Cystic Fibrosis - CFTR gene targeted mutation testing (76.5%-85%) - PCR

This test analyses the CFTR gene, which is responsible for cystic fibrosis, for a panel of the most common disease-causing variants. Rather than checking a single variant or sequencing the entire gene, it targets a defined set of the variants known to cause cystic fibrosis most frequently, detecting an estimated 76.5 to 85 percent of cases. It uses a reliable method (PCR reverse hybridisation) to test for many variants at once.

Cystic fibrosis is an inherited condition affecting the lungs, digestive system, and other organs. It is caused by variants in the CFTR gene, and while one variant (F508del) is by far the most common, many others also contribute. This panel covers a broad selection of these common variants, offering a good balance between a single-variant test and full gene sequencing.

What it can help assess

• Carrier status: identifying whether you carry one of the common CFTR variants, which is important for family planning
• Supporting a diagnosis: helping to confirm or investigate cystic fibrosis alongside other tests
• Understanding family risk: particularly relevant if you have a family history of cystic fibrosis or a known variant in the family

Understanding the results

Cystic fibrosis is a recessive condition, meaning a person needs to inherit two faulty copies of the CFTR gene, one from each parent, to have the condition. This test can identify:

• No variants detected: none of the variants on the panel were found
• One variant (carrier): you carry a variant but do not have cystic fibrosis from it. If your partner is also a carrier, there is a chance of passing the condition to a child
• Two variants: consistent with a diagnosis of cystic fibrosis, which would need clinical confirmation

An important note on interpretation

This panel covers the most common CFTR variants but not every possible one. It detects an estimated 76.5 to 85 percent of cystic fibrosis-causing variants, which means a negative result greatly reduces, but does not completely rule out, the chance of being a carrier or being affected. If a more comprehensive assessment is needed, full CFTR gene sequencing can detect a wider range of variants. Because this is a genetic test with lifelong implications for you and your relatives, any positive or significant result should be discussed with your GP or a genetic counsellor.

Why it matters

This panel offers a thorough yet cost-effective assessment of your genetic risk of cystic fibrosis, covering the great majority of common variants. It is well suited to carrier screening and family planning, and provides a middle option between single-variant testing and full gene sequencing. Given the family implications, professional interpretation and, where appropriate, genetic counselling are recommended.