Next Generation Sequencing (NGS) allows the sequencing analysis, in a single test, of a gene, several genes (panel) or the whole exome.
This technology provided a breakthrough in genetic diagnostic yield, reducing turnaround time and cost. However, please note that not all options available offer the same coverage (percentage of evaluated target regions), coverage depth (number of times that a target region is sequenced or read) and, therefore, the same diagnostic yield.
CGC Genetics offers the best options for your patients:
CGC Genetics has available NGS panels for all medical specialties. NGS panels are regularly updated, always following clinical criteria. CGC Genetics may also assess the possibility of creating personalized panels, which may include a group of genes suggested by medical specialists.
Exome Sequencing by CGC Genetics combines the highest resolution available in the market with the clinical interpretation and integration by our specialized Medical Team.
CGC Genetics has available two Exome Sequencing options, to best fit with patient’s individual needs:
1. Whole Exome Sequencing (WES)
Whole Exome Sequencing (WES) entails the sequencing or “reading” of all genomic coding regions, i.e., the exons. WES analyzes the entire exome with sequencing of about 20 000 genes.
WES purpose is to obtain the highest possible amount of genetic information of a patient, using the most advanced technology currently available.
CGC Genetics recommends WES TRIO, i.e., performing WES in both the patient and its parents.
2. Disease Exome by CGC Genetics
Disease Exome by CGC Genetics is the largest sequencing panel available which includes more than 6 000 clinically relevant genes.
Disease exome is interpreted by our clinical geneticists, and thus provides a deep clinical integration of results.
Mitochondrial DNA Test
CGC Genetics offers a panel for detection of mitochondrial diseases, which includes full sequencing analysis by NGS of the whole mitochondrial genome.