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Molecular Diagnostics Platform

Research Area: 
Life & Medical Sciences

Pº Doctor Begiristain, s/n
20014 Donostia


Pilar Camaño González
Tel.: + 34 943 006127
E-mail: pilar.camanogonzalez@osakidetza.net

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The IIS Biodonostia Molecular Diagnostics Platform was set up to cover the demand from hospitals and private centres for different molecular studies on genetic pathologies, using their experience in new Next-Generation Sequencing (NGS) techniques.

Within genetic pathologies, hereditary illnesses are caused by alterations to DNA, in genes and/or chromosomes and they are defined as any pathology that can be transmitted to descendents, each following a determined inheritance pattern, with a clinical manifestation that might appear at any time in the affected person’s life or not at all.

Clinical genetics have evolved considerably to the point of knowing the genetic cause (mutations in a gene or genes) of many hereditary diseases, and many population variants have been determined that explain a predisposition to suffering illnesses with a clear environmental influence, knowing how effective the pharmacological functions might be depending on the personal genome (pharmacogenomics), etc.

Within molecular genetics applications in hereditary diseases we offer: diagnostic confirmation, diagnostic on carriers, early symptoms and prenatal studies.

This Platform has the technology required for molecular diagnostics (PCR, RFLPs, Southern blot, etc.) and it receives technological support from the IIS Biodonostia Genomic Platform (Real Time PCR, Automatic Sequencing, MLPA, Typhoon Trio, Personal Genome Machine System or Ion Torrent PGM, etc.), as it can use this Platform in the diagnostics process. It also has specific apparatus for a variety of techniques, such as the case of Pulsed Field Gel Electrophoresis (PFGE) in diagnosing Facioscapulohumeral Muscular Dystrophy (FSHD) and Nuclear Medicine services to use radioactivity in this diagnosis.

The Platform offers these diagnostic services, guaranteeing personalised care from a qualified team that will provide relevant, individualised genetic counselling to the specialist clinic of origin.