CF Gene Mutation Testing

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Also known as: Cystic fibrosis (CF) genotyping; CF DNA analysis; CF gene mutation panel; molecular genetic testing

At a Glance

Why Get Tested?

To detect cystic fibrosis (CF) genetic mutations to establish CF carrier status or to establish the diagnosis of CF in an individual

When to Get Tested?

When a newborn baby has no stools in the first 24 to 48 hours of life (meconium ileus) or when a person has symptoms of CF; if a person has a positive sweat chloride or an immunoreactive trypsin test or a close relative who has been diagnosed with CF; or when a patient is undergoing genetic counselling and wants to find out if they are a CF carrier. In addition, high risk carrier couples may have the test prior to in vitro fertilization so that the test can be carried out before implantation.

Sample Required?

A blood sample taken from an infant's heel; a spot of blood that is put onto filter paper; or a blood sample taken from a vein in the arm