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Sistemas Genómicos’ Biomedicine area is specialised in the diagnosis of genetic diseases, in a high percentage considered to be rare diseases, the study of their physiopathological processes and the development of new treatment outlines that address personalised medicine.

  • Genetic diagnosis can be done by applying technologies ranging from conventional cytogenetic ones to ultrasequencing with massive sequencing technologies, including molecular diagnoses by Sanger sequencing, QPCR, fragments analysis, automatic fluorescent in situ hybridisation and single-cell diagnosis, which lead to a clinical and biological interpretation of the results found.

  • The Genetic Board helps establish the risk of familial recurrence and proposes alternative personal and familial reproductions.

  • Treatment which addresses personalised medicine is done by the molecular detection of specific target therapeutics and by genotyping the genes related with the pharmacological response before starting treatment or other methodologies to improve patient’s safety and treatment efficiency, following protocols validated by the FDA (U.S. Food and Drug Administration) and the EMEA (European Medicine Agency).

  • Preventive Genetic Medicine is the development of specific protocols for each family after passing the Genetic Board, such as prenatal cytogenetic, cytogenomic and/or molecular diagnosis, cytogenomic and/or molecular preimplantational diagnosis and familial predictive diagnosis.

One of the main values of our firm is our Quality policy. This is reinforced by the firm seeking external quality assessment of our services through certifications as regards the ISO 9001 standards (ER 0052-2005), ISO 17025 accreditation (no. 313/LE646) or participating in interlaboratory comparison programmes with prestigiously acknowledged national and international organisations. EMQN (European Molecular Genetics Quality Network), CEQA (Cytogenetic European Quality Assessment) and the Spanish Haematology and Haemotherapy Association (AEHH). .

Sistemas Genómicos’ Biomedicine Area is formed by the Medical Genetics and the Reproductive Genetics Units, with more than 30 perfectly specialised professionals.