Why telomere length measurements?
Requests for telomere length measurements are typically from physicians curious to know whether the clinical problems of their patients could be related to cellular defects resulting from extremely short telomeres. These defects may be caused by unknown stressors or inherited deficiencies in genes involved in telomere maintenance. In part, this interest is driven by several recent peer-reviewed scientific publications (see below) showing that telomere length measured by flow FISH can be used to identify individuals with various forms of inherited telomerase deficiency and to distinguish carriers of mutations in telomerase genes and in genes encoding telomere binding proteins from individuals without such abnormalities. Apart from excluding inherited problems in telomere maintenance as a cause in bone marrow failure, dyskeratosis congenita, immune deficiencies, pulmonary fibrosis and cardiovascular diseases, telomere length information has also been used in the selection of siblings as
