Skip to main content
Hours: 8:00 to 19:00 Contact

Clinical exome

Our Expanded Clinical Exome includes the NGS analysis of 6,610 genes associated with different diseases, from which an analysis directed to the patient’s needs is performed, prioritizing those variants detected in genes related to the patient’s phenotype. We have the latest technology in our field, with the use of next-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 according to different 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.

What we offer in LabGenetics:

  • Simultaneous analysis of 6,610 genes of interest.
  • Average depth >300x and greater than 99% coverage on most panels.
  • Detection of SNVs, InDels and CNVs by capture probes (coding region +/- 5 bp).
  • Interpretation of variants and issuance of genetic reports.
  • Possibility of reanalysis.

The exome is the part of our DNA that includes the genes that express proteins, and which are clinically relevant because they are linked to diseases. This study allows us to identify mutations in these genes.

Exome sequencing allows us to make an early diagnosis of the genetic basis of the disease, which allows us to tackle it more effectively and with more information. In some cases, it will allow us to prevent adverse symptomatology and to be able to monitor the patient accordingly.

SEARCH BY DISEASE OR GENE

Search for diseases or genes