Telomeropathies Service

Telomeropathies are rare diseases characterized by premature telomere shortening. Among them are diskeratosis congenita and some cases of pulmonary fibrosis and aplasic anemia. In this service the performance of several assays for the molecular diagnosis and characterization of the patients is offered. Some of these assays are the determination of telomere length and the search for possible pathogenic gene variants.

Telomeres are protective structures located at the end of the chromosomes. Their length decreases with the age of the organisms being this one of the causes of ageing. Some rare diseases (telomeopathies) are characterized by premature shortening of the telomeres due to the presence of mutations in genes coding for proteins involved in telomere maintenance. Among these diseases are dyskeratosis congenita and some cases of aplasic anemia and idiopatic pulmonary fibrosis.

Diagnosis of these diseases is complex and requires molecular tests that are offered in this service. One of the tests is the determination of telomere length from blood or oral samples. The presence of excessively shortened telomeres is an important diagnostic criterion in these patients. In addition, the search of possible genetic mutations by exome sequencing of samples from the patients and close relatives is offered in the service.

The possible genetic variants are further tested by Sanger sequencing. The offered services are required for diagnosis of the patients and genetic advice of their relatives.



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