Information for Clinicians
Canberra Clinical Genomics (CCG) offers NATA accredited whole exome sequencing as a clinical service. CCG has been established to provide clinicians with access to state-of-the-art whole exome sequencing (WES) in order to improve diagnosis of their patients in routine clinical practice.
WES testing is available to eligible patients from all clinical units at the Canberra Hospital and surrounding locations, at no cost.
Suitable patients for WES testing include those with:
• suspected monogenic diseases
• patients with genetically heterogeneous conditions (i.e. where variants in more than one gene can cause the same clinical phenotype)
• patients with severe sporadic disease, particularly early onset cases, where de novo mutations may be responsible
The patient's clinical presentation is used to guide the analysis of WES data, providing the best chances to identify disease-causing variants. Hence clinical information, including a detailed description of the patient’s phenotype, is essential for patient assessment and interpretation of sequencing results.
Diagnostic referrals can be sent directly to the laboratory or can be discussed during discipline specific multidisciplinary meetings. Multidisciplinary meetings are attended by clinical geneticists, specialists, genetic counsellors, bioinformaticians and scientists. Discussions cover items such as clinical indications, previous genetic testing, family history, candidate genes (if applicable), benefit to patient management and availability of family members for testing.
Our team is happy to discuss with your department specific requirements that will facilitate your access to the service.
After cases are approved for testing and samples are received reporting of final results usually takes 6 months.