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A microarray platform for highly parallel CFTR SNP analysis, with simultaneous screening of up to 100 SNPs

Based on the fact that current commercially available CF screening products typically detect upto a maximum of only 25 CFTR mutations, the CF-CHIP SNP chip sought to take advantage of the highly parallel opportunities of microarray-based SNP analysis.

Therefore, instead of adopting the approach of selecting a panel of mutaions appropriate to a specific region, a panel of 100 mutations was selected which would have global application. The 100 CFTR-SNP microarray platform is based on the primer extension approach, and has been validated where possible using real patient samples, and in cases of extremely rare mutations where no patient samples were accessible, using synthetic oligonucleotides to simulate the mutations.

The technology has performed to 99% accuracy, and provides an alternative to current commercially available platforms for detection of CFTR mutaions as a means of early diagnosis of CF, or for screening for CF carriers.

Informations connexes

Reported by

Tyndall National Institute
Lee Maltings, Prospect Row
- Cork