NGS Sequencing & Next-Generation Cytogenetics
By Anne Legrand, Aicha Boughalem, and Detlef Trost
NGS sequencing is a widely used diagnostic tool for identifying variants responsible for rare genetic diseases. Whole exome sequencing (22,000 genes of the human genome) by NGS is increasingly being integrated into diagnostic strategies.
In 2023, Cerba laboratory equipped itself with new sequencers that provide unprecedented quality with a Q40 rating, opening new perspectives for clinical diagnostics in genetic disorders. Regular updates of gene panels, covering a wide range of medical specialties (e.g., neurology, nephrology, cardiology...), are now also possible.
NGS has revealed sequence variations responsible for many diseases, but a significant number of patients remain undiagnosed to this day. For these patients, optical genome mapping (OGM) offers a new diagnostic approach, particularly useful for reproductive disorders, developmental delay, and rare diseases.
This new cytogenetic test provides highly detailed information on chromosomal structure and significantly improves resolution compared to karyotyping (x10,000), DNA microarrays, and FISH.
