Exome sequencing strategy aims at sequencing (after capturing) the whole coding portion of the human genome. As mutations in protein coding regions are responsible for 85% of known genetic diseases, exome sequencing is a powerful tool to identify them in clinical settings.
Although exome sequencing can still be considered a relatively expensive investigation procedure, the fact is that it is a cost-effective strategy for the detection of mutations in certain disorders. This is the case of patients with a clinical diagnosis of an heterogeneous genetic disease. The traditional approach to identify the causative mutation would follow a stepwise Sanger sequencing procedure of each of the candidate genes, which is extremely expensive in terms of time and budget. Among this group of diseases we can find the Bardet-Biedl syndrome, retinopathies, familial deafness, etc ... The identification of the causative mutation may have important implications in the final diagnosis and to provide a complete genetic counseling.
Exome sequencing services
We offer three different service levels to cover your needs:
- qGenEx® Basic
- informed consent + capture & sequencing + report of data quality + list of variants
- qGenEx® Research
- Basic Service + annotation and priorization of variants
- qGenEx® Complete
- Research Service + molecular validation of top variants using the most appropriate laboratory test (PCR, Sanger sequencing, RFLP, ...).