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DNA Labs India

Targeted Mutation Analysis (2 Mutations) Test

DNA Labs India | ISO 9001:2015 Certified

Targeted Mutation Analysis (2 Mutations) Test

Also known as: Targeted Genetic Testing, Mutation Screening

Targeted Mutation Analysis (2 Mutations) Test test available at DNA Labs India for ₹15,000. Uses Sanger Sequencing on Peripheral blood/ Plasma/ Serum/ Amniotic fluid / Cord Blood/Chorionic villi samples. Results in 10-15 days. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of targeted mutation analysis is to detect specific genetic mutations that are associated with hereditary diseases. This test aids in confirming diagnoses, guiding treatment strategies, and providing information for genetic counseling.

Test Code
3220
Price
₹15,000
Sample Type
Peripheral blood/ Plasma/ Serum/ Amniotic fluid / Cord Blood/Chorionic villi
Result Time
10-15 days
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

Ensure a doctor's prescription is available, except for surgery, pregnancy, or travel abroad cases.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using a sterile needle.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 10-15 days

Patient Instructions

1
Before the Test:Ensure a doctor's prescription is available, except for surgery, pregnancy, or travel abroad cases.
2
During the Test:A blood sample will be drawn from a vein in the arm using a sterile needle.
3
After the Test:Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

About This Test

Who Should Get This Test

The purpose of targeted mutation analysis is to detect specific genetic mutations that are associated with hereditary diseases. This test aids in confirming diagnoses, guiding treatment strategies, and providing information for genetic counseling.

How to Prepare

  • Bring doctor's prescription if applicable.
  • Inform the technician about any medications or health conditions.
  • No fasting required unless specified by doctor.

Doctor's Notes

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

"This test is crucial for identifying genetic mutations that may cause hereditary conditions, aiding in early diagnosis and management for patients and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood/ Plasma/ Serum/ Amniotic fluid / Cord Blood/Chorionic villi
Sample Volume2 ml
ContainerEDTA Vacutainer (2ml)/ Sterile Container
Collection MethodVenipuncture

Sample Stability

Sample should be processed within 24 hours of collection for optimal results.
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect container or labeling

Understanding Your Results

The results of targeted mutation analysis indicate whether specific genetic mutations are present.
📊

Mutation detected

Pathogenic variant identified; associated with genetic disease risk. Consult a specialist for further evaluation.

📊

No mutation detected

No pathogenic variants found for the tested mutations. Clinical correlation may be needed.

⚠️ When to Consult a Doctor:

If mutations are detected, consult a geneticist or relevant specialist for further evaluation and management.

Limitations

  • Test only detects specified mutations; other genetic variants may not be identified.
  • Results may require confirmation with additional testing.

Risks & Considerations

  • Bruising at puncture site
  • Infection (rare)
  • Dizziness

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Incorrect sample type

Frequently Asked Questions

What is targeted mutation analysis?
Targeted mutation analysis is a genetic test that identifies specific mutations in DNA known to cause genetic diseases.
How does targeted mutation analysis work?
The test analyzes specific DNA regions using methods like Sanger sequencing to detect mutations associated with genetic disorders.
What samples are required for the test?
Samples can include peripheral blood, plasma, serum, amniotic fluid, cord blood, or chorionic villi.
How long does it take to receive the results?
Results are typically available within 10-15 days after sample collection.
What is the cost of targeted mutation analysis for 2 mutations?
The cost is INR 15000 at DNA Labs India, which includes analysis and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Do I need a doctor's prescription for this test?
Yes, a doctor's prescription is required, except for surgery, pregnancy, or travel abroad cases.
What genetic diseases can be detected with this test?
The test can detect mutations linked to various genetic diseases, depending on the specific mutations analyzed.
How accurate is targeted mutation analysis?
The test is highly accurate and reliable for detecting specified mutations, but it may not identify all genetic variants.
Are there any risks associated with the test?
Risks are minimal and may include bruising, infection, or dizziness from blood draw.
How should I prepare for the test?
No special preparation is needed, but bring a doctor's prescription and inform about any health conditions.
What do the test results indicate?
Results show whether specific mutations are present, helping diagnose genetic diseases and guide treatment.
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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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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