Biochemical and Molecular Genetics Committee Topic Center

Genetics and Genetics-Related Journal Articles

The College of American Pathologists (CAP) committee's primary sources of biochemical genetics, molecular genetics, maternal screening, and pharmacogenetics expertise.

Resources and educational material in the field of genetics.

• A panoramic view of the accuracy of molecular genetic testing (Genetics in Medicine)
• Assessing the Analytic Validity of Molecular Testing for Huntington Disease Using Data From an External Proficency Testing Survey (PDF, 731 KB; Genetics in Medicine)
• Design and Analytical Validation of Clinical DNA Sequencing Assays (Archives of Pathology & Laboratory Medicine)
• Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists (Genetics in Medicine)
• Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys (Genetics in Medicine)
• Molecular Genetic Testing for Fragile X Syndrome (PDF, 418 KB; Genetics in Medicine)
• Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys (Genetics in Medicine)
• Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1 (Genetics in Medicine)
• Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population (Genetics in Medicine)
• Test Verification and Validation for Molecular Diagnostic Assays (Archives of Pathology & Laboratory Medicine)
• Three-Year Experience of a CAP/ACMG Methods-based External Proficiency Testing Program for Laboratories Offering DNA Sequencing for Rare Inherited Disorders (PDF, 1.2 MB; Genetics in Medicine)
• Screening for Down Syndrome in the United States (Archives of Pathology & Laboratory Medicine)
• Verification of Performance Specifications of a Molecular Test: Cystic Fibrosis Carrier Testing Using the Luminex Liquid Bead Array (Archives of Pathology & Laboratory Medicine)

Maternal Screening Resources

These resources provide maternal serum screening risk validation tools that can be used for Down syndrome risk verification, fetal size estimation, calculation of NT median equations, and evaluation of sonographer-specific parameters.

Related Links

These organizations offer additional resources on biochemical genetics, molecular genetics, and maternal screening.

• American College of Medical Genetics and Genomics
• The American Society for Human Genetics (the most comprehensive listing of online genetic resources)
• Association for Molecular Pathology
• Genetic Tools (GeneReviews and teaching cases)
• Human Genome Variation Society (mutation nomenclature)
• Online Mendelian Inheritance in Man

Join the Biochemical and Molecular Genetics and Genomics Medicine Committee

Learn more about our committee activities and how to join the Biochemical and Molecular Genetics and Genomics Committee.