Presentation

SERVICE FOR THE GENETIC ANALYSES OF THE DYSKERATOSIS CONGENITA, APLASTIC ANEMIA AND IDIOPATHIC PULMONARY FIBROSIS DISEASES
This Service provides to the National Health System and national and international private centers for genetic diagnosis a highly specialized platform for the study of telomere length and the analyses of gene sequence variants associated to telomere shortening diseases, such as dyskeratosis congenita, aplastic anemia and idiopathic pulmonary fibrosis.
Presently the service receives patient samples from more than twenty hospitals from the National Health System. Many patients are pediatric although most Idiopathic Pulmonary Fibrosis patients are adults. Telomere length is determined from all patients by quantitative PCR or Southern blot from DNA isolated from peripheral blood or buccal swabs. In those cases where telomere shortening is detected, if there is agreement with the physician that sent the samples, a genetic analysis is performed. The possible presence of pathogenic variants in genes coding for telomere associated genes is determined by exome sequencing.