About Genetics at RCH

  • Victorian Clinical Genetics Services provides state-wide clinical and laboratory genetic diagnosis, genetic counseling and support, and genetic education service.  Our clinical services provides diagnosis, risk assessment, management and counselling for people with genetic conditions. We see patients in metropolitan Melbourne, regional Victoria, Tasmanian, and the Northern Territory. Our laboratories provide newborn screening to all babies born in Victoria as well as metabolic, chromosome and molecular genetic tests.

    Here at the Royal Children's Hospital we provide inpatient consultations and outpatient clinics. Some of our services include:

    • Diagnosis and management of inherited bone disorders (conditions causing severe short stature)
    • Diagnosis, especially of babies or children with birth defects, syndromes associated with distinctive appearance, or craniofacial disorders
    • Neurogenetics clinics with a particular interest in problems with brain development
    • Neurofibromatosis clinic
    • Genetic skin disorders clinic
    • Laboratory diagnosis and counseling for genetic cardiac disorders
    • Genetic testing for certain disorders including bowel cancer
    • Carrier detection of genetic conditions including cystic fibrosis and hemophilia
    • Chromosome abnormalities, including those seen in leukemias
    • Counselling and support concerning the impact of a genetic disorder

    How to access our service

    Urgent inpatient consultations are available 24hours a day seven days per week. During office hours call (03) 8341 6201. Out of hours the on-call fellow or geneticist can be contacted via the RCH switchboard. Urgent laboratory tests can also be accessed via the RCH switchboard.

    To make a genetic outpatient appointment send a referral, and we will contact you with details of an appointment date and time.  Clinics are held weekly - there is usually a waiting time of approximately 6 - 8 months, but urgent referrals are seen earlier.  Some specialized clinics may have longer waiting times. 

    A referral letter from a medical practitioner is required.  Referral letters from other health professionals will also be accepted.

    For further information:

    Please visit