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Cystic Fibrosis Screen (del 508)

Cystic Fibrosis del508 Genetic Testing in Slough

What is Cystic Fibrosis?
Cystic fibrosis (CF) is a serious inherited disorder that primarily impacts the respiratory, digestive, and reproductive systems. It is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which disrupts the movement of salt and water in and out of cells, leading to thick, sticky mucus buildup in the lungs and other organs.

Understanding the del508 Mutation
The del508 mutation (also written as ΔF508) is the most common CF-causing genetic mutation, accounting for approximately two-thirds of all cystic fibrosis cases in individuals of European descent. This mutation results in a faulty CFTR protein that affects normal function and leads to the symptoms of CF.

What is the CF del508 Screening Test?
A cystic fibrosis screening test for the del508 mutation involves genetic analysis to detect whether an individual carries one or two copies of the mutated gene:

One copy (carrier): The person is a carrier of the CF gene but typically shows no symptoms. However, carriers can pass the mutation on to their children.

Two copies: The individual has cystic fibrosis and may experience chronic lung infections, digestive difficulties, and fertility issues.

Why Cystic Fibrosis Screening is Important
Screening for the del508 mutation is vital for:

Early diagnosis of cystic fibrosis, allowing for prompt treatment to manage symptoms and prevent complications

Carrier detection, especially in couples planning a family

Prenatal screening, to assess the risk of passing CF to a child

Family history follow-up, for individuals with known CF cases in the family

Who Should Consider CF del508 Testing in Slough?
This genetic test is highly recommended for individuals in Slough and surrounding areas such as Windsor, Langley, Maidenhead, and Burnham who:

Have a family history of cystic fibrosis

Are planning a pregnancy or are currently pregnant

Show symptoms suggestive of CF, such as chronic cough, frequent lung infections, or digestive issues

Want to determine their carrier status for reproductive planning

What Can Be Detected

Cystic fibrosis diagnosis in individuals with two copies of the mutation

Carrier status in individuals with one copy of the mutation

Risk assessment for future children when both parents are carriers

Private Genetic Testing for Cystic Fibrosis in Slough
Clinics in Slough offer confidential and accurate CFTR genetic testing, including del508 mutation analysis. Testing is available without a referral and includes professional guidance to understand results and explore further care or genetic counselling.

Book Your CF del508 Genetic Test in Slough Today
If you are concerned about cystic fibrosis, planning a family, or have a known family history of CF, book a cystic fibrosis del508 screening in Slough. Early detection and informed decisions can significantly improve long-term health and reproductive outcomes.

There is an additional £20 phlebotomy fee for every donation.