Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations

Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although CF occurs with the highest incidence in Caucasians, it also occurs in other ethnicities with variable fre-quency. Recent national guidelines suggest that all couples contemplating pregnancy should be in-formed of molecular screening for CF carrier status for purposes of genetic counseling. Commercially available CF carrier screening panels offer a limited panel of mutations, however, making them insuffi-ciently sensitive for certain groups within an ethni-cally diverse population. This discrepancy is even more pronounced when such carrier screening pan-els are used for diagnostic purposes. By means of arrayed primer extension technology, we have de-signed a genotyping microarray with 204 probe sites for CF transmembrane conductance regulator gene mutation detection. The arrayed primer extension ar-ray, based on a platform technology for disease de-tection with multiple applications, is a robust, cost-effective, and easily modifiable assay suitable for CF carrier screening and disease detection. (J Mol Di-agn 2005, 7:375–387) Cystic fibrosis (CF) is a severe, common autosomal recessive disease due to mutations in the cystic fibro-sis transmembrane conductance regulator (CFTR) gene (OMIM number *602421