Diagnostic utility of telomere length testing in a hospital-based setting

TLDR

The study defines clinical indications for using telomere length measurement as a diagnostic tool in a hospital setting. Flow‑cytometry and FISH–based telomere length testing is standardized, reproducible, and establishes normal limits; in mutation carriers it predicts age of onset and complications, and in a prospective study it guided treatment in a quarter of idiopathic bone‑marrow‑failure cases, demonstrating that flowFISH informs patient care decisions in targeted hospital settings.

Abstract

Significance This study defines clinical indications for using telomere length (TL) measurement as a diagnostic tool in a hospital setting. It shows that, in contrast to other methods, TL measurement by flow cytometry and FISH (flowFISH) can be standardized, and has reproducible and definable upper and lower normal boundaries. In telomerase mutation carriers and carriers of other mutant telomere maintenance genes, TL had prognostic value, correlating with the age of onset of short telomere syndrome phenotypes, as well as the predominant complication. In a prospective study, TL results were actionable in one-fourth of cases with idiopathic bone marrow failure affecting the stem cell donor choice and/or treatment regimen. The data show that, for targeted clinical indications, and in a hospital setting, TL measurement by flowFISH informs patient care decisions.