The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

ConclusionsOur findings suggest that the qPCR RTL method is not optimal for diagnosing DC. In light of these limitations, leukocyte flow FISH telomere length remains the recommended molecular test for diagnosing DC. We conducted a study of the widely used, high throughput method of qPCR relative TL (RTL) to evaluate its diagnostic performance for dyskeratosis congenita. Our data show that RTL < 1st percentile for age failed to identify more than 60% of the patients (sensitivity=39%, specificity=98%). Test sensitivity improved when raising the cutoff point to the 10th percentile but this was at the expense of test specificity (sensitivity=74%, specificity=88%).
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research