Clinical Cytogenetics II

1.- Principles and application of fluorescent in situ hybridisation (FISH) in prenatal and postnatal diagnosis of congenital diseases, including submicroscopic chromosomal abnormalities. - Aetiology of the most common microdeletion/microduplication syndromes, pathogenesis, clinical picture and genetic counselling. - Recording of FISH results according to the International System for Human Cytogenomic Nomenclature (ISCN). - Principles, platforms and application of chromosomal microarray analysis (CMA) in the diagnosis of congenital genetic disorders. - Pathogenicity classification of copy number variations (CNVs). - Recording of CMA test results according to the ISCN. - Incidental find in a CMA test. - Requirements for material to be cytogenetically examined in the diagnosis of genetic alterations in tumours (bone marrow, cell smears, solid tissues, histological preparations). - Indications for cytogenetic testing for the diagnosis of chromosomal aberrations in case of haemato-oncological diseases and solid tumours. - Application and role of karyotype analysis, FISH and CMA in the diagnosis of acquired chromosomal aberrations in case of haemato-oncology (acute and chronic leukaemias, myelodysplastic syndrome, etc.) and certain solid tumours (sarcomas, breast cancer, etc.). - Specifics of ISCN in the recording of results of karyotype analysis, FISH and CMA in the diagnosis of acquired chromosomal aberrations.

1.- Making of metaphase and cell smear (cytological) fluorescent in situ hybridisation (FISH) preparations. - Making of histological FISH preparations. - Analysis of FISH preparations under a fluorescent microscope. - Application of digital FISH analysis software in the microscopy of FISH preparations. - Able to apply the ISCN nomenclature in the recording of FISH test results in the diagnosis of congenital and acquired chromosomal abnormalities. - Able to classify copy number variations (CNVs) according to their clinical significance and apply the ISCN nomenclature in the recording of chromosomal microarray analysis (CMA) results in the diagnosis of congenital and acquired chromosomal abnormalities.

1.- Interprets fluorescent in situ hybridisation (FISH) results in relation to the clinical picture in prenatal and postnatal diagnosis of genetic diseases. - Able to provide genetic advise to the patient and their family in case of changes to hereditary copy number variations (CNVs). - Able to purposefully recommend cytogenetic tests for the diagnosis of acquired chromosomal aberrations in case of certain haemato-oncological and oncological diseases. - Able to identify patients with a possible hereditary cancer syndrome.