Cystic Fibrosis Carrier Screen Gene Analysis
This test analyses the CFTR gene to determine cystic fibrosis carrier status. It helps assess the risk of passing cystic fibrosis to future children.
Turnaround time
2 weeks
Biomarkers count
1
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Details about Cystic Fibrosis Carrier Screen Gene Analysis
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
- Select your nearest UK clinic and book an appointment.
- A clinician or phlebotomist collects a venous blood sample.
- The sample undergoes CFTR gene analysis.
- Results are delivered securely online.
Option 2 – Home or Hotel Phlebotomy (+£60)
- Book a UK-wide home or hotel visit at a convenient time.
- A trained phlebotomist collects your blood sample on-site.
- The sample is transported to the laboratory.
- 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.
How It Works
Simple steps to get your results
Book Online
Choose your test online and book in seconds. Select your preferred clinic location or home visit option.
Visit or Test at Home
Attend one of our UK or London clinics, arrange a home nurse visit, or use a finger-prick kit where available.
Get Your Results
Your sample is analysed by accredited UK laboratories, with secure results delivered directly to you.
Take control of your health with London Blood Tests
WhatsApp UsHow to Prepare for Your Test
Follow these guidelines for accurate results
Sample Timing
Where possible, attend your blood test between 7am and 12pm. Please wait until any short-term illness or infection has fully resolved before testing. Avoid intense exercise for 24–48 hours beforehand, as this can affect certain markers.
Fasting & Hydration
Fasting is not always required, but some tests may recommend it. If fasting is advised, avoid food for 8–12 hours before your appointment and drink water only. Stay well hydrated, as this helps with sample collection and accuracy.
Medications & Supplements
Continue prescribed medications unless advised otherwise by your clinician. Avoid vitamin, mineral, or biotin supplements for at least 24–48 hours before your test, as these can interfere with results. If you are unsure about any medication or supplement, please let us know before your appointment.
Hormones & Menstrual Cycle
For hormone-related tests, timing within your menstrual cycle may be important. If relevant, follow any specific guidance provided on your test page.
If you have any questions or special circumstances, our team is happy to advise before your appointment.