Cystic Fibrosis Mutation Screening (delF508)

This test checks the CFTR gene for F508del (also written ΔF508), the most common variant that causes cystic fibrosis worldwide. It is used to check carrier status or to support a diagnosis that a doctor suspects.

What the test looks for

Cystic fibrosis is an inherited condition that mainly affects the lungs and digestive system. It happens when both copies of the CFTR gene carry a harmful variant. People with one changed copy are carriers: they are usually healthy, but they can pass the variant to their children.

The lab uses Sanger sequencing to look for the F508del variant only. Many other CFTR variants exist, and some are more common in particular populations, so a negative result for F508del does not rule out carrying another variant. For a complete look at the gene, see CFTR full gene sequencing.

Who might consider it

• People with a family history of cystic fibrosis or a relative known to carry F508del
• Couples planning a pregnancy who want to check carrier status
• People whose doctor is investigating symptoms that may suggest cystic fibrosis, as a first step

Before you book

The test uses one blood sample. Our team can collect it at your home or office anywhere in Dubai, or you can visit our lab in Al Karama or Al Barsha 1. The lab asks for a signed consent form and your relevant medical history with the sample, as it does for all genetic tests. Results are usually ready in 15–18 days.

Understanding your results

• Not detected: you do not carry F508del. You may still carry another CFTR variant.
• One copy: you are a carrier of F508del. If your partner is also a carrier of a CFTR variant, each pregnancy has a 1 in 4 chance of a child with cystic fibrosis.
• Two copies: this is consistent with cystic fibrosis, and your doctor will discuss further tests and care.

Discuss carrier results with a doctor or genetic counsellor, especially before pregnancy.