Showing 1-10 of 65 results

  1. Newborn bloodspot screening

    19 Jul 2019

    Every newborn baby in Australia is offered a newborn bloodspot screening test to identify those at risk of rare, but serious, medical conditions...

  2. Pregnancy tests - maternal serum screening

    19 Jul 2019

    Maternal serum screening can indicate increased risk of abnormalities in the unborn child, but is not a diagnosis...

  3. Huntington's disease

    11 Jul 2019

    The symptoms of Huntington's disease usually, but not always, first appear when the person is approaching middle age...

  4. Treacher Collins syndrome

    11 Jul 2019

    Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss...

  5. Charcot-Marie-Tooth disease (CMT)

    11 Jul 2019

    Charcot-Marie-Tooth disease is the most common inherited disorder affecting the peripheral nervous system...

  6. Genetic services in Victoria

    Genetic services in Victoria

    Genetic services can help people who are affected by, or who are at risk of, inherited conditions or birth defects, to make informed choices about their healthcare...

  7. Tuberous sclerosis

    09 Jul 2019

    Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity...

  8. Pregnancy tests – chorionic villus sampling

    04 Jul 2019

    Chorionic villus sampling (CVS) is a pregnancy test that checks the baby for some abnormalities...

  9. Genetic disorders

    04 Jul 2019 Genetic disorders

    A genetic disorder is caused by an altered or faulty gene or set of genes...

  10. Marfan syndrome

    04 Jul 2019

    Some people may not realise they have Marfan syndrome, because their features are either mild or not obvious...