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Operational Area Service of the CORE Molecular Biology Laboratory Service
The CORE Molecular Biology Operations Area is a complementary area that responds to the molecular biology needs of other CBD services. The healthcare activity is organized on the following technological platforms:
Nucleic acid extraction. Performs automated extraction of nucleic acids from all types of tissues and samples; it extracts both DNA and RNA.
qPCR. This platform has the automated FLOW system for the detection of viruses and other pathogens in different types of samples in real-time PCR. It achieves results in a few hours, which allows a quick diagnosis.
Sanger sequencing. Sanger sequencing automatically amplifies and sequences about 2,100 different extensions that correspond to about 215 different genes. In addition, it also analyzes sequences generated in the different services of the CBD and in research laboratories.
Mass sequencing (NGS) and emerging technologies. The NGS has the ability to perform exome analysis, by sequencing panels of disease-specific genes (neonatal diabetes, imperfect osteogenesis, typing for histocompatibility analysis, etc.) using Illumina and Ion Torrent technologies. In addition, the laboratory has nCounter (Nanostring) technology for the analysis of gene expression applied to diagnosis.
Bioinformatics. The Bioinformatics area is responsible for the development of specific pipelines and the analysis of data produced with mass sequencing or gene expression technologies obtained in the laboratory.
There are currently about 21,000 nucleic acid extractions performed a year with more than 300 different features that use mostly mass sequencing and Sanger sequencing. Of note is the ProsignaR test for calculating the risk of recurrence in postmenopausal patients with breast cancer, which has already been performed on more than 400 patients at different health centers.
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