What is Cystic Fibrosis?
Cystic Fibrosis, also known as mucoviscidosis, is an inherited disorder that is caused by mutations in the CFTR gene. These genetic changes cause the body to produce mucus that is thicker and more sticky than normal. As a result, the disorder affects many organs, but is mainly noticed through respiratory (lung) problems, with common symptoms being overproduction of mucus, persistent coughing and lung infections. Other organ systems affected includes the digestive system (including pancreas and liver), reproductive organs, and sweat glands.
Cystic Fibrosis is inherited in a recessive manner, which means that both parents must pass on the defective gene for any of their children to get the condition. But did you know that Cystic Fibrosis is the most common Genetic Disease in the Caucasian Population?
In Australia, one in every 2,500 babies are born with CF, approximately one every four days! On average, one in every 25 people carry a defective CF Gene (most of whom are unaware that they are carriers).
Because carriers of CF are unaffected and show no symptoms they are not aware that it may be a very real risk. Any of us could be a carrier without even knowing. That’s approximately 1 million unaware carriers making this test an absolute must for all expecting parents and couples planning to conceive.
How is our test more effective than others on the market?
Our Cystic Fibrosis testing is performed using massive parallel sequencing (next generation sequencing) and evaluates the DNA sequence of all 27 exons within the CFTR gene. Our technology detects a significantly greater number of disease-causing variants, resulting in more carriers being identified in individuals of all ethnicities.
What is required for testing?
You will need a referral letter from your GP or Genetic Counsellor for this test. Once you have confirmed that you wish to proceed with testing, we can provide you with the necessary referral form to be filled out and signed by your Doctor or Genetic Counsellor.
All we require for this test is a small blood sample which will be taken by a medical professional. We can provide you with details for one of our affiliated collectors based on your location.
Please note that Cystic Fibrosis screening requires counselling from a certified professional, who can guide through the testing process and provide information about the testing. Please contact our customer care team if you need help finding a genetic counsellor.
Ordering your test:
The cost for the Cystic Fibrosis DNA Screening Test for one (1) Person is $625 . Discounts are offered for multiple orders and couples.
We arrange everything for you. Upon confirmation of your order we will send you an email with the Referral forms your Doctor will need to sign and return to us by Fax, the email will also include a recommendation for one of our affiliated Pathology Collection Centre close to you. We will arrange your blood collection appointment for you.
Results will be available within 14-21 working days after receipt of specimen in our Brisbane laboratory and will be emailed to your referring GP or Genetic Counsellor as soon as they are available.
Note: Your only additional cost will be the blood collection fee that may vary based on State/Location. Once your order is received, we will email you to confirm the order and advise the applicable fee for sample collection. Alternatively, you may contact our office for a quote.