Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing

Shannon D. Barker, Sherri Bale, Jessica Booker, Arlene Buller, Soma Das, Kenneth Friedman, Andrew K. Godwin, Wayne W. Grody, Edward Highsmith, Jeffery A. Kant, Elaine Lyon, Rong Mao, Kristin G. Monaghan, Deborah A. Payne, Victoria M. Pratt, Iris Schrijver, Antony E. Shrimpton, Elaine Spector, Milhan Telatar, Lorraine TojiKaren Weck, Barbara Zehnbauer, Lisa V. Kalman

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Well-characterized reference materials (RMs) are integral in maintaining clinical laboratory quality assurance for genetic testing. These RMs can be used for quality control, monitoring of test performance, test validation, and proficiency testing of DNA-based genetic tests. To address the need for such materials, the Centers for Disease Control and Prevention established the Genetic Testing Reference Material Coordination Program (GeT-RM), which works with the genetics community to improve public availability of characterized RMs for genetic testing. To date, the GeT-RM program has coordinated the characterization of publicly available genomic DNA RMs for a number of disorders, including cystic fibrosis, Huntington disease, fragile X, and several genetic conditions with relatively high prevalence in the Ashkenazi Jewish population. Genotypic information about a number of other cell lines has been collected and is also available. The present study includes the development and commutability/genotype characterization of 10 DNA samples for clinically relevant mutations or sequence variants in the following genes: MTHFR; SERPINA1; RET; BRCA1; and BRCA2. DNA samples were analyzed by 19 clinical genetic laboratories using a variety of assays and technology platforms. Concordance was 100% for all samples, with no differences observed between laboratories using different methods. All DNA samples are available from Coriell Cell Repositories and characterization information can be found on the GeT-RM website.

Original languageEnglish (US)
Pages (from-to)553-561
Number of pages9
JournalJournal of Molecular Diagnostics
Volume11
Issue number6
DOIs
StatePublished - Nov 2009

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

Fingerprint Dive into the research topics of 'Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing'. Together they form a unique fingerprint.

Cite this