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
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The second edition Telomere Biology Disorders: Diagnosis and Management Guidelines have been officially published. This…
To help raise awareness of rare disease dyskeratosis congenita, and other telomere biology disorders caused…