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.

Tests & specimen requirements

Tests: further details on costs and turnaround times

Publications

The Team

Laboratory Head

• Dr Desirée du Sart, PhD, BSc, FHGSA, FFSc(RCPA)

Senior Medical Scientists

• Dr Belinda Chong, PhD, MSc, BSc, FHGSA, FFSc(RCPA)
• Melanie Smith, BSc (Hons), MHGSA
• Shannon Cowie BSc(Hons), FHGSA
• Vanessa Calabro BSc, FHGSA

For Further Information

• Cystic Fibrosis Carrier Testing program

Carrier Screening for Cystic Fibrosis, Fragile X Syndrome & Spinal Muscular Atrophy

• Reproductive Genetic Carrier Screening

Cardiac gene testing with massively parallel or “next generation” sequencing

• Patient Information Sheet
• Patient Referral Form
• Information for Referring Practitioners
• Consent for Cardiac Gene Testing

Forms

• Notification of Prenatal Diagnosis