The HRI Biodonostia Molecular Diagnostics Platform was set up to cover the demand from hospitals and private centers for different molecular studies on genetic pathologies, using their experience in the new Next-Generation Sequencing (NGS) techniques.
Within genetic pathologies, hereditary illnesses are caused by DNA, genes and/or chromosomes alterations and they are defined as any pathology that can be transmitted to descendants, each following a determined inheritance pattern, with a clinical manifestation that might appear or not at any time in the life of the affected person.
The HRI Biodonostia Molecular Diagnostics Platform offers a large range of genetic pathology diagnosis to patients with clinical symptoms suggesting a genetic disease, family members of current patients and prenatal studies on couples that are carriers of any mutation and/or with family record.
The Platform offers all its resources, technology and knowledge guaranteeing personalized care from a qualified team that will provide relevant, individualized genetic counselling to the specialist clinic of origin.
The platform manages its processes according to the guidelines of Standard UNE-EN ISO 9001:2015, while its Quality Management System is certified by AENOR. This lends added value to the work carried out by the Platform, particularly with a view to external applicants for its services, and fosters trust regarding the extent of the Quality applied to the processing of their requests.
Another endorsement of its performance is the EMQN certificate, which accredits its level of quality in obtaining the results of its diagnoses, at European level.
The fast progress made in studying the Human Genome and the enormous technological development on molecular genetics of the last few years have provided knowledge and tools for genetic diagnostics on a considerable number of pathologies making diagnosis, prevention and appropriate therapy possible, working alongside with the clinic specialists.
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.
The Facioscapulohumeral Muscular Dystrophy (FSHD) diagnosis stands out within the HRI Biodonostia portfolio. This disease is the third most common muscular dystrophy after the Duchenne Muscular Dystrophy and the Myotonic dystrophy. Since 2002 the Platform is categorized as a Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) diagnose benchmark center in Spain which is linked to the 4 cromosome (OMIM 158900). Hitherto, more than 3.000 FHSD1 individual studies have been achieved.
A small number of patients (5%), both sporadic and familial cases, with a phenotype similar to FSHD1 do not exhibit the D4Z4 contraction on chromosome 4 and have mutations in the SMCHD1 gene located on chromosome 18. This gene is necessary for a methylation of the D4Z4 region and this entity has been called FSHD2. To date we have performed the molecular study of FSHD2 in more than a hundred individuals negative for FSHD1.
The recent foundation of the Spanish FSHD Association (FSHD-Spain) was an important milestone in the FSHD fight. Visit its Website or Facebook Profile to learn more about the association.
The Molecular Diagnostics Platform has the technology required for molecular diagnostics plus some specific apparatus for a variety of techniques such as the case of Pulsed Field Gel Electrophoresis (PFGE) and other Nuclear Medicine services to use radioactivity in diagnosing Facioscapulohumeral Muscular Dystrophy (FSHD)
What is more, the Platform receives technological support from the Biodonostia HRI Genomic Platform. For instance, in 2014 sequencing service of the SMCHD1 gene, linked to Facioscapulohumeral muscular dystrophy type 2, was set up from that platform using massive sequencing technology (Ion Torrent).
Moreover, the Computational Biology Platform of the Biodonostia HRI creates synergies and enlarges the efforts made by the Genomic and Molecular Diagnosis Platforms when analyzing large-scale biological datasets that include data quality assessment, comprehensive analysis, results interpretation, communication and presentation in meaningful formats.
The response time is given in the services offered section and it is calculated in calendar days from sample arrival in the lab to issuing results. The response time is likely to vary due to external factors such as the time taken by suppliers to provide reactive agents or occasional hitches suffered by the technical resources.
The Molecular Diagnostics Platform reserves the right to reject any request or sample that does not meet the set requirements and promises to notify the requesting party about any incident related to identifying, handling or processing the sample or request sheet (loss, accident, etc.).
