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Carrier testing made easy for you and your patients.

Targeted single variant

Single variant tests look for a specific variant in one gene. The selected variant is known to cause a disorder (for example, the specific variant in the HBB gene that causes sickle cell disease). This type of test is often used to test family members of someone who is known to have a particular variant, to determine whether they have a familial condition.

Single gene

Single gene tests look for any genetic changes in one gene. These tests are typically used to confirm (or rule out) a specific diagnosis, particularly when there are many variants in the gene that can cause the suspected condition. This test is typically used to provide a genetic diagnosis to someone who has presented with specific clinical features.

Gene panel

This is currently the only type of testing at Eugene.

Panel tests look for variants in more than one gene. This type of test is often used to pinpoint a diagnosis when a person has symptoms that may fit a wide array of conditions, or when the suspected condition can be caused by variants in many genes. (For example, there are hundreds of genetic causes of epilepsy.) Panels can also be used to test healthy individuals for a broad range of conditions. At Eugene, we are passionate about empowering you with proactive health information. Having information at the right time is essential to enable you to make information health choices. That is why we divide our tests into groups that impact specific areas of health.

Whole exome sequencing / whole genome sequencing

These tests analyse the bulk of an individual’s DNA to find genetic variations. Whole exome or whole genome sequencing is typically used when single gene or panel testing has not provided a diagnosis, or when the suspected condition or genetic cause is unclear. Whole exome or whole genome sequencing is often more cost- and time-effective than performing multiple single gene or panel tests.

Why aren’t all genetic tests equal?

1.

Clinical-grade genetic testing takes time with specific expertise required and quality assurance processes at our world class laboratory.

2.

There are many many ways to look at, analyse and interpret genetic information - not all genetic tests provide diagnostic grade information which means you should only make medical decisions when results are produced by a certified laboratory. Eugene only works with internationally accredited laboratories that are CLIA and CAP certified. That means your results can help inform your medical management and can be used directly to facilitate further testing that may be required as part of your healthcare choices.

3.

Genetic tests are designed to fulfill specific purposes - that is why genetic counselling is an essential part of choosing to have any genetic test. Genetic counselling is an opportunity for our clinical experts to understand your motivations for testing and your personal medical history and allows us to explore the potential outcomes, benefits and limitations of testing with you.