Telomere Biology Disorders

Chromosomes have protective structures located at their ends called telomeres. These telomeres normally shorten as a person gets older. In some individuals the length is abnormally short or the shortening process is accelerated (in some cases both issues can occur). A telomere length analysis test is a blood test that measures the length of the telomeres, and the information collected is used to confirm a diagnosis when a person has signs or symptoms that may be due to a telomere deficiency.

Inherited deficiencies where telomere analysis is used in clinical diagnosis include bone marrow failure, dyskeratosis congenita, aplastic anemia, acute myeloid leukemia, immune deficiencies, and pulmonary fibrosis. These defects may be caused by unknown stressors or inherited deficiencies in genes involved in telomere maintenance or telomere biology. Other medical conditions where telomere length investigations and ongoing research may benefit clinical care include chronic lymphocytic leukemia and cardiovascular diseases.

Our Telomere Testing Technology

The Flow FISH telomere length measurements used by RepeatDx have been shown to be valuable as a screening test for inherited telomere biology disorders resulting from mutations in specific genes. Flow FISH analysis has the unique advantage over other telomere length protocols by providing information on a variety of cell types from one blood sample. Fluorescent signals from telomeres are assessed on a single cell basis by flow cytometry, with patient results reported for lymphocytes, granulocytes, B-cells, naïve and memory T-cells, and NK cells.

All patient telomere length profiles are reported in relationship to age-matched controls and are available for all age ranges from pediatric to geriatric. This telomere reference curve was established by the study of over 800 healthy individuals between birth and 100 years of age. This more informative technique allows analysis and comparisons of the telomere length between different cell types and within one cell type, e.g. in differentiating between constitutional deficiencies and specific cell type deficiencies. Such studies have shown that the telomere length declines with age, and follows distinct patterns in T-cells, B-cells and hematopoietic precursor cells. Longitudinal studies of hematopoietic stem cell transplantation have shown a rapid telomere length decline in the first year after transplant followed by stabilization.

Telomere Research at RepeatDx

The need for telomere length measurements in clinical and other research studies is rapidly increasing. In order to support scientists in their efforts to advance the field of telomere biology, RepeatDx is actively seeking partnerships. In addition to performing Flow FISH telomere testing, RepeatDx can help in areas of grant support and provide special discounts for multi-sample research contracts.

For more information on research collaborations please contact us.