NAME Plataforma de Genética Genómica

DESCRIPTION

La Plataforma de Genética/Genómica da servicio técnico/científico, tanto a la investigación como a la asistencia clínica. Aplicamos técnicas tradicionales dentro de la Biología Molecular/Genómica como es la secuenciación sanger, análisis de fragmentos, estudio de variaciones en el número de copias. Para todas aquellas técnicas genéticas existe una certificación externa; EQA-EMQN. Contamos con la Autorización como Centro Diagnóstico por el Dpto. de Salud del GV y somos centro de referencia en Euskadi como Laboratorio de Genética para Diagnóstico Genético Preimplantacional.

FIELDS OF APPLICATION

In-Vitro diagnostics

MOST OUTSTANDING EQUIPMENT AND COMPONENTS

  • 3500, SeqStudio y ABI 3130XL Genetic Analyzers (ThermoFisher)

    Sanger sequencing and fragment analysis (MLPA, QMPSF, VNTR analysis, microsatellites, etc.).

  • Ion GeneStudio S5 PLUS massive sequencing platform and 2 Ion Chef System robots (Ion Torrent-ThermoFisher)

    Massive sequencing studies: gene panels, complete exomes, transcriptomes, genotyping, microbiota studies, virus typing, aneuploidy or deletion-insertion studies.

  • QuantStudio 12K Flex Real-Time PCR System

    It allows medium-throughput genotyping, gene expression studies and small RNA studies.

  • QX200 Droplet Digital PCR System (BioRad)

    For DNA and RNA molecules absolute quantifications with greater sensitivity, allowing the detection of extremely rare events both at the DNA level, as well as gene expression or microRNAs

  • SureScan Microarray Scanner (Agilent Technologies)

    For CGH studies and mRNA y microRNAs expression studies

SERVICES OFFERED BY THE ASSET

Copy Number Variation (CNV) Analysis

NCV Analysis using Q-PCR, digital PCR or CGH arrays

Genotyping Service

SNPs genotyping panels

Massive sequencing studies

Gene panels, complete exomes, transcriptomes, genotyping, etc

Molecular diagnosis

Genetic diseases molecular studies

Preimplantation genetic diagnosis

Embryo biopsy genetic analysis for genetic disease detection

Sanger sequencing services

Sanger sequencing services and technical support

SARS-CoV2 detection

RT-PCR and PCR digital detection

ENTITY MANAGING THE ASSET

ENTITY MANAGING THE ASSET
ASOCIACIÓN INSTITUTO INVESTIGACIÓN SANITARIA BIOCRUCES BIZKAIA
Contact person:
Ana Belén De la Hoz Rastrollo
anabelen.hozdelarastrollo@osakidetza.eus