert G. Best
  • on behalf of the ACMG Social Ethical Legal Issues Committee

  ACMG Policy Statement22 Dec 2018 Genetics in Medicine

• Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • J. Daniel Sharer
  • Irene De Biase
  • on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard19 Oct 2018 Genetics in Medicine

• Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Shulin Zhang
  • Annette K. Taylor
  • on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Technical Standard5 Oct 2018 Genetics in Medicine

• Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics

  • ACMG Board of Directors

  ACMG Policy Statement22 Aug 2018 Genetics in Medicine

• Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Darrel Waggoner
  • Karen E. Wain
  • on behalf of the ACMG Professional Practice and Guidelines Committee

  ACMG Practice Resource18 Jun 2018 Genetics in Medicine

• Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Ray E. Hershberger
  • Michael M. Givertz
  • on behalf of the ACMG Professional Practice and Guidelines Committee

  ACMG Practice Resource14 Jun 2018 Genetics in Medicine

• Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Douglas R Stewart
  • Bruce R Korf
  • Kaleb Yohay

  ACMG Practice Guideline26 Apr 2018 Genetics in Medicine

• Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

  • Lynn W Bush
  • Louis E Bartoshesky
  • the ACMG SELI committee

  ACMG Practice Guideline22 Mar 2018 Genetics in Medicine

• Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

  • Renata C Gallagher
  • Laura Pollard
  • the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee

  ACMG Technical Standard15 Mar 2018 Genetics in Medicine

• Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics

  • ACMG Board of Directors

  ACMG Statement1 Feb 2018 Genetics in Medicine

• Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

  • Lynn W Bush
  • Anita E Beck
  • on behalf of the ACMG SELI committee

  ACMG Statement11 Jan 2018 Genetics in Medicine
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  Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

  • Marzia Pasquali
  • Chunli Yu
  • on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines26 Oct 2017 Genetics in Medicine

• Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Athena M Cherry
  • Yassmine M Akkari
  • Jeanne M Meck

  ACMG Practice Resource20 Jul 2017 Genetics in Medicine
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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

  • Erin T Strovel
  • Tina M Cowan
  • Barry Wolf

  ACMG Standards and Guidelines5 Jul 2017 Genetics in Medicine

• Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics

  • ACMG Board of Directors

  ACMG Statement26 Jan 2017 Genetics in Medicine

• Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

  • ACMG Board of Directors

  ACMG Statement5 Jan 2017 Genetics in Medicine
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  Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

  • J. Daniel Sharer
  • Olaf Bodamer
  • ; a Workgroup of the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines5 Jan 2017 Genetics in Medicine

• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

  • Sarah S. Kalia
  • Kathy Adelman
  • ; on behalf of the ACMG Secondary Findings Maintenance Working Group

  ACMG Statement17 Nov 2016 Genetics in Medicine

• Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

  • Anthony R. Gregg
  • Brian G. Skotko
  • ; on behalf of the ACMG Noninvasive Prenatal Screening Work Group

  ACMG Statement28 Jul 2016 Genetics in Medicine

• Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities

  • Linda D. Cooley
  • Cynthia C. Morton
  • ; on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines28 Apr 2016 Genetics in Medicine

• Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

  • Fady M. Mikhail
  • Nyla A. Heerema
  • ; on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines28 Apr 2016 Genetics in Medicine

• Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics

  • ACMG Board of Directors

  ACMG Policy Statement17 Dec 2015 Genetics in Medicine

• Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG)

  • ACMG Board of Directors

  ACMG Policy Statement23 Jul 2015 Genetics in Medicine

• Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

  • ACMG Board of Directors

  ACMG Policy Statement12 Mar 2015 Genetics in Medicine
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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

  • Sue Richards
  • Nazneen Aziz
  • ; on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines5 Mar 2015 Genetics in Medicine

• ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

  • ACMG Board of Directors

  ACMG Policy Statement13 Nov 2014 Genetics in Medicine

• 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

  • Heather Hampel
  • Robin L. Bennett
  • ; for a Guideline Development Group of the American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and of the National Society of Genetic Counselors Practice Guidelines Committee

  ACMG Practice Guideline13 Nov 2014 Genetics in Medicine
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  Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

  • Priya S. Kishnani
  • Stephanie L. Austin
  • Michael S. Watson

  ACMG Standards and Guidelines6 Nov 2014 Genetics in Medicine
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  American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

  • Lora Bean
  • Pinar Bayrak-Toydemir
  • ; on behalf of the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines30 Oct 2014 Genetics in Medicine
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  American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

  • ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline20 Mar 2014 Genetics in Medicine
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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)

  • Madhuri Hegde
  • Mathew Ferber
  • ; a Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines5 Dec 2013 Genetics in Medicine

• ACMG statement on access to reproductive options after prenatal diagnosis

  • ACMG Board of Directors

  ACMG Policy Statement17 Oct 2013 Genetics in Medicine

• Phenylalanine hydroxylase deficiency: diagnosis and management guideline

  • the American College of Medical Genetics and Genomics Therapeutic Committee

  ACMG Practice Guideline10 Oct 2013 Genetics in Medicine

• ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

  • Sarah T. South
  • Charles Lee
  • ; for the Working Group for the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines26 Sep 2013 Genetics in Medicine

• Points to consider for informed consent for genome/exome sequencing

  • ACMG Board of Directors

  ACMG Policy Statement22 Aug 2013 Genetics in Medicine
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  ACMG clinical laboratory standards for next-generation sequencing

  • Heidi L. Rehm
  • Sherri J. Bale
  • ; for the Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee

  ACMG Practice Guideline25 Jul 2013 Genetics in Medicine

• Incidental findings in clinical genomics: a clarification

  • American College of Medical Genetics and Genomics

  ACMG Practice Guideline4 Jul 2013 Genetics in Medicine

• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

  • Robert C. Green
  • Jonathan S. Berg
  • Leslie G. Biesecker

  ACMG Policy Statement20 Jun 2013 Genetics in Medicine
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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

  • Kristin G. Monaghan
  • Elaine Lyon
  • Elaine B. Spector

  ACMG Standards and Guidelines13 Jun 2013 Genetics in Medicine

• ACMG position statement on prenatal/preconception expanded carrier screening

  • Wayne W. Grody
  • Barry H. Thompson
  • Roger V. Lebo

  ACMG Policy Statement25 Apr 2013 Genetics in Medicine

• American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

  • A Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines25 Apr 2013 Genetics in Medicine

• ACMG statement on noninvasive prenatal screening for fetal aneuploidy

  • The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics

  ACMG Policy Statement4 Apr 2013 Genetics in Medicine

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

  • G. Bradley Schaefer
  • Nancy J. Mendelsohn
  • ; for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline21 Mar 2013 Genetics in Medicine

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

  • Laine Friedman Ross
  • Howard M. Saal
  • and the American Academy of Pediatrics; American College of Medical Genetics and Genomics

  ACMG Policy Statement21 Feb 2013 Genetics in Medicine

• Risk categorization for oversight of laboratory-developed tests for inherited conditions

  • Kristin G. Monaghan
  • Judith Benkendorf
  • a joint working group of the Laboratory Quality Assurance and the Professional Practice and Guidelines Committees of the American College of Medical Genetics and Genomics

  ACMG Policy Statement24 Jan 2013 Genetics in Medicine

• American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

  • Catherine W. Rehder
  • Karen L. David
  • Hutton M. Kearney

  ACMG Standards and Guidelines17 Jan 2013 Genetics in Medicine
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  ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

  • Scott E. Hickey
  • Cynthia J. Curry
  • Helga V. Toriello

  ACMG Practice Guideline3 Jan 2013 Genetics in Medicine
• 

  Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy

  • Elaine Lyon
  • Julie Gastier Foster
  • ; A working group of the Molecular Genetics Subcommittee on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines6 Sep 2012 Genetics in Medicine

