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CF gene mutation testing

Also known as: Cystic fibrosis (CF) genotyping, CF DNA analysis, CF gene mutation panel, molecular genetic testing
Related tests: Sweat chloride, immunoreactive trypsin (IRT)
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 infant has meconium ileus (no stools in the first 24 to 48 hours of life) or when a person has symptoms of CF; if a person has a positive sweat chloride or IRT test or a close relative who has been diagnosed with CF; when a patient is undergoing genetic counselling and wants to find out if they are a CF carrier; or for prenatal diagnosis

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



This page was last modified on

September 4, 2007

 

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