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CF Gene Mutations Testing

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Also known as: Cystic Fibrosis Genotyping; CF DNA Analysis; CF Gene Mutation Panel; CF Molecular Genetic Testing; Cystic Fibrosis Transmembrane Conductance Regulator Mutation Analysis; CFTR Mutation Analysis
Formal name: Cystic Fibrosis Gene Mutation Panel

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At a Glance

Why Get Tested?

To detect cystic fibrosis (CF) gene mutations; to screen for or help diagnose CF; to determine whether you are a carrier of a CF genetic mutation and to evaluate the risk of having a baby with CF

When to Get Tested?

When screening newborns for CF (all U.S. states screen for CF and some states use this test for screening); when an older child or adult has signs and symptoms of CF or a positive CF screening test; when someone wants to know their carrier status, such as a woman who is pregnant or considering pregnancy for the first time

Sample Required?

A blood sample drawn from an infant's heel by collecting a spot of blood onto filter paper; for older children or adults, a blood sample obtained by inserting a needle into a vein in the arm; sometimes a scraping of the inner cheek (buccal swab) or, for prenatal testing, amniotic fluid obtained through amniocentesis or a chorionic villus sample

Test Preparation Needed?