• Points to consider in the clinical application of genomic sequencing

  • ACMG Board of Directors

  ACMG Policy Statement3 Aug 2012 Genetics in Medicine

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

  • Reed E. Pyeritz
  • for the Professional Practice and Guidelines Committee, ACMG

  ACMG Practice Guideline5 Jan 2012 Genetics in Medicine

• Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

  • James T Mascarello
  • Betsy Hirsch
  • A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

  ACMG Policy Statement1 Jul 2011 Genetics in Medicine

• American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

  • Hutton M Kearney
  • Erik C Thorland
  • A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

  ACMG Policy Statement15 Jun 2011 Genetics in Medicine

• American College of Medical Genetics 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

  • Hutton M Kearney
  • Sarah T South
  • A Working Group of the American College of Medical Genetics

  ACMG Policy Statement15 Jun 2011 Genetics in Medicine

• Technical standards and guidelines for spinal muscular atrophy testing

  • Thomas W Prior
  • Narasimhan Nagan
  • Corey Braastad

  ACMG Policy Statement13 Jun 2011 Genetics in Medicine
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  Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

  • Jill S Goldman
  • Susan E Hahn
  • Thomas Bird

  ACMG Practice Guideline16 May 2011 Genetics in Medicine

• Policy statement on folic acid and neural tube defects

  • Helga V Toriello
  • for the Policy and Practice Guideline Committee of the American College of Medical Genetics

  ACMG Practice Guideline5 May 2011 Genetics in Medicine
• 

  Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

  • Raymond Y Wang
  • Olaf A Bodamer
  • on behalf of the ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases

  ACMG Standards and Guidelines15 Apr 2011 Genetics in Medicine

• Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

  • Melanie Manning
  • Louanne Hudgins
  • for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline18 Oct 2010 Genetics in Medicine
• 

  Glycogen Storage Disease Type III diagnosis and management guidelines

  • Priya S Kishnani
  • Stephanie L Austin
  • Michael S Watson

  ACMG Practice Guideline1 Jul 2010 Genetics in Medicine

• Technical standards and guidelines for the diagnosis of biotinidase deficiency

  • Tina M Cowan
  • Miriam G Blitzer
  • A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines9 Jun 2010 Genetics in Medicine

• Laboratory guideline for Turner syndrome

  • Daynna J Wolff
  • Daniel L Van Dyke
  • A Working Group of the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines1 Jan 2010 Genetics in Medicine

• Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities

  • Linda D Cooley
  • James T Mascarello
  • A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines1 Dec 2009 Genetics in Medicine

• Screening for fetal aneuploidy and neural tube defects

  • Deborah A Driscoll
  • Susan J Gross
  • for the Professional Practice Guidelines Committee

  ACMG Practice Guideline1 Nov 2009 Genetics in Medicine

• Technical standards and guidelines: Prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements

  • Glenn E Palomaki
  • Jo Ellen S Lee
  • for the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines17 Aug 2009 Genetics in Medicine
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  Technical standards and guidelines for myotonic dystrophy type 1 testing

  • Thomas W Prior
  • on behalf of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines19 Jun 2009 Genetics in Medicine
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  ACMG practice guideline: Genetic evaluation of short stature

  • Laurie H Seaver
  • Mira Irons
  • on behalf of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee

  ACMG Practice Guideline2 Apr 2009 Genetics in Medicine

• Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

  • Carol L Clericuzio
  • Rick A Martin

  ACMG Practice Guideline1 Mar 2009 Genetics in Medicine
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  Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

  • Deborah Krakow
  • Ralph S Lachman
  • David L Rimoin

  ACMG Practice Guideline1 Feb 2009 Genetics in Medicine

• Carrier screening for spinal muscular atrophy

  • Thomas W Prior
  • for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Nov 2008 Genetics in Medicine

