Genetic diagnostics is an interdisciplinary field that bridges the gap between biological sciences and medical practice. With the collaborative effort of multiple scientific experts such as molecular biologists, genetisists and bioinformaticians, high-throughput DNA sequencing technologies are translated into clinically meaningful information crucial for prognosis, diagnosis and treatment of rare inherited health conditions.
Our Center has long expertise in human genetics research and diagnosis. The Diagnostics Laboratory offers clinical-grade DNA testing for a variety of phenotypes with the use of targeted gene panels, mitochondrial DNA and whole exome sequencing.
Results from Next-Generation Sequencing and capillary sequencing methodologies, are processed by bleeding edge bioinformatics tools applying international standards and guidelines (ACMG, ClinVar, HGMD®), thus offering accurate and holistic genetic screening. Clinically relevant genetic alterations are always orthogonally validated using Sanger DNA sequencing zeroing false positive findings.
With experience obtained from hundreds of processed cases referred to our Laboratory and with long-standing collaboration with leading clinitians in Cyprus, we are determined to deliver precise, confident and validated genetic diagnostics services.
