qGenEx® WES

whole exome sequencing

Since 2011, when we started offering NGS analysis to our collaborators, it was clear to us that the complete exome sequencing (WES) represents the most reliable and cost-efficient option to reach a diagnosis, both at the time of sequencing and over the years.

We use Illumina’s sequencing technology and guarantee an average coverage >50x
and for more than 95% of the coding regions a coverage >15x

Sequencing of the complete exome adapted to every needs:
qGenEx® Basic

Raw sequence data in FASTQ format and quality data analysis

qGenEx® Research

Basic Service + full report with annotation and prioritization of variants

qGenEx® Complete

Research Service + validation of findings + segregation study

Sequencing data remains available for possible future reanalysis at no additional cost

5% of cases are solved when analyzing Clinvar coding regions

Detection of copy number variants (CNVs)

qGenEx – Directed paneles

We carry out the capture and sequencing of the complete exome and apply a filter to analyse groups of genes, including the OMIM gene group (mendelioma or clinical exome) that are related to specific pathologies.

This approach has 3 key advantages:
  • The reduction of computing and analysis time allows us to lower cost and final prices.
  • The data of the whole exome sequence are already generated, allowing the extension of the study to any gene or group of genes, or extend the search to the entire exome in case of a negative result of the first directed approach.
  • It allows for reanalysis of new candidate genes that may be described in the future without the need for re-sequencing.
Turn-around time: 40 working days from sample reception.

qGenEx – TRÍO

In case of an urgently required diagnosis, when you would like to save time (and also money for subsequent validations), we offer the possibility of studying the exome of the index case and its parents in the same experiment. This way we automatically know if variants are de novo or inherited and which parent has transmitted each of the variants we find in the index case.

qGenEx® – Somatic

This service is focused on the study of tumors and consists of the combined study of tumor and peripheral blood of the patient, with the aim of identifying mutations that have appeared in the tumor, and that may be directing their progression.

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Personalized studies using NGS technology
Bioinfomatic analysis and scientific consulting
We provide customized solutions to transfer NGS to your hospital unit