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, W Edward Jr. 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 journalArticle

9 Citations (Scopus)

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

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Genetic Testing
DNA
Materials Testing
Huntington Disease
Centers for Disease Control and Prevention (U.S.)
Cystic Fibrosis
Quality Control
Genotype
Technology
Cell Line
Mutation
Population
Genes

ASJC Scopus subject areas

  • Molecular Medicine
  • Pathology and Forensic Medicine

Cite this

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. / Barker, Shannon D.; Bale, Sherri; Booker, Jessica; Buller, Arlene; Das, Soma; Friedman, Kenneth; Godwin, Andrew K.; Grody, Wayne W.; Highsmith, W Edward Jr.; Kant, Jeffery A.; Lyon, Elaine; Mao, Rong; Monaghan, Kristin G.; Payne, Deborah A.; Pratt, Victoria M.; Schrijver, Iris; Shrimpton, Antony E.; Spector, Elaine; Telatar, Milhan; Toji, Lorraine; Weck, Karen; Zehnbauer, Barbara; Kalman, Lisa V.

In: Journal of Molecular Diagnostics, Vol. 11, No. 6, 11.2009, p. 553-561.

Research output: Contribution to journalArticle

Barker, SD, Bale, S, Booker, J, Buller, A, Das, S, Friedman, K, Godwin, AK, Grody, WW, Highsmith, WEJ, Kant, JA, Lyon, E, Mao, R, Monaghan, KG, Payne, DA, Pratt, VM, Schrijver, I, Shrimpton, AE, Spector, E, Telatar, M, Toji, L, Weck, K, Zehnbauer, B & Kalman, LV 2009, 'Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing', Journal of Molecular Diagnostics, vol. 11, no. 6, pp. 553-561. https://doi.org/10.2353/jmoldx.2009.090078
Barker, Shannon D. ; Bale, Sherri ; Booker, Jessica ; Buller, Arlene ; Das, Soma ; Friedman, Kenneth ; Godwin, Andrew K. ; Grody, Wayne W. ; Highsmith, W Edward Jr. ; Kant, Jeffery A. ; Lyon, Elaine ; Mao, Rong ; Monaghan, Kristin G. ; Payne, Deborah A. ; Pratt, Victoria M. ; Schrijver, Iris ; Shrimpton, Antony E. ; Spector, Elaine ; Telatar, Milhan ; Toji, Lorraine ; Weck, Karen ; Zehnbauer, Barbara ; Kalman, Lisa V. / Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. In: Journal of Molecular Diagnostics. 2009 ; Vol. 11, No. 6. pp. 553-561.
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AU - Friedman, Kenneth

AU - Godwin, Andrew K.

AU - Grody, Wayne W.

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AU - Lyon, Elaine

AU - Mao, Rong

AU - Monaghan, Kristin G.

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AU - Schrijver, Iris

AU - Shrimpton, Antony E.

AU - Spector, Elaine

AU - Telatar, Milhan

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AU - Kalman, Lisa V.

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