Cystic Fibrosis Carrier Screen Gene Analysis
A specialist CFTR carrier screen analysing 139 common cystic fibrosis variants, with reflex Poly T testing where clinically required.
Turnaround time
10 business days
Biomarkers count
1
Book your test
Choose Service Type
Professional phlebotomist comes to you
+ £{{ home_visit_fee }}
Visit our clinic for your test
{{ clinic_visit_fee > 0 ? '+ £' + clinic_visit_fee : 'Free' }}
Home Visit Details
Home visits require at least 24 hours notice.
Select a clinic: Sorting by distance…
{{ clinicAddress(clinic) }}
{{ clinicAddress(selectedClinic) }}
Select a date
Select an hour
Available time slots: {{ timeSlots.length}}
Overview of the Cystic Fibrosis Carrier Screen Gene Analysis Test
The Cystic Fibrosis Carrier Screen Gene Analysis is a specialist genetic blood test assessing 139 common variants within the CFTR gene associated with cystic fibrosis.
Cystic fibrosis is usually inherited in an autosomal recessive pattern.
A carrier generally has one disease-associated CFTR variant and usually does not have cystic fibrosis but can pass the variant to a child.
If both reproductive partners carry a disease-associated CFTR variant, there can be an increased chance of an affected pregnancy.
The laboratory screen analyses 139 common variants and performs reflex Poly T testing when required.
The test is a targeted carrier screen rather than complete sequencing of every possible CFTR variant.
A negative result therefore reduces the likelihood of carrying one of the variants included in the panel but cannot eliminate carrier risk completely.
The Cystic Fibrosis Carrier Screen Gene Analysis costs £468.
What Does the Cystic Fibrosis Carrier Screen Gene Analysis Test Check?
The test screens for common disease-associated CFTR variants and can reflex to Poly T testing when required. This test measures 1 specialist genetic investigation.
Cystic Fibrosis Carrier Screen / CFTR Gene Analysis
Screens for 139 common CFTR variants associated with cystic fibrosis, with reflex Poly T analysis performed when the laboratory protocol indicates it is required.
Who May Benefit From the Cystic Fibrosis Carrier Screen Gene Analysis Test?
CFTR carrier screening may be useful during reproductive planning or when personal or family history makes cystic fibrosis carrier status relevant.
People planning a pregnancy - Carrier screening can provide information about inherited cystic fibrosis risk.
People undergoing fertility treatment - CFTR carrier testing may form part of selected reproductive investigations.
People whose partner is a known cystic fibrosis carrier - Testing the other partner can provide additional reproductive-risk information.
People with a family history of cystic fibrosis - Relevant family history can increase the value of targeted testing.
People with a known CFTR variant in the family - The familial genetic report should be supplied where available.
People referred for genetic counselling - Carrier results can provide information for reproductive discussions.
How to Prepare
The laboratory specifically requests relevant clinical and family history for CFTR testing.
A targeted carrier result is most useful when known family variants and partner results are available for comparison.
Symptoms and Reasons to Consider the Cystic Fibrosis Carrier Screen Gene Analysis Test
Carrier screening is usually performed because of reproductive planning or family history rather than symptoms.
A partner has been identified as a cystic fibrosis carrier - Testing the other partner can help clarify reproductive risk.
A close relative has cystic fibrosis - Family history can increase the likelihood of carrier status.
A known CFTR variant has been identified in the family - The exact variant should be provided to the laboratory where possible.
Preconception genetic screening - Some people choose carrier assessment before pregnancy.
Fertility treatment planning - Genetic screening may be requested before assisted reproduction.
Specialist genetic recommendation - A genetics or fertility clinician may advise CFTR testing for a specific reason.
Being a carrier usually does not mean that a person has cystic fibrosis.
A negative targeted carrier screen does not exclude every rare CFTR variant because the assay covers a defined set of common variants.
How to Book Your Cystic Fibrosis Carrier Screen Gene Analysis Test
The test can be arranged as a specialist private genetic blood test through London Blood Tests.
Choose the Cystic Fibrosis Carrier Screen Gene Analysis
Select the £468 CFTR carrier test.
Select your sample collection option
Choose in-clinic phlebotomy (+£35) or a home visit from a phlebotomist (+£60).
Attend your appointment
The required genetic blood specimen is collected and relevant family history can be documented.
Laboratory analysis
The laboratory analyses the 139 common CFTR variants and performs reflex Poly T testing where required.
Receive your results securely
Your authorised genetic report is returned when analysis is complete.
When Will I Receive My Results?
Results are generally expected within approximately 10 days.
Turnaround begins when the specialist genetic sample is received and entered into laboratory processing.
Additional review may occasionally extend the reporting period.
Understanding Your Results
A positive carrier result means that a disease-associated CFTR variant included within the test has been identified.
This does not normally mean that the person has cystic fibrosis.
Where one reproductive partner is identified as a carrier, testing of the other partner may be appropriate.
A negative result means none of the targeted variants were identified according to the assay.
Because the panel does not assess every possible CFTR variant, a negative result reduces but does not eliminate residual carrier risk.
Why Book With London Blood Tests?
London Blood Tests provides private access to targeted CFTR carrier screening with specialist genetics processing.
139 common CFTR variants - The laboratory screen covers a defined panel of commonly assessed cystic fibrosis variants.
Reflex Poly T testing - Additional Poly T analysis is performed when required by the laboratory pathway.
Useful for reproductive planning - Carrier status can provide important information before or during fertility treatment.
Family history can be incorporated - Known familial CFTR results can help contextualise testing.
Specialist genetic laboratory analysis - The sample follows the dedicated genetics pathway.
Clear pricing - The Cystic Fibrosis Carrier Screen Gene Analysis costs £468.
Private Cystic Fibrosis Carrier Screen Gene Analysis Blood Test in London
London Blood Tests provides private CFTR carrier screening for £468.
The test analyses 139 common cystic fibrosis-associated variants and includes reflex Poly T testing where required.
Results are generally expected within approximately 10 days.