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DNA Labs India

CFTR Gene Cystic fibrosis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CFTR Gene Cystic fibrosis NGS Genetic Test

Short Name: CFTR NGS Test

Also known as: CFTR Mutation Analysis, Cystic Fibrosis Genetic Test, CF Gene Test

CFTR Gene Cystic fibrosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the CFTR gene for diagnosis of cystic fibrosis, assess carrier status, guide treatment decisions, and provide information for family planning.

Test Code
4660
ICD Code
E84.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling recommended. Ensure informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample labeled and transported to laboratory under stable conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to draw a pedigree chart and discuss implications.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for results in 3-4 weeks; follow-up with genetic counselor or physician.

About This Test

Who Should Get This Test

To identify mutations in the CFTR gene for diagnosis of cystic fibrosis, assess carrier status, guide treatment decisions, and provide information for family planning.

How to Prepare

  • Use sterile equipment for blood draw
  • For FTA card, apply one drop of blood and air dry
  • Store samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for CFTR mutations is crucial for early diagnosis, management, and family planning in cystic fibrosis cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for up to 1 week at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of CFTR gene mutations associated with cystic fibrosis. Positive results confirm diagnosis or carrier status, while negative results may require clinical correlation.
📊

Positive for pathogenic mutations

Confirms cystic fibrosis or carrier status; consult genetic counselor for management.

📊

Negative for mutations

No CFTR mutations detected, but clinical symptoms may warrant further testing.

📊

Variant of uncertain significance

Genetic counseling recommended for family implications.

⚠️ When to Consult a Doctor:

If symptoms persist, family history is positive, or results indicate mutations for cystic fibrosis.

Limitations

  • ⚠May not detect all rare CFTR mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestCFTR Gene Cystic fibrosis NGS Genetic TestSweat Chloride TestCF Carrier ScreeningPancreatic Function TestLung Function Test
ComparisonCFTR Gene Cystic fibrosis NGS Genetic Test

Frequently Asked Questions

What is the CFTR Gene Cystic Fibrosis NGS Genetic Test?
It is a next-generation sequencing test that analyzes the CFTR gene to identify mutations causing cystic fibrosis.
Why is this test recommended?
It is recommended for diagnosing CF, assessing carrier status, and guiding treatment in individuals with symptoms or family history.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the CFTR gene.
What is the cost of the test in India?
The cost is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Results indicate if CFTR mutations are present, confirming CF diagnosis or carrier status; genetic counseling is advised for interpretation.
Is genetic counseling required?
Yes, a genetic counseling session is recommended before and after testing to discuss implications and pedigree chart.
Can this test detect all CF mutations?
NGS can detect most known CFTR mutations, but rare variants may not be identified; limitations apply.
Is the test covered by insurance?
Coverage varies; check with your insurance provider or government schemes like PMJAY, CGHS, etc.
What are the risks of the test?
Risks are minimal, including blood draw discomfort and potential psychological impact of results.
How accurate is the NGS genetic test for CF?
NGS is highly accurate for detecting CFTR mutations, but accuracy depends on sample quality and laboratory standards.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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