This laboratory provides state-of-the-art genetic testing to all of Victoria, Tasmania
and interstate/overseas specialists, performing ~10,000 genetic tests per year.
It offers diagnostic testing for more than 50 different genetic disorders, including
carrier testing, predictive testing and prenatal diagnoses. In keeping with best
practice standards, this laboratory recommends genetic tests for inherited conditions
are offered in partnership with clinical genetics services.
Our major activities for 2012 are to extend services to the community using
the Sequenom MADI-TOFF technology to test for Cystic Fibrosis, Mitochondrial Disorders
and the Ashkenazi Jewish conditions. We are also expanding cardiac genetic services
to include not only Long QT Syndrome, but also Hypertrophic and Dilated Cardiomyopathy
and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Population screening
programs for genetic conditions, which give couples choices in family planning decisions,
are also an area of continued development.
Our research focus within the MCRI Laboratory and Community Genetics Theme is two-fold
(i) genes predisposing to inherited colon cancer and polyposis, a partnership with
RMH Gastroenterology and (ii) genetics of epilepsy, a project aiming to identify
new genes associated with epilepsy.
Senior Medical Scientists
For Further Information
Carrier Screening for Cystic Fibrosis, Fragile X Syndrome & Spinal Muscular Atrophy
Cardiac gene testing with massively parallel or “next generation” sequencing