Quality

Experts accredited in
genetic diagnostic testing
of inherited diseases

CLIA (Clinical Laboratory Improvement Amendments)

CLIA (Clinical Laboratory Improvement Amendments): awarded by the US federal government’s Centers for Medicare & Medicaid Services (CMS).

ACCREDITATIONS

Quality assurance and technical competence [downloadable technical appendix]:

CERTIFICATIONS

Quality management system:

EXTERNAL QUALITY ASSURANCE

As members of the European Molecular Genetics Quality Network (EMQN, UK) and the Genomics Quality Assessment (GenQA, UK), we successfully participate in their annual interlaboratory programs (technical and disease-specific external quality assessment schemes, EQA) related to inherited cardiovascular, neurological and immune diseases as well as hereditary cancer. The excelence of our quality assurance program has been acknowledged by The College of American Pathologists (CAP, US) for our continuous improvement in quality through participation in proficiency testing (CAP # 8280234-01).

AWARDS

• Innovative SME Award 2016.
• Seal of Excellence: Certificate delivered by the European Commission as managing institution for Horizon 2020, the EU Framework Programme for Research and Innovation 2014-2020. Project proposal no. 729192, HIC-SW_HIC-Software: A new Laboratory Management System (LIMS) for genetics.

Quality Control and Analytic Validation

Quality control at Health in Code is understood as management of the performance of the pre-analytical, analytical, and post-analytical stages of the clinical laboratory process, which includes monitoring the test methodologies and specifications, reagents, equipment, sample handling, test reporting, and internal and external audits to ensure the continuous high quality of testing.

Health in Code performs analytic validation studies following the guidelines from the EuroGentest Group and the ACMG (American College of Medical Genetics), in accordance with the requirements of UNE-EN ISO 15189 quality standard for clinical laboratories. Analityc validity of Health in Code’s NGS panels has been demonstrated for SNPs and INDELs (≤20 pb) utilizing a NA 12878 (Coriell Cell Repositories, NJ) standard reference sample with results yielding on average: 1.000 sensitivity, 1.000 specificity, and 0.999 accuracy for both SNPs and INDELs, as well as high repeteability and reproducibility scores (≈96%) for variant detection. In addition, Sanger sequencing is used to confirm those clinically relevant variants obtained with suboptimal quality parameters, as well as variants located in low-coverage regions.