title: Development of genomic reference materials for Huntington disease genetic testing.
abstract: OBJECTIVE
  Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging, and is complicated by the lack of quality control and reference materials (RM). The aim of this study was to characterize genomic DNA from 14 Huntington cell lines available from the National Institute of General Medical Sciences Human Genetic Cell Repository at the Coriell Cell Repositories for use as reference materials for CAG repeat sizing.
  
  
  METHODS
  Fourteen Huntington cell lines were selected for study. The alleles in these materials represent a large range of sizes that include important diagnostic cutoffs and allele combinations. The allele measurement study was conducted by ten volunteer laboratories using a variety of polymerase chain reaction-based in-house developed methods and by DNA sequence analysis.
  
  
  RESULTS
  The Huntington alleles in the 14 genomic DNA samples range in size from 15 to 100 CAG repeats. There was good agreement among the ten laboratories, and thus, the 95% confidence interval was small for each measurement. The allele size determined by DNA sequence analysis agreed with the laboratory developed tests.
  
  
  CONCLUSIONS
  These DNA materials, which are available from Coriell Cell Repositories, will facilitate accurate and reliable Huntington genetic testing.
authors: Laboratory Practice Evaluation and Genomics Branch, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. LKalman@cdc.gov
authors: Lisa
authors: L
authors: Kalman
authors: Monique A
authors: MA
authors: Johnson
authors: Jeanne
authors: J
authors: Beck
authors: Elizabeth
authors: E
authors: Berry-Kravis
authors: Arlene
authors: A
authors: Buller
authors: Brett
authors: B
authors: Casey
authors: Gerald L
authors: GL
authors: Feldman
authors: James
authors: J
authors: Handsfield
authors: John P
authors: JP
authors: Jakupciak
authors: Samantha
authors: S
authors: Maragh
authors: Karla
authors: K
authors: Matteson
authors: Kasinathan
authors: K
authors: Muralidharan
authors: Kristy L
authors: KL
authors: Richie
authors: Elizabeth M
authors: EM
authors: Rohlfs
authors: Frederick
authors: F
authors: Schaefer
authors: Tina
authors: T
authors: Sellers
authors: Elaine
authors: E
authors: Spector
authors: C Sue
authors: CS
authors: Richards
mesh_terms: D002460:Cell Line; D005820:Genetic Testing / Q000592:standards*; D015894:Genome, Human; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis*; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D012015:Reference Standards; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins