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Telomere length has been utilised as part of the diagnostic work-up of patients with these diseases; here, we have tested the utility of high-throughput STELA (HT-STELA) for this purpose. HT-STELA was applied to a cohort of unaffected individuals (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009171) and a retrospective cohort of mutation carriers (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009172). HT-STELA displayed a low measurement error with inter- and intra-assay coefficient of variance of 2.3% and 1.8%, respectively. Whilst telomere length in unaffected individuals declined as a function of age, telomere length in mutation carriers appeared to increase due to a preponderance of shorter telomeres detected in younger individuals (&lt;\u200920\u00a0years of age). These individuals were more severely affected, and age-adjusted telomere length differentials could be used to stratify the cohort for overall survival (Hazard Ratio\u2009=\u20095.6 (1.5\u201320.5);\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001). Telomere lengths of asymptomatic mutation carriers were shorter than controls (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001), but longer than symptomatic mutation carriers (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001) and telomere length heterogeneity was dependent on the diagnosis and mutational status. Our data show that the ability of HT-STELA to detect short telomere lengths, that are not readily detected with other methods, means it can provide powerful diagnostic discrimination and prognostic information. The rapid format, with a low measurement error, demonstrates that HT-STELA is a new high-quality laboratory test for the clinical diagnosis of an underlying telomeropathy.\n                  <\/jats:p>","DOI":"10.1007\/s00439-021-02257-4","type":"journal-article","created":{"date-parts":[[2021,3,11]],"date-time":"2021-03-11T14:02:45Z","timestamp":1615471365000},"page":"945-955","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders"],"prefix":"10.1007","volume":"140","author":[{"given":"Kevin","family":"Norris","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J.","family":"Walne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Ponsford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kez","family":"Cleal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia W.","family":"Grimstead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Ellison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna","family":"Alnajar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inderjeet","family":"Dokal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Vulliamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8408-5467","authenticated-orcid":false,"given":"Duncan M.","family":"Baird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,11]]},"reference":[{"key":"2257_CR1","doi-asserted-by":"publisher","first-page":"13051","DOI":"10.1073\/pnas.0804280105","volume":"105","author":"JK Alder","year":"2008","unstructured":"Alder JK et al (2008) Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 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AJW, MP, KC, AE, JA, ID and TV have no relevant conflict of interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}]}}