• Statement on guidance for genetic counseling in advanced paternal age

  • Helga V Toriello
  • Jeanne M Meck
  • for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Jun 2008 Genetics in Medicine
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  ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

  • C Sue Richards
  • Sherri Bale
  • the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines1 Apr 2008 Genetics in Medicine

• Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

  • G Bradley Schaefer
  • Nancy J Mendelsohn
  • the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Apr 2008 Genetics in Medicine

• Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin

  • David A Flockhart
  • Dennis O'Kane
  • On Behalf of the ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use

  ACMG Policy Statement1 Feb 2008 Genetics in Medicine

• Acylcarnitine profile analysis

  • Piero Rinaldo
  • Tina M Cowan
  • Dietrich Matern

  ACMG Standards and Guidelines1 Feb 2008 Genetics in Medicine

• Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population

  • Kristin G Monaghan
  • Gerald L Feldman
  • the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee

  ACMG Practice Guideline1 Jan 2008 Genetics in Medicine

• First trimester diagnosis and screening for fetal aneuploidy

  • Deborah A Driscoll
  • Susan J Gross
  • for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Jan 2008 Genetics in Medicine

• Carrier screening in individuals of Ashkenazi Jewish descent

  • Susan J Gross
  • Beth A Pletcher
  • for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Jan 2008 Genetics in Medicine

• Microarray analysis for constitutional cytogenetic abnormalities

  • Lisa G Shaffer
  • Arthur L Beaudet
  • A Working Group of the Laboratory Quality Assurance Committee of the American College of Medical Genetics

  ACMG Standards and Guidelines1 Sep 2007 Genetics in Medicine

• Use of array-based technology in the practice of medical genetics

  • Melanie Manning
  • Louanne Hudgins

  ACMG Practice Guideline1 Sep 2007 Genetics in Medicine

• Indications for genetic referral: a guide for healthcare providers

  • Beth A Pletcher
  • Helga V Toriello
  • Susan J Gross

  ACMG Practice Guideline1 Jun 2007 Genetics in Medicine
• 

  Genetic evaluation of suspected osteogenesis imperfecta (OI)

  • Peter H Byers
  • Deborah Krakow
  • Melanie Pepin

  ACMG Practice Guideline1 Jun 2006 Genetics in Medicine
• 

  Pompe disease diagnosis and management guideline

  • Priya S Kishnani
  • Robert D Steiner
  • ACMG Work Group on Management of Pompe Disease

  ACMG Practice Guideline1 May 2006 Genetics in Medicine

• Preconception and prenatal testing of biologic fathers for carrier status

  • Beth A Pletcher
  • Maureen Bocian

  ACMG Practice Guideline1 Feb 2006 Genetics in Medicine

• American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

  • Lisa G Shaffer
  • on behalf of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Nov 2005 Genetics in Medicine

• Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders

  • Anne Maddalena
  • Sherri Bale
  • the ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines1 Oct 2005 Genetics in Medicine

• Fragile X syndrome: Diagnostic and carrier testing

  • Stephanie Sherman
  • Beth A Pletcher
  • Deborah A Driscoll

  ACMG Standards and Guidelines1 Oct 2005 Genetics in Medicine

• Section E6 of the ACMG technical standards and guidelines: Chromosome studies for acquired abnormalities

  • Betsy Hirsh
  • Arthur R Brothman
  • Daynna J Wolff

  ACMG Standards and Guidelines1 Sep 2005 Genetics in Medicine

• Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

  • Elaine B Spector
  • Wayne W Grody
  • C Sue Richards

  ACMG Standards and Guidelines1 Jul 2005 Genetics in Medicine

• Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories

  • Glenn E Palomaki
  • Linda A Bradley
  • ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines1 May 2005 Genetics in Medicine

• Technical standards and guidelines: Prenatal screening for open neural tube defects: This new section on “Prenatal Screening for Open Neural Tube Defects,” together with the new section on “Prenatal Screening for Down Syndrome,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories

  • Linda A Bradley
  • Glenn E Palomaki
  • ACMG Laboratory Quality Assurance Committee

  ACMG Standards and Guidelines1 May 2005 Genetics in Medicine

• Folic acid and neural tube defects

  • Helga V Toriello
  • for the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Apr 2005 Genetics in Medicine

• Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy

  • Deborah A Driscoll
  • the Professional Practice and Guidelines Committee

  ACMG Practice Guideline1 Nov 2004 Genetics in Medicine

• Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

  • Michael S Watson
  • Garry R Cutting
  • Wayne W Grody

  ACMG Policy Statement1 Sep 2004 Genetics in Medicine

• Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003

  • Robert E Grier
  • William A Gahl
  • Piero Rinaldo

  ACMG Policy Statement1 Jan 2004 Genetics in Medicine

• ACMG Statement on Direct-to-Consumer Genetic Testing

  • American College of Medicine Genetics Board of Directors

  ACMG Policy Statement1 Jan 2004 Genetics in Medicine

• Standards and Guidelines for CFTR Mutation Testing

  • Carolyn Sue Richards
  • Linda A Bradley
  • Michael S Watson

  ACMG Policy Statement1 Sep 2002 Genetics in Medicine
• 

  Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

  • Genetic Evaluation of Congenital Hearing Loss Expert Panel

  ACMG Policy Statement1 May 2002 Genetics in Medicine

• Points to Consider in Preventing Unfair Discrimination Based on Genetic Disease Risk: A Position Statement of the American College of Medical Genetics

  • Michael S Watson
  • Carol L Greene

  ACMG Policy Statement1 Nov 2001 Genetics in Medicine

• Genetics and Managed Care: Policy Statement of the American College of Medical Genetics

  • Marc S Williams

  ACMG Policy Statement1 Nov 2001 Genetics in Medicine
• 

  Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

  • Anne Maddalena
  • Carolyn Sue Richards
  • Daynna J Wolff

  ACMG Policy Statement1 May 2001 Genetics in Medicine
• 

  American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

  • Lisa G Shaffer
  • Noelle Agan
  • Suzanne B Cassidy

  ACMG Policy Statement1 May 2001 Genetics in Medicine

• Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

  • Wayne W Grody
  • Garry R Cutting
  • (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG)

  ACMG Policy Statement1 Mar 2001 Genetics in Medicine

• American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing

  • Wayne W Grody
  • John H Griffin
  • (ACMG Factor V Leiden Working Group)

  ACMG Policy Statement1 Mar 2001 Genetics in Medicine

• Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations: Test and Technology Transfer Committee

  ACMG Policy Statement1 Nov 2000 Genetics in Medicine

• Guidelines for expert witness testimony for the specialty of medical genetics: Social, Ethical and Legal Issues Committee, American College of Medical Genetics

  ACMG Practice Guideline1 Nov 2000 Genetics in Medicine

• Informed consent for medical photographs

  • Dysmorphology Subcommittee of the Clinical Practice Committee, American College of Medical Genetics

  ACMG Policy Statement1 Nov 2000 Genetics in Medicine

• Genetics testing for colon cancer: Joint statement of the American College of Medical Genetics and American Society of Human Genetics: Joint Test and Technology Transfer Committee Working Group

  ACMG Policy Statement1 Nov 2000 Genetics in Medicine

• Tandem mass spectrometry in newborn screening: American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group

  ACMG Policy Statement1 Jul 2000 Genetics in Medicine

• Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening

  ACMG Policy Statement1 Mar 2000 Genetics in Medicine

• American College of Medical Genetics position statement on gene patents and accessibility of gene testing

  ACMG Policy Statement1 Jul 1999 Genetics in Medicine

• Duty to re-contact

  ACMG Policy Statement1 May 1999 Genetics in Medicine

• Statement on folic acid: fortification and supplementation

  ACMG Policy Statement1 Nov 1998 Genetics in Medicine