In order to establish a genetic diagnosis, it’s essential to have a reliable analytical validation system available. Using this system we are able to ensure the reproductivity and consistency of the algorithms used and achieve optimum quality in our results.

In our laboratory we follow recommendations established by groups of experts such as The Association for Molecular Pathology and College of American Pathologists, The Association for Clinical Genetic Science, EuroGentest Validation Group and The American College of Medical Genetics and Genomics.

As well as the validation process prior to the incorporation of any kind of genetic study in the laboratory routine, we also participate annually in external quality control programs (EMQN, GenQA y UK NEQAS). This allows us to maintain a commitment of high standard for all of our results.

With the usage of softwares and pipelines previously defined and validated, we are capable of detecting genetic variants such as single nucleotide variants (SNVs), small deletions/duplications (INDELs) and large deletions/duplications (CNVs).

Clinical sensitivity is another one of the parameters fundamental to the validation of the analysis and the quality of the genetic diagnosis. All of our analyses have been designed by our clinical specialists together with our technical specialists in order to maximise utility and clinical validity. For example, for the NGS testing we have our own panels available as well as the option of making customised panels according to the criteria stated by the specialist from the reference centre. The genes that our NGS panels are composed of are selected by our group of experts, and are regularly updated  based on information obtained from curated databases (OMIM, Genereviews, ClinVar, HGMD, LOVD, or RefLab Database®) and the scientific bibliography (such as PubMed or Orphanet).

Technically the areas of the genome that show the highest analytical difficulty are taken into account when our kits are updated in such a way that in the new versions we increase the number of probes in order to ensure high coverage of such areas.