Genomics for human health

Clinical Exome Sequencing

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, ...).