At LabGenetics, we offer Whole Exome Sequencing (WES) through the analysis of more than 19,000 genes, providing a personalized service tailored to each patient’s phenotype.
The Whole Exome Sequencing (WES) test includes NGS analysis of 19,396 genes associated with a wide range of 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 also offer a Whole Exome Sequencing (WES) TRIO + mitochondrial DNA (mtDNA) service, which includes the simultaneous analysis of the proband (child) and both parents (mother and father). This approach allows for more accurate genetic interpretation by facilitating the identification of de novo variants and improving the detection of inherited alterations associated with the condition under study.
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 highly accurate results.
In addition to sample analysis, we provide expert 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 Genetic Counseling section, designed to support both patients and their families.
