The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

ABSTRACT:

Background

Telomere length <1st percentile-for-age in leukocyte subsets by flow cytometry with fluorescence in situ hybridization (flow FISH) is highly sensitive and specific in diagnosing patients with dyskeratosis congenita (DC), a telomere biology disorder.

Methods

We evaluated the clinical utility of the high-throughput quantitative real-time PCR (qPCR) relative telomere length (RTL) measurement as a diagnostic test for DC in patients with a priori clinical and/or genetic DC diagnoses. We calculated the sensitivity and specificity of RTL at different age-specific percentile cutoffs in 31 patients with DC and 51 mutation-negative relatives, and evaluated RTL difference by disease genotype.

Results

qPCR RTL <1st percentile-for-age failed to identify more than 60% of

SUBMITTER: Gadalla SM 

PROVIDER: S-EPMC4947866 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature