SG Exome

Exome analysis is based on massive sequencing of the codifying areas of the genome.


By analysing these regions we can study 85% of known mutations and 21,000 genes.

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Clinical Exome

This is recommended for studying patients with a non-characteristic biochemical or clinical profile or with disperse clinical expressions. In other words, in diseases with a high level of heterogeneity, in patients with two or more unrelated phenotypes or without clinical characteristics.

Furthermore, this is also recommended for the study of healthy parents who have had miscarriages or new-borns with validation from parental variants.

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Exome Screening

An analysis tool that allows us to focus on variants associated with more relevant diseases with the aim of saving time in screening.

Thanks to its design, this type of exome is focussed on the analysis of variants associated with disease. We use a resequencing method that allows us to get information on over 102,000 variants associated with disease.

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Tumour Exome

Tumour exome analysis is an important advance in the clinical field as a potent tool tool to help doctors in their work for researching, analysing and studying somatic diseases and assessing the molecular markers in researching new therapeutic routes.



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Here at Sistemas Genómicos, we provide you will all our knowledge to help you.

Personalised Services

We provide personalised analytical solutions for our specialisation areas.