Sonic Genetics eNewsletter | Issue 2 | September 2020

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Welcome to the Sonic Genetics eNewsletter

Welcome to the Sonic Genetics eNewsletter

Issue 2 | September 2020


Welcome to the second edition of the Sonic Genetics Newsletter. Sonic Genetics is the genetic testing arm of Sonic Pathology Australia, a network of eight Sonic pathology practices across Australia. All of our tests are available through your local Sonic practice and collection centres. You can find details of our tests at We have a team of genetic pathologists and senior medical scientists available to assist in test selection and interpretation. If you have any questions, please call us on 1800 010 447 or email us at

We provide this Newsletter to highlight new tests being offered through Sonic Genetics and to remind you of tests that may have been available for a while.

We welcome requests for subjects for this Newsletter. You can contact Sonic Genetics by email to, by calling 1800 010 447 or through your local Sonic pathology practice.

Professor Graeme Suthers


Director of Genetics, Sonic Pathology Australia


Familial disordersNEW Familial hypercholesterolaemia

Hypercholesterolaemia is a common condition that GPs are experienced in detecting and managing. The majority of patients have multiple genes which underlie their hypercholesterolaemia, and can benefit from a range of dietary, lifestyle and drug interventions. However, there are a few genes in which a single mutation is sufficient to cause severe hypercholesterolaemia that is relatively resistant to the usual interventions. As the patient has only one gene involved, this form of hypercholesterolaemia is familial.

There are more than 100,000 patients with familial hypercholesterolaemia (FH) in Australia, and yet less than 10% have been identified and are getting the right treatment.

Genetic testing can identify patients with familial hypercholesterolaemia. This testing is now available through Sonic Genetics and is rebated by Medicare for specialist referrals. A genetic diagnosis of FH is essential for the correct diagnosis and management of this disorder. Targeted interventions are effective, and specific medications are available on the PBS.

For more information, click here


TOPIC HLA testing for risk of coeliac disease

Coeliac disease is due to a combination of predisposing genetic factors and exposure to gluten. The diagnosis of active coeliac disease is best made by specific serological tests. However, determining the risk of developing coeliac disease can be tricky, especially in patients who have already excluded gluten from their diets.
Specific variants in the HLA-DQ2 and -DQ8 genes predispose a person to develop coeliac disease. This is not a strong prediction: the majority of such people do not develop coeliac disease. However, the absence of these variants is a strong predictor that the person will not develop coeliac disease. The absence of these variants effectively excludes both the diagnosis of coeliac disease in a symptomatic patient and the possibility of developing coeliac disease in the future. Coeliac HLA Typing tests for the presence of these susceptibility antigens.

For more information, click here

Pharmacogenomics (PGx)FOCUS: Testing for risk of hypersensitivity to carbamazepine

Carbamazepine can occasionally cause an adverse skin reaction. This reaction typically occurs within 8 weeks of starting treatment, is not dose-related, and ranges in severity from a mild rash to a life-threatening syndrome of severe mucosal ulceration (Stevens-Johnson syndrome).
A particular HLA variant, HLA-B*1502, is strongly associated with the risk of developing a severe reaction to carbamazepine. The variant is widespread, and is particularly prevalent in people with Southern Chinese (Han) ancestry. Testing for this variant prior to exposure to carbamazepine identifies those at greater risk of developing an adverse skin reaction. Patients who have this variant should avoid carbamazepine.

For more information, click here

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