Head of Section of the Genetics Laboratory. Baena Díez, Neus – Laboratory geneticist
Members
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Brunet Vega, Anna – Laboratory geneticist
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Capel Tarda, Laura – Laboratory technician
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Domínguez Fernández, María del Carmen – Laboratory Technician:
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Mata Buil, Carme – Laboratory technician
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Pérez Romero, Eduardo – Laboratory technician
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Ruiz Nel.lo, Anna – Laboratory geneticist
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 state-of-the-art technology to perform genomic, cytogenetic and other types of molecular analysis. Laboratory staff are also responsible for interpreting the results of genetic tests and advising other healthcare professionals about the studies and results.
Techniques and portfolio of services
It includes a variety of tests ranging from Classical Cytogenetics to massive sequencing. Classical cytogenetics is aimed at infertility studies and bone marrow studies of hematological neoplasms and is combined with molecular cytogenetic techniques such as FISH that provide diagnostic and prognostic information. Within the Hematology area, diagnosis and follow-up of CML, study of thalassemia, hemochromatosis and thrombophilia are carried out. The Molecular Genetics area performs genomic screening techniques such as aCGH, and techniques such as MS-MLPA and microsatellites for the diagnosis of certain syndromes (genomic imprinting), or Fragile X Syndrome. We also have tests aimed at specific genes and exome or genome sequencing (NGS). In specific cases, another type of study can be requested, such as the transcriptome or epigenetic profiles. We also do both aCGH and phenotype-targeted exome prenatal studies. Certain genetic studies are outsourced to centers of accredited expertise.
Our laboratory is recognized by Catsalut for the comprehensive study of cancer predisposition genes in patients with hereditary breast and ovarian cancers using massive sequencing (NGS).