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Rare diseases

People with rare diseases in our country are forgotten by all of us, and the problems and obstacles they are fighting are huge and affect greatly their quality of life. Accurate and precise diagnosis is an initial step that is crucial when dealing with rare diseases. In the past decade, NGS technologies and advanced modern tools for interpreting data derived from NGS significantly accelerated the rate of identification of genes and genetic variants that cause rare genetic diseases and they complement each other on a daily basis. The discovery of these genes and genetic variations allowed for the establishment of appropriate diagnoses, better prognosis and easier management of the disease, precise reproductive genetic counseling and most likely the possibility of developing effective new therapies. NGS diagnostics of rare diseases begins to be integrated slowly in clinical practice. Depending on each individual case, in our laboratory we offer either genome or exome sequencing or more focused sequencing of selected gene panels that are strongly associated with the disease.