Cystic Fibrosis Mutation Detection Test
Short Name: CF Mutation Detection Test
Also known as: CFTR Gene Mutation Test, Cystic Fibrosis Genetic Test
Cystic Fibrosis Mutation Detection Test test available at DNA Labs India for ₹12,000. Uses PCR, Sequencing on 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube OR 10 mL Amniotic fluid in a sterile screw capped container. samples. Results in Report available in 6 weeks after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To detect mutations in the CFTR gene for diagnosis of Cystic Fibrosis, carrier screening, and genetic counseling.
- Test Code
- 458
- Price
- ₹12,000
- Sample Type
- 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube OR 10 mL Amniotic fluid in a sterile screw capped container.
- Result Time
- Report available in 6 weeks after sample collection.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
Ensure proper sample collection. Duly fill out the Genomics Clinical Information Requisition Form (Form 20) as mandatory.
Method: Venipuncture for blood, amniocentesis for amniotic fluid
Laboratory Analysis
Venipuncture for blood or amniocentesis for amniotic fluid by a trained professional.
Report Delivery
Ship samples refrigerated. Do not freeze. Process promptly for analysis.
Timeline: Report available in 6 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the CFTR gene for diagnosis of Cystic Fibrosis, carrier screening, and genetic counseling.
How to Prepare
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
- For blood: 4 mL whole blood in Lavender top (EDTA) tube.
- For amniotic fluid: 10 mL in sterile screw capped container.
- Ship refrigerated. DO NOT FREEZE.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic testing for Cystic Fibrosis is crucial for family planning and management. If you have a family history or symptoms, consult your healthcare provider for appropriate testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Samples not collected properly
- Contaminated samples
- Samples not shipped refrigerated
- Inadequate sample volume
Understanding Your Results
Negative
No pathogenic CFTR mutations detected. Risk for Cystic Fibrosis is low, but genetic counseling is advised for comprehensive assessment, as rare mutations may not be detected.
Positive
Pathogenic CFTR mutations identified. This may indicate Cystic Fibrosis or carrier status. Consult a genetic counselor or healthcare provider for further evaluation, management, and family planning.
If you have a family history of Cystic Fibrosis, are experiencing symptoms such as persistent respiratory or digestive issues, or if the test result is positive for mutations, consult a healthcare provider or genetic counselor promptly.
Limitations
- ⚠May not detect all mutations, especially novel or rare variants
- ⚠Does not predict disease severity
- ⚠Carrier status may not be fully determined in all cases
Risks & Considerations
- ●Minimal risks from blood draw, such as minor discomfort or bruising.
- ●For amniotic fluid collection, there is a small risk of complications from amniocentesis, including infection or miscarriage.
Interfering Factors
- ●Sample contamination
- ●Improper sample handling
- ●DNA degradation
Compare With Similar Tests
| Test | Cystic Fibrosis Mutation Detection Test | Sweat Test | Newborn Screening |
|---|---|---|---|
| Comparison | Cystic Fibrosis Mutation Detection Test | Measures chloride levels in sweat to diagnose CF; genetic test identifies CFTR mutations for confirmation and carrier screening. | Often includes immunoreactive trypsinogen (IRT) test; genetic testing provides specific mutation analysis for early diagnosis. |
Frequently Asked Questions
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