The Victorian Clinical Genetics Services (VCGS) offers a comprehensive range of tests for genetic heart disorders which includes cardiomyopathy, arrhythmia, aortopathies and congenital heart disease.
Our approach uses multi-gene 'panels' that are tiered to assess genes that are known to cause specific heart condition. With the option of choosing from our targeted panels, creating customised panels or utilising the comprehensive panel, testing can be personalised and made more affordable.
Our panels provide 100% sequence coverage of the coding region which means there are no gaps in our sequence analysis.
Heart disorders affect the normal function of both the heart muscle and the large blood vessels that carry blood to and from the heart. These disorders can run in families, whilst others may be isolated to a single-family member and are caused by environmental factors such as trauma and infection.
Genetic heart disorders are caused by gene changes that affect the development of the heart and blood vessels. Identification of genetic causes of cardiac disorders can be life saving. It is also important for family members as they may also be at risk of developing heart problems. Establishing a genetic cause for heart conditions can direct and target patient testing, management and surveillance.
How does cardiac panel testing work?
At VCGS, gene testing for genetic heart disorders is performed in ‘panels’ using a technology called Next Generation Sequencing (NGS). Our panels are grouped into genes that are known to cause related heart conditions.
NGS is used to read the genetic content (DNA) to identify changes in the DNA sequence that are known to cause genetic heart conditions. These DNA changes, known as mutations or variants can be benign (not associated with disease), pathogenic (can cause a cardiac condition) or their significance may not yet be known.
VCGS uses a team of clinical geneticists, genetic counsellors and clinical scientists to determine the significance of these variants.
Our cardiac disorder panels fall into four major categories: aortopathy, arrhythmias, cardiomyopathies and congenital disorders with some categories being further tiered based on clinical indication. VCGS also performs all follow-up testing including prenatal analysis.
Aortopathy are conditions that affect the aorta, the main artery supplying the heart with oxygenated blood. The aorta can become enlarged or weakened, which disrupts blood flow.
Arrhythmias are disorders where the rate or rhythm of the heartbeat is irregular. The heart can beat too fast (tachycardia), too slow (bradycardia) or with an irregular rhythm.
Cardiomyopathies are disorders of the heart muscle, which becomes weakened, stretched, or has other structural problems. There are many types of cardiomyopathy which can be caused by genetic variants in a number of genes.
Congenital cardiac disorders are structural changes in the heart that are present at birth. Congenital heart disorders are the most common anomaly observed at birth and can be life threatening.
VCGS also offers a comprehensive inherited heart disease panel which combines the Cardiomyopathy, Arrhythmia and Aortopathy panels in instances where the cause of the cardiac condition is unknown or in cases of sudden and unexplained cardiac failure.
Panel testing can be arranged through your heart specialist, specialist cardiac genetics clinic or general genetics clinic. A request from signed by your referring doctor and a completed patient consent form are required.Your doctor will discuss with you the benefits and risks of testing. Based on your clinical presentation, they will select the most appropriate test panel.
Testing is usually performed on a blood sample, however other tissue may be used if blood is not available (i.e. if patient is deceased).
Testing typically takes 3-4 months.
How much does cardiac panel testing cost?
Cardiac panel testing is tiered to provide flexible and cost effort testing. In cases where an gene variant has not been found, expanding the analysis to include additional panels can be performed at reasonable costs.
Once a variant has been identified in the family, relatives can be tested for that specific variant at a much lower cost.
There is no government rebate or private health coverage for cardiac disorder panel testing.
Please contact us for our full price list on [email protected]
How will I get my results?
Panel testing typically takes 3-4 months and your results will be reported to your referring doctor. They will discuss any significant results with you and may refer you to a genetic counsellor if appropriate.
What do my results mean?
Once your sample has been tested, a team of experts review any DNA changes or variants found. The team will determine the significance of any variants, using all the available published scientific literature.
Variants fall into a number of categories:
|Class 5: Pathogenic Variant:
Pathogenic variants are considered disease-causing
|Class 4: Likely pathogenic variant:
The level of evidence that likely pathogenic variants are disease-causing is very high.
|Class 3A: Variant(s) of unknown significance with high clinical significance: VUS with high clinical significance are variants that have evidence to suggest they are pathogenic but there is not enough information to classify them as class 4.||
|Class 3B: Variant(s) of unknown significance: Class 3B VUS are variants for which there is insufficient evidence to classify the variant as either disease causing or likely benign.||
|Class 3C: Variant(s) of unknown significance with low clinical significance: Class 3C VUS are variant(s) for which the evidence suggests they are likely to be benign.||
|No variant of significance was found.||
I carry a pathogenic variant but I have no symptoms. What does this mean?
If you carry a pathogenic variant (gene change that causes a heart condition) but have no symptoms, you have an increased risk of developing a heart condition. This risk will vary depending on the type of variant you have and the type of cardiac condition. It is recommended that you have regular check ups with your doctor.
It also means that you have a 50% chance of passing this variant to any biological child. VCGS can provide support when discussing genetic results with family members.
What happens to my genetic information?
Cardiac panel testing generates a large amount of genetic information. Access to and storage of genetic information is strictly governed by national laboratory and health privacy guidelines. You will be required to sign a consent form for panel testing and this form describes how your information can be used.