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  • Q&A with Australian Health Practitioners

    Are there specific tests for cystic fibrosis?

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    Cystic Fibrosis Respiratory Health
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  • Amanda Deadman

    Social Worker

    As a Social Worker for Cystic Fibrosis NSW I am able to provide support, education and information for those who have been diagnosed with CF.I … View Profile

    In Australia all newborn babies are tested for CF. A small blood sample is taken about 3 days after birth, this will test for the presence of the most common CF gene Delta F 508. If two copies of this gene are found a letter is sent to the local doctor or paediatrician requesting that the baby be referred to the CF clinic. If only one copy of the Delta F 508 gene is found the baby is referred for a sweat test.  A sweat test will be done to measure the amount of sodium(salt) and chloride in the sweat and it is with this test that the diagnosis will be made.

    Carrier testing is also available for those who believe they may be a carrier of the gene.
    This is done by taking a blood sample, to determine if there is a presence of a CF gene. There are some common CF genes like Delta F 508, but there are also some rare ones. It is not possible to test for all rare gene types, there are currently about 22 genes that can be tested for in Australia. These 22 genes cover about 80% of the mutations found.
    There are genetic counsellors available to discuss any genetic testing and results.

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