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DNA Labs India

Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test

DNA Labs India | ISO 9001:2015 Certified

Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test

Also known as: CFTR DelF508 Mutation Test, Cystic Fibrosis Genetic Screening

Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test test available at DNA Labs India for ₹6,000. Uses Sanger Sequencing on Peripheral blood samples. Results in 7-8 days. Free home collection in 300+ cities across India.

Genetic Testing🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to screen for the CFTR - Del 508 mutation in the CFTR gene, which is the most common cause of cystic fibrosis. It aids in diagnosing the condition, identifying carriers, and guiding treatment and management plans.

Test Code
2982
Price
₹6,000
Sample Type
Peripheral blood
Result Time
7-8 days
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

Cystic Fibrosis mutation screening (CFTR - Del 508) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Step 2

Laboratory Analysis

Your sample is analyzed using Sanger Sequencing in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 7-8 days

Patient Instructions

1
Before the Test:No special preparation is needed. A doctor's prescription may be required, except for specific cases like surgery, pregnancy, or travel abroad.
2
During the Test:A blood sample is collected from a vein in the arm, which is a quick and minimally invasive procedure.
3
After the Test:Apply pressure to the collection site to prevent bruising. Resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to screen for the CFTR - Del 508 mutation in the CFTR gene, which is the most common cause of cystic fibrosis. It aids in diagnosing the condition, identifying carriers, and guiding treatment and management plans.

How to Prepare

  • A small blood sample is drawn from a vein in the arm using standard phlebotomy techniques.
  • No fasting is required prior to sample collection.
  • Ensure the sample is collected in an EDTA vacutainer to prevent clotting.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
ContainerEDTA Vacutainer (2ml)

Understanding Your Results

Results indicate whether the CFTR Del 508 mutation is detected. A positive result suggests cystic fibrosis or carrier status, while a negative result means the mutation was not found, but does not rule out other CFTR mutations.
📊

Detected

The CFTR Del 508 mutation is present. This may confirm cystic fibrosis if symptomatic or indicate carrier status. Consult a genetic counselor or specialist for further evaluation and management.

📊

Not Detected

The CFTR Del 508 mutation is not found. However, this does not exclude other CFTR mutations or cystic fibrosis. Clinical correlation and additional testing may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of cystic fibrosis, experience symptoms like persistent cough, frequent infections, or digestive issues, or if test results are positive or inconclusive for proper diagnosis and management.

Frequently Asked Questions

What is Cystic Fibrosis Mutation Screening (CFTR - Del 508)?
It is a genetic test that screens for the Del 508 mutation in the CFTR gene, the most common cause of cystic fibrosis, using Sanger Sequencing on a blood sample.
Why is the CFTR Del 508 mutation significant?
This mutation accounts for about 70% of cystic fibrosis cases worldwide, making it a key target for diagnosis and carrier screening.
Who should consider getting this test?
Individuals with a family history of cystic fibrosis, those with symptoms like chronic lung issues or digestive problems, or couples planning pregnancy for carrier status assessment.
How is the test performed?
A small blood sample is collected from a vein in the arm and analyzed in the lab using Sanger Sequencing to detect the CFTR Del 508 mutation.
What is the cost of the test?
The test costs INR 6000 at DNA Labs India, with home sample collection available at no extra charge in many cities.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 7-8 days after sample collection.
What do the results mean?
A 'Detected' result indicates the presence of the CFTR Del 508 mutation, suggesting cystic fibrosis or carrier status. 'Not Detected' means the mutation was not found, but other mutations may exist.
Is the test accurate?
Yes, the test uses Sanger Sequencing, a reliable method for detecting specific mutations, but it only screens for the Del 508 mutation and not all CFTR variants.
Are there any risks associated with the test?
The test involves a standard blood draw, which may cause minor bruising or discomfort, but serious risks are minimal.
Can this test be used for prenatal diagnosis?
It can be part of prenatal screening for carrier status, but confirmatory tests may be needed for fetal diagnosis. Consult a genetic counselor.
How can I book the test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for home sample collection across India.
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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