Genetics
In the area of Genetics of Catlab, we work giving service to specialties such as gynecology, pediatrics, psychiatry, hematology or pathological anatomy, in the diagnosis of constitutional or acquired genetic defects. We have the capacity to provide a diagnosis, both from global studies such as the karyotype, the CGH array and the new generation sequencing, as well as from directed studies such as FISH or point mutations analysis through real-time PCR, and other diverse techniques. The ultimate goal, especially in the diagnosis of rare genetic diseases, is to support medical professionals, to transmit together, both to patients and their families, the essential information about the disorder they suffer:
• how it has been detected,
• how it could have originated,
• how it can affect their health and their family,
• what therapeutic and reproductive options they have,
all, within the framework of a communicative process of genetic counseling.
Constitutional diagnosis, pre and postnatal
Caryotype or array for the diagnosis of fetal aneuploidy, and non-invasive prenatal test by studying fetal DNA in maternal blood.
Diagnosis of rare genetic diseases (cystic fibrosis, autism spectrum disorders, syndromes associated with intellectual disability and epilepsy, etc.) through different cytogenetic and molecular biology techniques.
Diagnosis of acquired genetic defects (oncohematology, molecular pathology)
Detection of different markers for diagnosis and prognosis of diseases in oncology and oncohematology (point mutations to oncogenes, somatic chromosomal rearrangements, study of clonality of lymphocytes, instability of microsatellites, etc.).
Close collaboration with the Pathological Anatomy Service of the Hospital Universitari Mutua de Terrassa through an integrated unit of Molecular Pathology.
HLA allele genotyping
Characterization of the HLA B and DQ genes to evaluate the susceptibility to immunological-based diseases such as celiac disease, ankylosing spondylitis, Behçet's disease and hypersensitivity to drugs such as Abacavir.
