Cystic Fibrosis: CFTR Full Gene Sequence Analysis Test
Short Name: CFTR Full Gene Sequencing
Also known as: CFTR Gene Analysis, CF Full Gene Sequencing, Cystic Fibrosis Genetic Test
Cystic Fibrosis: CFTR Full Gene Sequence Analysis Test test available at DNA Labs India for ₹30,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for confirmation on Peripheral blood / Amniotic fluid / Chorionic villi samples. Results in Reports are typically available within 4-6 weeks after the sample reaches the laboratory. You will be notified via email/SMS when your report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of CFTR full gene sequence analysis is to identify mutations in the CFTR gene that cause cystic fibrosis. This test is used for: (1) confirming a clinical diagnosis of CF in symptomatic individuals, (2) carrier screening for individuals with a family history of CF, (3) prenatal diagnosis when both parents are carriers, (4) guiding personalized treatment decisions, including CFTR modulator therapy eligibility, and (5) providing reproductive risk assessment for at-risk couples.
- Test Code
- 6079
- CPT Code
- 81223
- ICD Code
- E84.9
- Price
- ₹30,000
- Sample Type
- Peripheral blood / Amniotic fluid / Chorionic villi
- Result Time
- Reports are typically available within 4-6 weeks after the sample reaches the laboratory. You will be notified via email/SMS when your report is ready.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing for confirmation
Sample Collection
No special preparation is required. However, a doctor's prescription is mandatory for this test. Inform your doctor about any medications or supplements you are taking. For prenatal testing, the procedure will be performed by a specialist.
Method: Venipuncture or Amniocentesis/CVS by specialist
Laboratory Analysis
For blood sample: A tourniquet is applied to the arm, and a sterile needle is inserted into a vein to collect blood into an EDTA vacutainer. For amniotic fluid/CVS: A specialist will perform the procedure under ultrasound guidance; you may experience mild discomfort.
Report Delivery
After blood collection, apply pressure to the puncture site to prevent bruising. You can resume normal activities immediately. For prenatal procedures, follow your doctor's instructions regarding rest and activity restrictions.
Timeline: Reports are typically available within 4-6 weeks after the sample reaches the laboratory. You will be notified via email/SMS when your report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of CFTR full gene sequence analysis is to identify mutations in the CFTR gene that cause cystic fibrosis. This test is used for: (1) confirming a clinical diagnosis of CF in symptomatic individuals, (2) carrier screening for individuals with a family history of CF, (3) prenatal diagnosis when both parents are carriers, (4) guiding personalized treatment decisions, including CFTR modulator therapy eligibility, and (5) providing reproductive risk assessment for at-risk couples.
How to Prepare
- Blood sample: Collect in EDTA vacutainer, mix gently by inverting 8-10 times.
- Amniotic fluid: Collect in sterile container, ensure no contamination with maternal blood.
- Chorionic villi: Collect in sterile container with transport medium.
- Transport samples at room temperature (15-25°C) to the laboratory within 24 hours.
- Do not freeze samples.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"CFTR full gene sequencing is the gold standard for identifying mutations that cause cystic fibrosis. Early genetic diagnosis enables timely management and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Sample received after prolonged transit (>72 hours) without proper storage
- Maternal contamination in prenatal samples
Understanding Your Results
Negative (no pathogenic variants)
No CFTR mutations detected. CF is unlikely, but not completely ruled out if clinical suspicion is high.
Heterozygous pathogenic variant
Carrier status for CF. Individual is unaffected but may pass the mutation to offspring.
Two pathogenic variants (compound heterozygous or homozygous)
Diagnosis of cystic fibrosis confirmed.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Further testing or family studies may be recommended.
Consult a genetic counselor or physician if you have a family history of CF, if you are planning a pregnancy and want carrier screening, or if you or your child exhibit symptoms suggestive of CF. Also, consult if you have received a positive newborn screening result.
Limitations
- ⚠This test does not detect all possible CFTR mutations; rare variants in non-coding regions may be missed.
- ⚠Large deletions/duplications may not be detected by sequencing alone; additional testing may be required.
- ⚠Results should be interpreted in the context of clinical findings and family history.
- ⚠Variant of uncertain significance (VUS) may be reported; further testing may be needed.
Risks & Considerations
- ●Blood collection: minor bruising, bleeding, or infection at puncture site (rare)
- ●Amniocentesis/CVS: small risk of miscarriage (0.1-0.3%), cramping, or leakage of amniotic fluid
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal specimens
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells
- ●Bone marrow transplant may affect results due to donor DNA
Compare With Similar Tests
| Test | Cystic Fibrosis: CFTR Full Gene Sequence Analysis | CFTR Mutation Panel (Targeted) | Sweat Chloride Test |
|---|---|---|---|
| Comparison | Cystic Fibrosis: CFTR Full Gene Sequence Analysis | Targeted panels screen for common mutations (e.g., 32, 50, 100 variants) and are faster and cheaper, but may miss rare mutations. Full gene sequencing covers the entire coding region, providing higher sensitivity. | Sweat test measures chloride concentration in sweat; it is the gold standard for CF diagnosis but cannot identify carriers. Genetic testing is needed for carrier detection and prenatal diagnosis. |
Frequently Asked Questions
What is the cost of CFTR full gene sequence analysis in India?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get results?
Who should consider this test?
Does this test detect all CFTR mutations?
Is a doctor's prescription required?
Can this test be done during pregnancy?
What does a positive result mean?
What is a variant of uncertain significance (VUS)?
Is home sample collection available?
Will my insurance cover this test?
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