Laboratory service

Genetic diagnosis

Diagnóstico genético

We work with the bio-health sector within the fields of genetics and functional genomics, using new, high performance NGS – Next Generation Sequencing technologies in order to make 4P Medicine (Personalised, Predictive, Preventive and Participative) a reality and bring it closer to patients and professionals.

Genetic diagnosis allows:

  • Genetic causes associated with the emergence of certain pathologies to be identified.
  • Reporting on the risk of developing the disease and the possibility of passing on this predisposition to the next generation, advising on the therapeutic options and strategies available.

Diagnosis of Hereditary Tumour Syndromes.

  • Hereditary Breast and Ovarian Cancer Syndrome (HBOC).
  • Hereditary Colorectal Cancer Syndrome (HCC).
  • Hereditary pancreatic cancer.
  • Other hereditary syndromes (Melanoma, hereditary renal cancer and medullary carcinoma, among others).

Diagnosis of neoplastic diseases (somatic tumours).

We use mass sequencing (NGS) techniques to offer the possibility of identifying the panel of mutations present in somatic tumours through the analysis of genes and specific gene regions (hotspots), selected for their involvement in cell growth and progression, as well as in response to specific anti-tumour treatments, enabling the appropriate therapy to be prescribed in accordance with the molecular characteristics of the tumour.

Aimed at:

  • Hospitals and clinics that require genetic diagnosis.
  • Universities and research centres that require mass analysis technologies.
  • Forensic science (forensic genetics, human identification)
  • Pharmaceutical industry and derivatives. (Pharmacogenetics and Companion Diagnostics).

Accreditations and Recognition

ENAC 2511
ENAC/ILAC accredited in compliance with standard UNE-EN ISO/IEC 17025: 2017 for Forensic Analysis Testing no. 4/LE2511
Gobierno Vasco
Health Authorisation granted by the Basque Government for the Installation and Operation of the Genetics Laboratory

Preimplantation Genetic Diagnosis PGD

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Genetic Diagnosis brochure

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