Cystic Fibrosis Mutation Screening (CFTR - Del 508)[Prenatal] Test
Short Name: CFTR Del508 Prenatal
Also known as: CFTR Mutation Analysis, CF Delta F508 Screening, Prenatal CF Carrier Test
Cystic Fibrosis Mutation Screening (CFTR - Del 508)[Prenatal] Test test available at DNA Labs India for ₹10,500. Uses Sanger Sequencing on Amniotic fluid / Chorionic villi / Cord blood samples. Results in Results are typically available within 7-8 days after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this prenatal test is to determine whether the fetus has inherited the F508del mutation in the CFTR gene, which is the most common cause of Cystic Fibrosis. It is performed when both parents are known carriers or have a family history of CF. The test helps in confirming or excluding CF in the fetus, allowing parents to make informed decisions about pregnancy management and early treatment planning.
- Test Code
- 6077
- CPT Code
- 81220
- ICD Code
- Z13.71
- Price
- ₹10,500
- Sample Type
- Amniotic fluid / Chorionic villi / Cord blood
- Result Time
- Results are typically available within 7-8 days after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation required. A doctor's prescription is mandatory. For prenatal cases, the procedure is performed by an obstetrician.
Method: Amniocentesis / CVS / Cordocentesis
Laboratory Analysis
The sample is collected via amniocentesis, chorionic villus sampling, or cordocentesis under ultrasound guidance. The procedure is performed in a sterile environment.
Report Delivery
Rest for a few hours after the procedure. Monitor for any signs of infection or bleeding. Follow up with your doctor for results and counseling.
Timeline: Results are typically available within 7-8 days after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this prenatal test is to determine whether the fetus has inherited the F508del mutation in the CFTR gene, which is the most common cause of Cystic Fibrosis. It is performed when both parents are known carriers or have a family history of CF. The test helps in confirming or excluding CF in the fetus, allowing parents to make informed decisions about pregnancy management and early treatment planning.
How to Prepare
- Sample must be collected in a sterile container or EDTA vacutainer as specified.
- Label the sample with patient details and date of collection.
- Transport the sample to the laboratory within 24 hours at ambient temperature.
- Avoid freezing the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Prenatal CFTR testing is crucial for at-risk couples. Early detection allows informed reproductive decisions and timely management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample not labeled correctly
- Sample received after prolonged transit time
Understanding Your Results
Negative
No F508del mutation detected. The fetus is unlikely to have CF due to this mutation. However, other mutations are not ruled out.
Positive (Heterozygous)
One copy of the F508del mutation detected. The fetus is a carrier of CF. If the other parent is also a carrier, there is a 25% chance of CF.
Positive (Homozygous)
Two copies of the F508del mutation detected. The fetus is affected with Cystic Fibrosis. Clinical management and counseling are essential.
Consult your doctor if you have a family history of CF, are a known carrier, or have had a previous child with CF. Also, if you have any concerns about the test results or need guidance on reproductive options.
Limitations
- ⚠This test detects only the F508del mutation; other CFTR mutations are not covered.
- ⚠Negative result does not rule out CF caused by other mutations.
- ⚠Test is not diagnostic for CF; clinical correlation required.
- ⚠Prenatal sampling carries a small risk of miscarriage (0.5-1%).
Risks & Considerations
- ●Miscarriage (0.5-1% for amniocentesis/CVS)
- ●Infection at the puncture site
- ●Bleeding or amniotic fluid leakage
- ●Rh sensitization in Rh-negative mothers (preventable with RhoGAM)
Interfering Factors
- ●Maternal cell contamination in fetal sample
- ●Insufficient sample quantity
- ●DNA degradation due to improper handling
- ●Rare mutations not covered by this specific test
Compare With Similar Tests
| Test | Cystic Fibrosis Mutation Screening (CFTR - Del 508)[Prenatal] | CFTR Full Gene Sequencing | CF Carrier Screening (Panel) |
|---|---|---|---|
| Comparison | Cystic Fibrosis Mutation Screening (CFTR - Del 508)[Prenatal] |
Frequently Asked Questions
What is the cost of the CFTR Del508 prenatal test?
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 prenatal test?
Does this test detect all CF mutations?
Is a doctor's prescription required?
What are the risks of prenatal sampling?
Can this test be done for both parents?
Is home sample collection available?
What does a positive result mean?
Is genetic counseling provided?
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₹7,371Reference Laboratory Services
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