Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) Test
Short Name: CF Mutation Screening
Also known as: CFTR Mutation Panel, CF Genetic Test, Cystic Fibrosis Carrier Screening
Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) Test test available at DNA Labs India for ₹7,500. Uses End Point PCR on Peripheral blood samples. Results in Reports are typically delivered within 3-4 business days after sample collection.. 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 this test is to identify the presence of specific CFTR gene mutations associated with Cystic Fibrosis. It is used for diagnostic confirmation in symptomatic individuals, carrier screening in those with a family history, and to inform reproductive decisions. The test also helps in identifying patients who may benefit from targeted therapies, such as ivacaftor for G551D mutations.
- Test Code
- 6076
- CPT Code
- 81220
- ICD Code
- E84.9
- Price
- ₹7,500
- Sample Type
- Peripheral blood
- Result Time
- Reports are typically delivered within 3-4 business days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
No special preparation is required. A doctor's prescription is recommended, though not mandatory for all cases. Inform your healthcare provider about any recent blood transfusions or bone marrow transplants.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. There are no restrictions post-sample collection.
Timeline: Reports are typically delivered within 3-4 business days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify the presence of specific CFTR gene mutations associated with Cystic Fibrosis. It is used for diagnostic confirmation in symptomatic individuals, carrier screening in those with a family history, and to inform reproductive decisions. The test also helps in identifying patients who may benefit from targeted therapies, such as ivacaftor for G551D mutations.
How to Prepare
- Ensure the EDTA vacutainer is properly labeled with patient details
- Sample should be transported to the laboratory at ambient temperature
- Avoid hemolysis during collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early detection of CFTR mutations enables timely intervention and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient volume (<1 ml)
- Improperly labeled samples
- Samples received after 72 hours of collection
Understanding Your Results
No mutations detected
Negative for the tested mutations. However, other rare mutations may still be present. Clinical correlation is advised.
One mutation detected (heterozygous)
Indicates carrier status for CF. If symptoms are present, further evaluation is needed.
Two mutations detected (homozygous or compound heterozygous)
Consistent with a diagnosis of Cystic Fibrosis. Confirmatory testing and genetic counseling are recommended.
Consult a geneticist or pulmonologist if you have symptoms of CF, a family history, or if you are planning a family and have concerns about being a carrier.
Limitations
- ⚠This test detects only the specified mutations and does not rule out other CFTR variants
- ⚠Negative result does not exclude carrier status for rare mutations
- ⚠Results should be interpreted in conjunction with clinical findings and sweat chloride test
- ⚠Not intended for prenatal diagnosis
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the puncture site
- ●Rare risk of infection
- ●Psychological impact of positive results
Interfering Factors
- ●Recent blood transfusion can cause false negative results due to dilution of patient's DNA
- ●Bone marrow transplantation may lead to mixed DNA profiles
- ●Improper sample handling or DNA degradation
- ●Rare mutations not covered by this panel
Compare With Similar Tests
| Test | Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) | Sweat Chloride Test | Full CFTR Gene Sequencing |
|---|---|---|---|
| Comparison | Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) |
Frequently Asked Questions
What is the cost of Cystic Fibrosis Mutation Screening in India?
What mutations are detected in this test?
Is fasting required before the test?
How is the sample collected?
How long does it take to get results?
Can this test be done without a doctor's prescription?
What does a positive result mean?
Is home sample collection available?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
Will insurance cover this test?
What is the significance of genetic counseling?
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