CFTR F508del Mutation Detection for Cystic Fibrosis

Specimen Required

Fasting Required

Purpose of the Test

The CFTR F508del mutation detection test is used to identify a common genetic mutation that causes cystic fibrosis (CF). This test can help diagnose CF, determine the severity of the disease, and provide information about the likelihood of passing the disease to offspring.

When this test is required

The test may be requested when an individual is exhibiting symptoms of CF, has a family history of the disease, or is a carrier of the F508del mutation. It may also be requested as part of newborn screening programs.

What the Test Detects

The test detects the F508del mutation in the CFTR gene, which is responsible for producing a protein that regulates the transport of chloride ions in and out of cells. The F508del mutation results in a defective protein that cannot function properly, leading to the symptoms of CF.

Preparation for the Test

There are no special preparations required for this test.

Sample Requirements

The test requires a blood sample, which is typically taken from a vein in the arm.

Additional Notes

While the F508del mutation is the most common cause of CF, there are many other mutations in the CFTR gene that can cause the disease. This test only detects the F508del mutation, and additional testing may be needed to identify other mutations.

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