Presentation
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The Genetics Laboratory belongs to the Center for Genomic Medicine of the CCSPTi is located in the Clinical Laboratory Service, with whom it shares infrastructure, technology and human resources
The Genetics Laboratory is a specialized Unit that carries out the genetic tests and molecular analyzes necessary to determine the genetic diagnosis, helping in the diagnosis, treatment and follow-up of patients with genetic and hereditary diseases. It is equipped with cutting-edge technology to carry out cytogenetic, genomic and other types of molecular analyses.
About us
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- Neus Baena Díez - Head of the Genetics Laboratory Section. Laboratory geneticist
- Anna Brunet Vega - Laboratory geneticist
- Anna Ruíz Nello - Laboratory geneticist
- Nino Spataro - Bioinformatics
Specialist technical staff in the Genetics Laboratory
- Laura Capel Afternoon
- María del Carmen Domínguez Fernández
- Carmen Marta Buil
- Laura Camacho Luzuriaga
- Eduardo Perez Romero
Catalog of services
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Classic Cytogenetics
Classical cytogenetics is aimed at infertility studies and bone marrow studies of hematological neoplasms and is combined with techniques of molecular cytogenetics such as FISH which provide diagnostic and prognostic information.
Within the Hematology area, diagnosis and follow-up of CML, study of thalassemia, hemochromatosis and thrombophilia are carried out.
Molecular Genetics
Genomic screening techniques such as aCGH and Fragile X Sd.
Techniques such as MS-MLPA and microsatellites for the diagnosis of genomic imprinting syndromes such as Prader-Willi and Angelman syndrome for which we are a reference center in Spain.
NGS techniques aimed at the study of hereditary cancer and the exome
In the prenatal field we do both aCGH and phenotype-directed exome studies.
Research and teaching
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Research
Main strategic lines
- Group A5G3 - Disorders of the neurodevelopment genetic basis: We are leaders in genetic syndromes such as Angelman, Prader-Willi, fragile X and alterations of sex chromosomes.
- Study prenatal exome in patients with multiple malformations
- Innovation in the development of omics and big data technologies for the search for genomic variants associated with neurodevelopmental disorders.
- Genetic factors involved in the susceptibility of neuropsychiatric disorders.
Teaching
- Postgraduate: Masters in genetics
- Courses for advanced laboratory technicians
Genetics Laboratory
