Skip to main content
DNA Labs India

MPZ Gene CMT2I NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MPZ Gene CMT2I NGS Genetic Test

Short Name: CMT2I NGS Genetic Test

Also known as: CMT2I Genetic Test, MPZ Gene Test, Charcot-Marie-Tooth Type 2I DNA Test

MPZ Gene CMT2I 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.

NeurologistAdolescents and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the MPZ Gene CMT2I NGS Genetic Test is to identify mutations in the MPZ gene responsible for Charcot-Marie-Tooth disease type 2I, enabling accurate diagnosis, personalized management, and informed genetic counseling for affected individuals and their families.

Test Code
1549
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

A genetic counseling session is recommended to discuss implications and draw a family pedigree chart. No fasting is required.

Method: Venipuncture for blood samples or FTA card for blood drops

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or application of blood drop on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Samples are labeled and transported under appropriate conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling, clinical history review, and informed consent are required before testing.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis in the laboratory.
3
After the Test:Results are analyzed and a clinical report is generated, typically available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the MPZ Gene CMT2I NGS Genetic Test is to identify mutations in the MPZ gene responsible for Charcot-Marie-Tooth disease type 2I, enabling accurate diagnosis, personalized management, and informed genetic counseling for affected individuals and their families.

How to Prepare

  • No fasting required prior to sample collection
  • Ensure proper identification and labeling of samples
  • Avoid hemolysis by gentle handling of blood tubes

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of CMT2I through MPZ gene testing is crucial for management, prognosis, and family genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood samples or FTA card for blood drops

Sample Stability

Whole blood: 2-8°C for up to 24 hours
Extracted DNA: -20°C for long-term storage
FTA card: Stable at room temperature for years
Sample Rejection Criteria:
  • Clotted blood samples
  • Insufficient sample volume
  • Contaminated or improperly stored samples

Understanding Your Results

Results from the MPZ Gene CMT2I NGS Genetic Test indicate the presence or absence of mutations in the MPZ gene. A positive result confirms genetic diagnosis of CMT2I, while a negative result suggests no detected mutations, but clinical correlation is essential.
📊

Pathogenic or likely pathogenic variant detected in MPZ gene, consistent with CMT2I diagnosis.

Result type: Positive

📊

No pathogenic variants detected in MPZ gene; CMT2I may be caused by other genes or non-genetic factors.

Result type: Negative

📊

A genetic variant with unknown clinical significance; further testing and clinical evaluation recommended.

Result type: Variant of Uncertain Significance

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if you experience symptoms of CMT2I, have a family history of the disease, or after receiving test results for proper management and counseling.

Limitations

  • ⚠Test may not detect all possible genetic variants in the MPZ gene
  • ⚠Negative result does not completely rule out CMT2I if caused by other genes
  • ⚠Results should be interpreted in conjunction with clinical findings and family history

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of misinterpretation without proper genetic counseling

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed or clotted blood samples
  • ●Incorrect sample handling or storage

Compare With Similar Tests

TestMPZ Gene CMT2I NGS Genetic TestPMP22 Gene CMT1A NGS Genetic TestGJB1 Gene CMTX1 NGS Genetic TestMPZ Gene CMT1B NGS Genetic Test
ComparisonMPZ Gene CMT2I NGS Genetic Test

Frequently Asked Questions

What is the MPZ Gene CMT2I NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the MPZ gene, which cause Charcot-Marie-Tooth disease type 2I (CMT2I), a genetic neuropathy.
What is Charcot-Marie-Tooth disease type 2I (CMT2I)?
CMT2I is a rare inherited disorder affecting peripheral nerves, leading to muscle weakness, atrophy, and sensory loss, typically starting in adolescence or early adulthood.
What are the common symptoms of CMT2I?
Symptoms include muscle weakness and atrophy in lower legs and feet, numbness or tingling in hands and feet, difficulty walking, hammertoes, high arches, and foot drop.
How is CMT2I diagnosed?
Diagnosis involves clinical examination, nerve conduction studies, and genetic testing such as the MPZ Gene CMT2I NGS Genetic Test to confirm mutations.
What is the cost of the MPZ Gene CMT2I NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Why should I choose DNA Labs India for this genetic test?
DNA Labs India offers affordable pricing, NABL accreditation, ISO certification, and transparency by providing raw data (FASTQ and VCF files) along with the clinical report.
What sample type is required for the test?
The test requires blood samples, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What should I do before getting tested?
Before testing, a genetic counseling session is recommended to discuss implications, and provide clinical and family history information.
How is the genetic test performed?
The test uses NGS technology to analyze DNA extracted from the blood sample for mutations in the MPZ gene.
What do the test results mean?
Positive results indicate a genetic diagnosis of CMT2I, while negative results suggest no detected MPZ gene mutations; clinical correlation is essential for interpretation.
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.