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Whole Exome

At LabGenetics we offer the Complete Exome study, through the analysis of more than 19,000 genes. We provide a personalized analysis service, directed to the phenotype of each patient. We have the latest technology in our field, with the use of next-generation sequencers (NextSeq1000), obtaining a coverage of over 99% and an average depth >300x, performing simultaneous sequencing and detection of copy number variations (CNVs – deletions and duplications). In addition to the analysis of the samples, we also perform the interpretation of variants 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 of Genetic Counseling, focused on both patients and relatives.

What we offer at LabGenetics:

  • Simultaneous analysis of more than 19,000 genes of interest.
  • Average depth >300x and coverage greater than 99%.
  • Detection of SNVs, InDels and CNVs by capture probes (coding region +/- 5 bp).
  • Interpretation of variants and issuance of genetic reports.
  • Possibility of reanalysis.

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