Shall we call them “telomere-mediated”? Renaming the idiopathic after the cause is found

Editorial Interstitial Lung Disease by Samantha J. Merck and Mary Armanios October 28, 2016. Over the past decade, it has become evident that abnormally short telomeres are a causal risk factor for pulmonary fibrosis in a large subset of patients. Mutations in the genes that code for the telomerase enzyme essential components are the most […]

6-panel TLM Assay Diagnostic Test of Choice in Identifying Ppatients with Dyskeratosis Congenita

Repeat Diagnostics’ 6-Panel telomere assay, is the diagnostic test of choice in identifying patients with Dyskeratosis Congenita (DC), an inherited bone marrow failure syndrome. Physicians from seven institutions including NCI and NIH reported that the QPCR relative measurement lacked sensitivity and would lead to misdiagnosis of 60% of known DC patients. Read more