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INFO
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Flow-FISH measurements have been shown to be valuable as a screening test for inherited telomere maintenance deficiencies resulting from mutations in dyskerin, telomerase RNA (hTERC), telomerase reverse transcriptase (hTERT) and other genes. Deficiencies in these genes are known to predispose to a variety of clinical disorders including forms of aplastic anemia, pulmonary fibrosis, liver cirrhosis and dyskeratosis congenita. Distinction between acquired and inherited factors contributing to these and other diseases is important for prognosis and therapeutic considerations. To get a general idea whether telomere length has been affected, we offer the BASIC PROCEDURE. This procedure provides measurements of telomere length for total lymphocyte and granulocyte populations. In more specialized situations, however, this procedure may not be informative enough. E.g. in most aplastic anemia patients, the granulocyte telomere lengths will be low and lymphocytes may be borderline. When testing patients with diseases related to mutations in telomere maintenance genes, the DIAGNOSTIC PROCEDURE is more appropriate. With this procedure, telomere lengths are measured not only for total lymphocyte and granulocyte populations, but also for B-cells, T-cells and NK cells. |
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