title: Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
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.
authors.affiliation: Division of Laboratory Systems, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, G23, Atlanta, GA 30329-4018, USA. sbarker@cdc.gov
authors.forename: Shannon D
authors.initials: SD
authors.lastname: Barker
authors.forename: Sherri
authors.initials: S
authors.lastname: Bale
authors.forename: Jessica
authors.initials: J
authors.lastname: Booker
authors.forename: Arlene
authors.initials: A
authors.lastname: Buller
authors.forename: Soma
authors.initials: S
authors.lastname: Das
authors.forename: Kenneth
authors.initials: K
authors.lastname: Friedman
authors.forename: Andrew K
authors.initials: AK
authors.lastname: Godwin
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
authors.forename: Edward
authors.initials: E
authors.lastname: Highsmith
authors.forename: Jeffery A
authors.initials: JA
authors.lastname: Kant
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
authors.forename: Kristin G
authors.initials: KG
authors.lastname: Monaghan
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Payne
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Pratt
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
authors.forename: Antony E
authors.initials: AE
authors.lastname: Shrimpton
authors.forename: Elaine
authors.initials: E
authors.lastname: Spector
authors.forename: Milhan
authors.initials: M
authors.lastname: Telatar
authors.forename: Lorraine
authors.initials: L
authors.lastname: Toji
authors.forename: Karen
authors.initials: K
authors.lastname: Weck
authors.forename: Barbara
authors.initials: B
authors.lastname: Zehnbauer
authors.forename: Lisa V
authors.initials: LV
authors.lastname: Kalman
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D002460:Cell Line; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D012015:Reference Standards; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human