At LabGenetics we offer more than 500 panels per exome, for which we have selected clinically relevant genes with known association to different pathologies. These panels have been designed and updated based on the most recent and relevant scientific information, thus allowing us to perform genetic studies with higher diagnostic performance and specificity, minimizing accidental findings unrelated to the patient’s phenotype and improving differential diagnosis. We have the latest technology in our field, with the use of the latest generation sequencers (NextSeq1000), obtaining a coverage of over 99% in most panels, and an average depth >300x, performing simultaneous sequencing and detection of copy number variations (CNVs – deletions and duplications). In addition to sample analysis, we also perform variant interpretation in accordance with international guidelines, and issue complete genetic reports, including clinical and biological interpretation of the variants detected, updated bibliographic references and a specific section on Genetic Counseling, focused on both patients and family members.
