Our Clinical Exome includes NGS analysis of 6,610 genes associated with a wide range of diseases. Based on these results, a targeted analysis is performed according to the patient’s specific needs, prioritizing the variants identified in genes related to the patient’s phenotype.
The Expanded Clinical Exome includes NGS analysis of 7,971 genes associated with various diseases, as well as mitochondrial DNA (mtDNA). The study of mtDNA enables the detection of numerous mitochondrial disorders, particularly those related to impaired cellular energy production, such as Leigh Syndrome, Leber Hereditary Optic Neuropathy (LHON), MELAS Syndrome, MERRF Syndrome, and Kearns–Sayre Syndrome.
We employ the latest technology in our field, utilizing state-of-the-art sequencing platforms such as the NextSeq 2000. This enables us to achieve coverage exceeding 99% across most panels and an average sequencing depth of over 300×. Sequencing and the detection of copy number variations (CNVs—deletions and duplications) are performed simultaneously, ensuring comprehensive and accurate results.
In addition to sample analysis, we provide thorough variant interpretation in accordance with internationally recognized guidelines. We issue comprehensive genetic reports that include the clinical and biological interpretation of detected variants and their classification based on ACMG/ClinGen criteria. These reports also incorporate up-to-date bibliographic references and a dedicated section on Genetic Counseling, designed to support both patients and their families.
