What type of study is this?

This is a In Vitro Study study.

September 10, 2025Scientific ReportsOpen Access

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders

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Analysis reveals telomerase activity differentiates pathogenic variants in telomere biology disorders, suggesting clinical utility.

Lower telomerase activity in T-cells was found in patients with certain genetic variants, supporting pathogenicity.
Telomerase activity was quantitatively assessed with a combination of the TRAP method and qPCR techniques.
Functional analysis of telomerase activity could potentially reduce the number of variants classified as uncertain in clinical diagnostics.
The results highlight the need for further evaluation of genetic variants associated with telomere biology disorders.

Carlund et al. (2025) studied this question.

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