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Medical Scientist (Variant Curator, Diagnostic Genomics) - Pathology Services

Clayton, VICPosted 1 weeks ago
Full-timeonsitemid

Job Description

  • The Cytogenetics Laboratory which processes a range of prenatal and postnatal specimens, using conventional and molecular diagnostic techniques. This includes DNA extraction, tissue culture, FISH, Microarray and Karyotyping. 
  • The Genetics and Molecular Pathology laboratory which provides a specialised genetic testing service for oncology, haematology as well as inherited diseases. Our genomics team currently offers DNA and RNA next generation sequencing (NGS) for targeted panels in solid tumour biology, haematology and cardiac. Additional NGS panels soon to be offered will include investigations into cancer predisposition disorders and WES for monogenic disorders.
  • The Thalassaemia and Haemophilia Molecular laboratory’s role is to confirm the genetic basis for thalassaemia and other significant haemoglobinopathies, identify carrier status and perform prenatal testing for couples at risk of giving birth to children with severe disease. This laboratory also performs proband and carrier testing for Haemophilia A and Haemophilia B as well as prenatal testing.
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