Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.
OBJECTIVE
To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications.


METHODS
We have developed a high-resolution comparative genomic hybridization array to detect single- and multiexon deletions and duplications in a large set of genes on a single microarray, using the NimbleGen 385K array with an exon-centric design.


RESULTS
We have successfully developed, validated, and implemented a targeted gene comparative genomic hybridization arrays for detecting single- and multiexon deletions and duplication in autosomal and X-linked disease-associated genes.


CONCLUSIONS
The comparative genomic hybridization arrays can be adopted readily by clinical molecular diagnostic laboratories as a rapid, cost-effective, highly sensitive, and accurate approach for the detection of single- and multiexon deletions or duplications, particularly in cases where direct sequencing fails to identify a mutation.
Tayeh
Marwan K
MK
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Chin
Ephrem L H
EL
Miller
Vanessa R
VR
Bean
Lora J H
LJ
Coffee
Bradford
B
Hegde
Madhuri
M
D001483:Base Sequence; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D017353:Gene Deletion; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D015203:Reproducibility of Results