ACMG Technical Standard

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

• Rong Mao
• Patti Krautscheid
• Madhuri Hegde

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
• Fady M. Mikhail

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

• Catherine Rehder
• Lora J. H. Bean
• Lisa M. Vincent

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

• Elaine Spector
• Andrea Behlmann
• Honey V. Reddi

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
• Sarah Young

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

• Joshua L. Deignan
• Caroline Astbury
• Sue Richards

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
• Nancy Braverman

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
• Pinar Bayrak-Toydemir

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
• Robert G. Best

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

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

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
• Adviye A. Tolun

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
• C. Sue Richards

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
• Qin Sun