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NAME

Genetics and genomics Platform

DESCRIPTION

The Genetics / Genomics Platform provides technical / scientific service, both for research and clinical assistance. We apply traditional techniques within Molecular / Genomic Biology such as sanger sequencing, fragment analysis, study of variations in the number of copies.
For all those genetic techniques there is an external certification; EQA-EMQN.
We have the Authorization as a Diagnostic Center by the GV Health Department and we are a reference center in the Basque Country as a Genetics Laboratory for Preimplantation Genetic Diagnosis.

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

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1022

Copy Number Variation (CNV) Analysis

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1024

Genotyping Service

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1023

Massive sequencing studies

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1019

Molecular diagnosis

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1020

Preimplantation genetic diagnosis

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1021

Sanger sequencing services

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1025

SARS-CoV2 detection

ENTITY MANAGING THE ASSET

ASOCIACIÓN INSTITUTO INVESTIGACIÓN SANITARIA BIOCRUCES BIZKAIA

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Contact person:

Ana Belén De la Hoz Rastrollo

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