title: Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
abstract: Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% have point mutations in one or more of the 79 exons of the dystrophin gene. Most clinical genetics laboratories test for deletions, and some use technologies that can detect smaller mutations and duplications. Reference and quality control materials for DMD/BMD diagnostic and carrier genetic testing are not commercially available. To help address this need, the Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing and the DMD/BMD patient communities and the Coriell Cell Repositories, have characterized new and existing cell lines to create a comprehensive DMD/BMD reference material panel. Samples from 31 Coriell DMD cell lines from male probands and female carriers were analyzed using the Affymetrix SNP Array 6.0 and Multiplex Ligation-Dependent Probe Amplification (MRC-Holland BV, Amsterdam, the Netherlands), a multiplex PCR assay, and DNA sequence analysis. Identified were 16 cell lines with deletions, 9 with duplications, and 4 with point mutations distributed throughout the dystrophin gene. There were no discordant results within assay limitations. These samples are publicly available from Coriell Institute for Medical Research (Camden, NJ) and can be used for quality assurance, proficiency testing, test development, and research, and should help improve the accuracy of DMD testing.
authors.affiliation: Division of Laboratory Science and Standards, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. LKalman@cdc.gov
authors.forename: Lisa
authors.initials: L
authors.lastname: Kalman
authors.forename: Jay
authors.initials: J
authors.lastname: Leonard
authors.forename: Norman
authors.initials: N
authors.lastname: Gerry
authors.forename: Jack
authors.initials: J
authors.lastname: Tarleton
authors.forename: Christina
authors.initials: C
authors.lastname: Bridges
authors.forename: Julie M
authors.initials: JM
authors.lastname: Gastier-Foster
authors.forename: Robert E
authors.initials: RE
authors.lastname: Pyatt
authors.forename: Eileen
authors.initials: E
authors.lastname: Stonerock
authors.forename: Monique A
authors.initials: MA
authors.lastname: Johnson
authors.forename: C Sue
authors.initials: CS
authors.lastname: Richards
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
authors.forename: Tianhui
authors.initials: T
authors.lastname: Ma
authors.forename: Vanessa Rangel
authors.initials: VR
authors.lastname: Miller
authors.forename: Yetsa
authors.initials: Y
authors.lastname: Adadevoh
authors.forename: Pat
authors.initials: P
authors.lastname: Furlong
authors.forename: Christine
authors.initials: C
authors.lastname: Beiswanger
authors.forename: Lorraine
authors.initials: L
authors.lastname: Toji
mesh_terms: D002353:Carrier State; D002460:Cell Line; D005260:Female; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D008297:Male; D046228:Microarray Analysis / Q000379:methods / Q000592:standards; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D011786:Quality Control; D012015:Reference Standards; D017422:Sequence Analysis, DNA / Q000379:methods