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CF Carrier Screening Panel

Cystic fibrosis carrier testing uses a blood sample to check for common CFTR gene mutations. It helps determine whether a person carries or is affected by cystic fibrosis.

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Typical turnaround
1-3 business days
Starting price
From $1398
Results
Confidential, online

Quick answer

Cystic fibrosis carrier testing is a genetic blood test that looks for mutations in the CFTR gene associated with cystic fibrosis. It is often ordered by people who want to understand their carrier status, particularly before or during family planning, or when there is a family history of the condition. The test examines a defined set of common mutations and does not detect every possible variant.

What this test measures

Cystic fibrosis is an inherited condition caused by mutations in the CFTR gene, which affects a protein that regulates salt and water movement in cells. Carriers typically have one mutation and do not develop the condition, but they can pass the mutation to a child. Testing helps clarify carrier status when combined with genetic counseling and a provider evaluation.

The test uses a blood sample to analyze a panel of mutations, commonly including F508del, G542X, G551D, R117H, W1282X, and N1303K, along with other variants covered by the laboratory panel, such as the 5T variant. Results are reported as positive or negative for the mutations tested. A negative result lowers, but does not eliminate, the chance of being a carrier.

People may order this test when planning a pregnancy, when a partner is known to carry a CFTR mutation, or when there is a family history of cystic fibrosis. It can also be requested after a newborn screening result raises a question. A qualified healthcare provider or genetic counselor should interpret results and explain what they mean for family planning.

  • CFTR gene mutation panel
  • F508del (delta F508) mutation
  • G542X mutation
  • G551D mutation
  • R117H mutation
  • W1282X mutation
  • N1303K mutation
  • 5T variant (IVS8 polyT)
  • Additional panel-specific CFTR variants

Why people order this test

  • Understand personal carrier status
  • Support family planning discussions
  • Family history of cystic fibrosis
  • Partner known to carry a CFTR mutation
  • Follow-up after a newborn screening question
  • Preparation for genetic counseling
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How to prepare

No fasting is required. The test uses a blood sample collected from a vein, and no special timing is usually needed. Follow the laboratory instructions and share any relevant family history with your healthcare provider.

Understanding your results

Results are typically available within 1-3 business days, depending on the laboratory. A positive result means one or more of the tested mutations were found; a negative result means the tested mutations were not detected and a residual carrier risk remains. Genetic counseling is recommended for interpretation.

CF Carrier Screening Panel by state

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Frequently Asked Questions

What does it mean to be a carrier?

A carrier has one copy of a CFTR mutation and usually does not develop cystic fibrosis, but can pass the mutation on to a child.

Does a negative result mean I cannot have a child with CF?

No. The panel covers common mutations but not all possible variants, so a small residual chance remains. A genetic counselor can explain this in detail.

Who should consider this test?

People with a family history of cystic fibrosis, those whose partner is a known carrier, and anyone planning a pregnancy may discuss testing with a provider.

Is this the same as newborn screening?

No. Newborn screening is a public health program performed after birth, while this test evaluates carrier status in an individual using a defined mutation panel.

Does the test require fasting?

No. Fasting is not required for CFTR mutation testing.

Ready to get tested?

Order online and visit a collection site near you, or choose a mail-in kit. No referral and no insurance required.

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Medical disclaimer. The information on LabOrdering.com is educational only and is not medical advice, diagnosis, or treatment. Reference ranges and clinical guidance vary between laboratories. Always consult a qualified healthcare provider about your own results and care.