L1, Kolling Institute of Medical Research Royal North Shore Hospital Pacific Highway St Leonards   NSW   2065 Phone: 61 2 9926 8899 Fax: 61 2 9926 8484

Department Head Anne Proos email to:aproos@doh.health.nsw.gov.au

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The Laboratory and Community Genetics Department offers testing for a range of inherited diseases using both biochemical and molecular techniques. The Department has specialised in the area of carrier screening for genetic diseases focusing on testing individuals from specific ethnic and geographical backgrounds. This is mainly to enable young couples "at risk" of having children with serious inherited disorders to make reproductive decisions prior to having families. The range of tests performed is continually expanding to meet the needs of Northern Sydney Health and the wider community with the following tests currently available: Carrier testing for Tay-Sachs disease, Sandhoff disease, cystic fibrosis, Canavan disease and Fanconi anaemia Testing for haemachromatosis, Factor V Leiden and certain haematological conditions Determination of the disaccharidase levels in small bowel biopsies Determination of the isoenzyme or isoform patterns of different proteins The research component of the Laboratory is focused on two areas;   design of carrier testing programs, and cystic fibrosis mutations in infertile couples and the general population. Investigation is underway into optimal ways of offering carrier testing to the community at large. These investigations include trialing testing programs with senior high school students and running an outreach centre in the eastern suburbs of Sydney.

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