Genetic Test FAQs
We are often asked about preparation for tests, fasting and tests for children. Below is a list of the most common things we are asked.
For most genetic tests you will not need to fast. However, if you doctor has asked you to fast or they have written ‘fasting’ on your request form, it is required.
Unless your doctor advises otherwise, you should continue taking any current medication.
Many of our collection centres are open on Saturday morning and a limited number are open on Sunday morning. To find a weekend collection centre please contact your local collection centre.
If you are elderly, infirm or recovering from major surgery, your doctor may request our collectors to visit your home. However, this is a limited service for patients with a genuine need and may incur a fee. Please contact your local collection centre.
Children need special testing and collection services as well as extra support in preparing for their tests.
Children between five and 12 years can have their collection performed at any of our centres. However, we strongly recommend talking to the centre ahead of time and making an appointment to ensure a stress-free experience.
Our littlest patients
We provide special collection for the under-fives performed by collectors who have been trained in advanced paediatric care. Please call ahead to make an appointment.
A blood test involves taking blood from a vein in your arm. Our collection staff are highly trained in this, and all our equipment is sterile.
It is vital we ensure all your personal details are correct. All patients must provide a Medicare card as part of the identification process. Our collector is required to show you labelling on the specimens, to confirm all your details.
If you feel uncomfortable, inform the collector. You may prefer to lie down if you are feeling faint or nervous. Once a suitable vein is found, the collector will cleanse the skin with an alcohol swab and then insert a sterile needle into your vein to obtain the sample.
Some tests may require more than one tube of blood collected. All tubes will be labelled with your name and date of birth. After the needle has been removed, pressure should be applied to the site to minimise bleeding.
It is important that you avoid heavy lifting or strenuous exercise over the next 24 hours to avoid bruising or bleeding. If you have any concerns, please contact us prior to attending our collection centres.
Your doctor has requested the pathology tests to be carried out. If you are concerned about the necessity of these tests, we encourage you to discuss this with your doctor.
Our collection staff are highly trained and making you feel at ease is their priority. We encourage you to lie down if you are feeling uncomfortable. Relaxation techniques such as deep breathing may also be helpful.
Please inform our staff if you are feeling anxious so that we may assist you any way we can.
No. Our collection centres use single-use sterile equipment when taking blood samples. Our specimen collection staff are highly trained in infection control.
All our collection staff are extensively trained. They learn to take samples from a wide range of patients, including those with 'difficult' veins.
Our staff only make two attempts at taking your blood. If unsuccessful, you may be requested to return another time. This may seem inconvenient, but it reduces the risk of problems and minimise discomfort.
Some tests can be performed on such samples but typically they are not as useful as the quantity of DNA can be low and quality substandard compared to blood. If your doctor has indicated that such a sample is preferred, please call your local collection centre to ensure they have the necessary equipment to collect such samples.
- Our collection staff confirm your details with you at every visit, to ensure we have all the correct and current information.
- Each sample is carefully labelled after collection.
- A laboratory number is assigned to your form and samples to ensure they are not mixed up. This number is unique and ensures the correct tests are performed on each sample.
- We have other checks in place throughout the testing procedure to ensure the testing is performed at the highest possible standard.
Genetic test results have highly variable times to produce results and that may include transport of samples from one state to another specialised laboratory. Please visit our test listing for an indication of when you can expect the results to be made available to your doctor. Please contact your doctor for your results.
We recommend that you discuss your results with your referring doctor and ask them for a copy of your results during your consultation.
This information is designed for a person with a cardiovascular disorder who is considering genetic testing. The decision to have such testing should not be taken lightly. It is essential that the issue be discussed with an experienced medical specialist or genetic counsellor.
The purpose of a genetic test is to identify the underlying genetic error responsible for your cardiovascular disorder. If a genetic error is identified, this would indicate that your disorder is indeed familial, and that your relatives are at risk of carrying the same genetic error. Your relatives could then seek genetic testing if they wish. The identification of the underlying genetic error can also provide your medical specialist with more information to guide recommendations for your treatment.
The heart pumps blood to the lungs and then to the body. Abnormalities in the heart or in the large veins and arteries taking blood to and from the heart are described as ‘cardiovascular disorders’.
Cardiovascular disorders can be due to:
> Abnormal weakness of cardiac muscle (cardiomyopath)
> Abnormal cardiac rhythm (arrhythmia)
> Progressive abnormalities in the large arteries leading to the lungs (pulmonary hypertension) or to the rest of the body (aortic disorder)
> Other abnormalities in medium-sized arteries (vasculopathies)
> Inherited high cholesterol (hyperlipidaemia) or abnormalities in cholesterol metabolism
In each case, the disorder can be due to a combination of inherited genetic errors, environmental factors and chance. The significance of genes, environment and chance will vary with different disorders and in different patients.
A ‘familial cardiovascular disorder’ is a disorder that runs in the family due to an inherited genetic error. If an inherited genetic error is the major underlying cause of your cardiac disorder, the abnormal gene may have been inherited by your relatives. Relatives who have inherited the abnormal gene may also be at risk of developing the disorder.
Cardiac genetic testing with Sonic Genetics involves having a blood sample collected from you, the affected person. The genetic material in your blood sample is then examined to identify an error in any one of the genes associated with your diagnosis.
As the outcome of genetic testing may have medical and psychological implications for you and your family, we require pre-test genetic counselling and informed consent prior to testing. This is arranged by Sonic Genetics and is provided to you as part of your cardiac genetic test.
Your doctor will tell you about the result of your test. If one or more genetic errors are found, your
Your doctor will tell you about the result of your test. If one or more mutations are found, your doctor will outline how this information explains your diagnosis and the medical implications for you and for your treatment.
The identification of a mutation paves the way for your relatives to have genetic testing to clarify their risk. This test is very accurate in determining the presence or absence of the family’s mutation. Of course, this testing is entirely voluntary. Genetic testing of an unaffected relative for such a mutation can raise a number of significant medical, psychological, legal, and financial considerations. For this reason, an Australian laboratory can only do such tests after the relative has had professional pre-test genetic counselling. Genetic counselling services are available in each State and Territory of Australia.
If a mutation is not identified by the laboratory, you will be advised of this by your doctor. This result reduces the probability that your disorder is familial, but it does not exclude this possibility. Your doctor may still make recommendations regarding the medical care of your relatives.
The price for a genetic test for cardiovascular disease is typically $1,000 - $3,000. The current prices for our tests are provided here on this site. At this stage, these costs are not rebated by Medicare or private health insurers.
These tests are expensive because they involve exhaustive assessment of many different genes while the laboratory searches for the genetic cause for your cardiovascular disorder. Once a mutation has been found, relatives can be tested for the presence or absence of the specific mutation already identified in the family, and this is much cheaper. In other words, the expensive test need only be done once, and it potentially benefits many members of the extended family. Some families share the cost of testing with their relatives.