Level 4, Stage 1 Building Royal North Shore Hospital Pacific Highway St Leonards   NSW   2065 Phone: 61 2 9926 8109 Fax: 61 2 9906 1635

Laboratory Manager Nisha Singh email to:nsingh@doh.health.nsw.gov.au

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The Cytogenetics Laboratory provides a broad service in clinical cytogenetics, covering the following clinical settings: MALIGNANCY: investigation of clonal somatic mutations of karyotype in leukaemias and solid tumours PRENATAL DIAGNOSIS of fetal karyotypic abnormality, via amniocentesis or chorionic villus sampling CONSTITUTIVE chromosome abnormality in neonatal and paediatric cases INFERTILITY & reproductive loss: detection of chromosome abnormality underlying infertility or recurrent miscarriage. In the last two years, the Cytogenetics Laboratory has increased in size by around 25% (in both annual throughput and staff number) and is in the process of a major technological upgrade which will continue to enhance both turnaround times and the quality assurance process. The Cytogenetics Laboratory works in close liaison with the RNSH Genetic Counselling and Fetal Medicine Units, the University of Sydney Department of Obstetrics and Gynaecology, the PaLMS Community Genetics Laboratory, and the NSW Genetics Education Unit, all located within the RNS campus. Research undertaken by the Cytogentics Lab includes the study of chromosome mutation during evolution of drug resistance in tumour cells (in collaboration with the Clinical Oncology Department, RNSH, and CSIRO Molecular Science, Ryde).

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