Integrating molecular and cytogenetics labs and genetics ：分子和细胞遗传学和遗传学实验室的整合.ppt

Integrating molecular and cytogenetics labs and genetics with pathology Alison Taylor January 7th 2011 Cytogenetics and Molecular genetics are 2 main branches of laboratory genetics Cytogenetics involves the microscopic analysis of chromosomal abnormalities such as an increase or reduction in the number of chromosomes, or a translocation of part of one chromosome to another Molecular genetics uses the tools of DNA technology to analyse mutations in genes. The distinction between these two disciplines has become increasingly blurred by the advent of molecular cytogenetics, which makes use of DNA hybridisation to detect subtle chromosomal abnormalities such as microdeletions. Current situation In the past cytogenetic and molecular genetics – 2 separate disciplines Currently many labs are merging to form one genetics department overseen by a joint director Driven by joint training schemes (MSC), merger of ACC and CMGS, overlap in techniques and technology used, finance, space Pathology Pathologists specialise in the detection of disease through the use of a variety of investigative techniques. Their work can be vital in finding an accurate and early diagnosis and improving the prospects for treatment. They also play an important role in identifying sources of disease and reducing the possible risks of further spread. Genetics and Pathology Clinical Biochemistry Newborn screening – CF/MCADD Enzyme tests for metabolic disorders indicate genetic tests required e.g. Fabrys, Gaucher Immunology Protein tests for primary immunodeficience indicates genetic tests required e.g. XSCID Histopathology Diagnosis of disorders e.g. Battens, look for formation of various structures – GRODs, curvilinear bodies Genetics and Pathology Microbiology – rapid detection and identification of pathogens Haematology – test for Haemophilia, thalasaemia Molecular Oncology Tumour markers of acquired disease Monitoring patients with leukaemia/lymphoma Cytogenetics – karyotype/FISH/array Molecular