Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples.

摘要

PURPOSE: To determine the accuracy of two commercially available kits for cystic fibrosis (CF) genotyping and determine allele frequencies for the ACMG/ACOG recommended mutations. METHODS: A total of 1,040 consecutive analyses using Roche CF Gold Strips and the ABI CF Genotyper were performed. Subsequently we performed analyses of 20,103 samples. RESULTS: Both kits accurately determined CF genotypes. The I148T mutation was found >100 times more frequently in carrier screening than in CF patients. Asymptomatic patients were identified who are compound heterozygotes for delta F508 and I148T. Four of 13 patients heterozygous for delta F508 and the IVS8-5T polymorphism had some symptoms of CF. CONCLUSION: Accurate and timely analysis can be performed for the ACMG CF panel. I148T is a low penetrance CF allele.