Overview

Identification of genetic causes of cardiac disorders can be lifesaving. Establishing a genetic cause for such conditions can affect further patient testing, management and surveillance. This information can also be important for immediate family members, who may be at risk of developing heart problems.

VCGS offers exome and genome sequencing for the diagnosis of a wide range of cardiac conditions. Information about the conditions we test for, and the phenotype specific gene panels (via PanelApp Australia) can be found below.

  • For more information about testing via exome or genome sequencing, specimen requirements and test ordering, please refer to our genomic sequencing page.
  • Information about MLPA screening for genes associated with cardiomyopathy, long QT and Brugada syndrome is available below.
What conditions does this test look for?

Heart disorders affect the normal function of both the heart muscle and the large blood vessels that carry blood to and from the heart. Below are the conditions we test for, linking through to information about the pre-curated, phenotype specific panels used by VCGS (via PanelApp Australia).

Supplementary MLPA cardiac testing is performed upon request when exome testing of cardiac panels is negative and a copy number variant is suspected.

Supplementary Cardiac Testing

MLPA screening may be performed when exome testing of cardiac panels is negative and a copy number variant is suspected.

View Test & Specification requirements

MLPA screening may be performed when exome testing of cardiac panels is negative and a copy number variant is suspected.

View Test & Specification requirements

MLPA screening is performed upon request when panel testing is negative and a copy number variant is suspected.

View Test & Specification requirements

MLPA screening may be performed when exome testing of cardiac panels is negative and a copy number variant is suspected.

View Test & Specification requirements
How do I arrange a test?

Testing is arranged via a cardiologist, specialist cardiac genetics clinic or general genetics clinic. Testing typically takes 3-4 months. Please see our genomic sequencing page for information about ordering tests.

Contact us for more information.

P: 1300 118 247
E: [email protected]

Frequently asked questions

How will I get my results?

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
  • At-risk unaffected relatives can be offered predictive gene testing.
  • Other affected relatives can be offered confirmatory testing.
  • Prenatal diagnosis for the pathogenic variant is possible.
Class 4: Likely pathogenic variant:
The level of evidence that likely pathogenic variants are disease-causing is very high.
  • At-risk unaffected relatives can be offered gene testing in conjunction with clinical screening.
  • Other affected relatives can be offered confirmatory testing.
  • The variant may be considered for use in prenatal diagnosis after detailed discussion with a clinical geneticist or genetic counsellor.
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 3A variants cannot be used for predictive testing or prenatal diagnosis.
  • Co-segregation studies in affected relatives, or testing to determine if the variant is de-novo is strongly recommended as these studies may provide additional evidence to clarify the pathogenicity of class 3A variants.
  • These variants may be re-classified based on new information; for example, family and/or functional studies (if performed).
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 3B variants cannot be used for predictive testing or prenatal diagnosis.
  • In selected families, co-segregation studies in affected relatives may help to clarify pathogenicity of a class 3 VUS.
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.
  • Class 3C variants cannot be used for predictive testing or prenatal diagnosis.
No variant of significance was found.
  • Reanalysis options may be considered if the family history strongly indicates a genetic cause.

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 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.