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The science of genetics requires precision.
In collaboration with our leading genetic experts, research partners and internationally accredited laboratories, we provide clinical-grade tests, services and support that empower you to make informed and proactive health choices for you and your family.
Collection Pathway
Why do we collect DNA from saliva samples?
No one likes needles and everyone likes the convenience of at-home care. So saliva is the obvious answer. What makes it even better is that the DNA in saliva comes from cells that are shed from the inner linings of the mouth, cheek and white blood cells. These DNA-containing cells are collected in saliva, and the DNA can be extracted to be analysed in genetic testing.Research has revealed that DNA from saliva is equivalent in quantity and purity to DNA obtained from blood, and that, when collected using the proper technique, it can be stable for years at room temperature. That means, you can collect your sample from the privacy and comfort of home and once you pop it in the post, we ensure that it safely and securely makes its way to the lab, so that you can get your results.
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.
Outcomes
Speak to a counsellor
Why don't all people with the same genetic variations have the same symptoms?
Genomic variation is just the beginning of understanding how our genes influence our health, growth and development. While genomics involves the study of heritable or acquired alterations in the DNA sequence, epigenetics is the study of heritable changes in a genes activity caused by mechanisms other than the DNA sequence itself.The concept of variable penetrance is clearly seen when multiple members of the same family have the same conditions caused by the same gene variation - yet their symptoms may appear at different stages of life and vary in severity. It is also possible that someone with a gene variation may never develop symptoms of the condition.