Skip to main content
DNA Labs India

MFN2 Gene CMT2A2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MFN2 Gene CMT2A2 NGS Genetic Test

Short Name: CMT2A2 NGS Genetic Test

Also known as: MFN2 Gene Test, CMT2A2 Genetic Test, Charcot-Marie-Tooth Disease Type 2A2 Test

MFN2 Gene CMT2A2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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)Adolescents and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Charcot-Marie-Tooth disease type 2A2 (CMT2A2) by detecting mutations in the MFN2 gene using NGS technology, aiding in accurate diagnosis, treatment planning, and genetic counseling.

Test Code
1548
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree if available. Genetic counseling session recommended.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or FTA card collection for DNA preservation.

Step 3

Report Delivery

Sample is transported to the laboratory under controlled conditions for DNA extraction and analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Blood sample collected for DNA extraction; NGS technology used to sequence the MFN2 gene.
3
After the Test:Report generation and consultation with a healthcare provider to discuss results and management options.

About This Test

Who Should Get This Test

To diagnose Charcot-Marie-Tooth disease type 2A2 (CMT2A2) by detecting mutations in the MFN2 gene using NGS technology, aiding in accurate diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Follow aseptic techniques to prevent contamination
  • Store samples at ambient room temperature or as specified

Doctor's Notes

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

"Genetic testing for MFN2 mutations is essential for accurate diagnosis and management of CMT2A2, guiding treatment decisions and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerVacutainer tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable for 24 hours at room temperature
FTA cards stable for extended periods when stored properly
Sample Rejection Criteria:
  • Insufficient sample volume or quality
  • Hemolyzed, lipemic, or contaminated samples
  • Improper storage or handling conditions

Understanding Your Results

Results should be interpreted by a qualified geneticist or neurologist in conjunction with clinical findings and family history.
Positive: Pathogenic variant detected in MFN2 gene, indicating CMT2A2
Negative: No pathogenic variants found, reducing likelihood of CMT2A2 due to MFN2 mutations
Variant of Uncertain Significance (VUS): Genetic change identified but clinical significance unclear, requiring follow-up
⚠️ When to Consult a Doctor:

If symptoms such as muscle weakness, numbness, or foot deformities are present, or if there is a family history of Charcot-Marie-Tooth disease, consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all types of genetic variations
  • ⚠Variants of uncertain significance may require further testing
  • ⚠Does not rule out other genetic causes of Charcot-Marie-Tooth disease

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Potential for uncertain results causing emotional distress
  • ●Implications for family members requiring further testing

Interfering Factors

  • ●DNA quality and quantity from sample
  • ●Sample contamination or degradation
  • ●Technical errors in sequencing or analysis

Compare With Similar Tests

TestMFN2 Gene CMT2A2 NGS Genetic Test
ComparisonMFN2 Gene CMT2A2 NGS Genetic Test

Frequently Asked Questions

What is the MFN2 Gene CMT2A2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the MFN2 gene for mutations causing Charcot-Marie-Tooth disease type 2A2, aiding in diagnosis and management.
What are the common symptoms of CMT2A2?
Symptoms include muscle weakness and numbness in the feet and legs, difficulty walking, foot deformities like high arches, and loss of muscle mass, often starting in adolescence or early adulthood.
How is CMT2A2 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the MFN2 Gene CMT2A2 NGS Test, to detect mutations in the MFN2 gene that disrupt mitochondrial function.
What is the cost of the test in India?
The cost is approximately INR 20000, which may vary by laboratory and includes home sample collection across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities nationwide.
How long does it take to get results?
Results are typically available in 3 to 4 weeks from sample collection.
What sample type is required for the test?
The test accepts blood samples, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling necessary before testing?
Yes, a genetic counseling session is recommended to discuss family history, test implications, and draw a pedigree chart.
What do the test results indicate?
Results can be positive (pathogenic variant detected), negative (no variants found), or report a variant of uncertain significance, requiring specialist interpretation.
Are there any risks associated with the test?
Risks are minimal, primarily from blood draw, but uncertain results may cause anxiety; genetic counseling helps address concerns.
Is the test covered by insurance?
Coverage varies; it is generally not covered under government schemes like PMJAY without prior authorization, but check with private insurers.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations, with over 99% coverage, but interpretation by a geneticist is essential for clinical relevance.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.