CF carrier screening

1 in 2,500 Caucasian individuals has cystic fibrosis, and 1 in 25 individuals is a carrier of a cystic fibrosis gene fault. If both members of a couple are healthy carriers of cystic fibrosis gene faults, there is a 1 in 4 chance for each of their children to have the condition.

Screening

The screening for cystic fibrosis is done from a painless cheek-brush sample.  We test for the twelve most common gene faults that result in severe cystic fibrosis. This will diagnose approximately 80% of carriers among the Caucasian community.

The screening packs contain all that is required for screening; an information brochure, request form (which must be signed by a medical practitioner), cheek-brush, instructions on sampling and payment forms.

Cost

Because cystic fibrosis carrier screening is not covered by Medicare, we are obliged to charge for the testing to cover our costs ($200 per person screened).  This cost is about the same as the out of pocket expense for a first trimester screen for Down syndrome.

Individuals only need cystic fibrosis testing once, so this cost does not need to be repeated in subsequent pregnancies.  Individuals can collect their own sample and mail it to the laboratory in the pre-paid envelope provided.

Genetic Health Services Victoria will provide genetic counselling free of charge to any individual identified as a carrier.

Background

The screening program was launched in January 2006 together with Cystic Fibrosis Victoria which is fully supportive of this endeavour in the interest of patient choice.  Over 4000 couples have had their risk for cystic fibrosis quantified through the program and 11 couples have been found to both be carriers of a cystic fibrosis gene fault.

If both members of a couple are carriers they are offered genetic counselling, support and the opportunity to see a cystic fibrosis specialist.  There are a number of options for couples where both are carriers of cystic fibrosis gene faults.

Contact

We are very pleased to answer any questions you may have about the program and to provide you with a testing pack.  Please arrange this by contacting me on (03) 8341 6352. Further information about our program can also be found at cfscreening.com.au.

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