The contribution of new molecular biological methods is extremely important to help early and accurate diagnosis in rare diseases. Molecular testing plays an important role in paving the way for accurate diagnosis and appropriate treatment of potentially undiagnosed rare diseases. By detecting the underlying genetic defect, the chance of establishing the correct diagnosis is higher than by clinical examination alone.
A fast and reliable diagnostic process can be achieved with EpiRARE's efficient methodology to detect variants, including bioinformatics analysis, variant prioritization and elucidation of pathogenicity mechanisms.
The vast majority of rare diseases are caused by variants in the coding regions of the genome. For the discovery of these variants, the coding regions of the genome are sequenced with Whole Exome Sequencing, which is one of the new generation sequencing technologies, genetic variants are identified with advanced bioinformatics methods, annotation is performed, variants are filtered according to the inheritance pattern, prioritized and reported with the EpiRARE algorithm according to the patient's symptoms.