What is the Cystic Fibrosis Carrier Screen Gene Analysis?

The Cystic Fibrosis Carrier Screen Gene Analysis is a genetic blood test that examines the CFTR gene, which is responsible for cystic fibrosis. Cystic fibrosis is an inherited condition affecting the lungs, digestive system and other organs.

Carriers typically have no symptoms but can pass a faulty CFTR gene to their children. If both parents are carriers, there is a 1 in 4 chance that a child will be affected. This test identifies whether an individual carries a CFTR gene variant associated with cystic fibrosis.

The test is commonly used in family planning, preconception screening and antenatal care.

Why do I need a test for Cystic Fibrosis Carrier Status?

You may need this test if you are planning a pregnancy, have a family history of cystic fibrosis or if your partner is a known carrier. Many carriers are unaware of their status because they do not experience symptoms.

Identifying carrier status allows informed reproductive decisions, early counselling and, where appropriate, partner testing to assess combined risk.

Scenarios where testing is recommended:

• Planning a pregnancy
• Partner known to be a cystic fibrosis carrier
• Family history of cystic fibrosis
• Antenatal or preconception screening
• Assisted reproduction planning
• Donor screening
• Unexplained cystic fibrosis in relatives
• Genetic counselling assessment

Benefits of the Cystic Fibrosis Carrier Screen Gene Analysis

• Identifies carrier status accurately
  Detects CFTR gene variants.
• Supports informed family planning
  Helps assess inherited disease risk.
• Guides partner testing decisions
  Determines need for further screening.
• Provides reassurance when negative
  Reduces uncertainty around genetic risk.
• Supports early genetic counselling
  Enables proactive reproductive planning.
• Widely used in antenatal care
  Established genetic screening approach.
• Single blood test required
  No complex preparation needed.
• Relevant for all ethnic backgrounds
  CFTR variants occur worldwide.

Step-by-Step: How Testing Works

Choose your preferred testing method

You can attend one of our UK partner clinics or arrange a home or hotel visit with a mobile phlebotomist.

Option 1 – In-Clinic Blood Draw

1. Select your nearest UK clinic and book an appointment.
2. A clinician or phlebotomist collects a venous blood sample.
3. The sample undergoes CFTR gene analysis.
4. Results are delivered securely online.

Option 2 – Home or Hotel Phlebotomy (+£60)

1. Book a UK-wide home or hotel visit at a convenient time.
2. A trained phlebotomist collects your blood sample on-site.
3. The sample is transported to the laboratory.
4. Results are uploaded digitally without the need to travel.

Your Results Explained

No CFTR Variant Detected

No common cystic fibrosis gene variants identified.
This significantly reduces the likelihood of being a carrier, though it cannot eliminate risk entirely.

Carrier Detected

One CFTR gene variant identified.
You are a carrier but do not have cystic fibrosis.
Partner testing and genetic counselling may be recommended.

Two Variants Detected

Two CFTR variants identified.
This may indicate cystic fibrosis or a CFTR-related condition and requires specialist follow-up.