Lab test

Cystic Fibrosis Carrier Testing - CF Test

Cystic fibrosis carrier testing checks for the most common mutations in the CFTR gene that cause or contribute to cystic fibrosis.

Typical price

From $1398

Results

1-3 business days

Preparation

See preparation notes below

Sample

Blood draw or sample collection at a local center

Cystic fibrosis carrier testing checks for the most common mutations in the CFTR gene that cause or contribute to cystic fibrosis. It helps determine whether a person is a carrier or, in some cases, affected. Cystic fibrosis is an inherited condition affecting the lungs and digestive system. Carriers usually have no symptoms but can pass a mutation to a child. Clinicians order it for reproductive planning and family-risk assessment.

• CFTR gene mutation panel (32 common mutations) Screens for the most frequently tested cystic fibrosis mutations to assess carrier or affected status.

• People planning a pregnancy or currently pregnant.
• Individuals with a family history of cystic fibrosis.
• Couples considering reproductive carrier screening.
• People with a partner known to be a CF carrier.
• Anyone with symptoms prompting CF evaluation.

• No fasting is required for CF carrier testing.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans.
• A blood or saliva sample may be used.
• Genetic counseling is advised before and after testing.

A positive result indicates that one or more CFTR mutations were detected, which can mean carrier status. If both partners are carriers, the chance of an affected child is higher, and genetic counseling can explain options. A negative result reduces but does not eliminate the chance of being a carrier, since not every possible mutation is tested. Discuss results with a healthcare provider and genetic counselor.

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