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MPZ Gene CMT4E NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MPZ Gene CMT4E NGS Genetic Test

Short Name: MPZ CMT4E NGS

Also known as: MPZ Gene NGS Test, CMT4E Genetic Test, Charcot-Marie-Tooth Type 4E Sequencing

MPZ Gene CMT4E 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 The final report will be delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The main purpose of this test is to detect mutations in the MPZ gene that cause CMT4E. It aids in confirming a clinical diagnosis, enabling early intervention, providing information for genetic counseling, and assisting affected families with recurrence risk assessment.

Test Code
3965
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The final report will be delivered within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical History of Patient who is going for MPZ Gene CMT4E NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MPZ Gene CMT4E Disease Neurological Disorders.

Step 2

Laboratory Analysis

A simple blood draw or FTA card spot collection is performed. No fasting is required.

Step 3

Report Delivery

No special precautions after sample collection.

Timeline: The final report will be delivered within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:Before the test, a genetic counseling session is recommended to document family history and discuss the implications of results. Complete clinical history and neurological examination findings should be provided.
2
During the Test:During the test, samples (blood or FTA card) are collected. The NGS analysis will sequence the MPZ gene to identify any disease-causing variants.
3
After the Test:After the test, results will be discussed with your physician or genetic counselor. Positive results may lead to further family screening and management planning.

About This Test

Who Should Get This Test

The main purpose of this test is to detect mutations in the MPZ gene that cause CMT4E. It aids in confirming a clinical diagnosis, enabling early intervention, providing information for genetic counseling, and assisting affected families with recurrence risk assessment.

How to Prepare

  • No fasting required.
  • Provide complete clinical history and any relevant neurological findings.
  • Genetic counseling session is recommended before and after testing.
  • Ensure sample is sent to the lab within specified time.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Prompt genetic diagnosis of CMT4E is vital for affected families. This NGS-based MPZ gene test provides actionable information for clinical management and reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable at ambient temperature for up to 48 hours
Extracted DNA stable at -20°C or below for long-term storage
Sample Rejection Criteria:
  • Improperly labeled samples
  • Hemolyzed or clotted blood samples
  • Insufficient sample quantity

Understanding Your Results

The MPZ Gene CMT4E NGS Genetic Test identifies pathogenic or likely pathogenic variants in the MPZ gene. A positive result supports a diagnosis of CMT4E. A negative result does not exclude CMT4E, as mutations outside the analysed region or in other genes may be responsible.
Positive: A pathogenic/likely pathogenic variant in MPZ confirms the molecular diagnosis of CMT4E.
Negative: No pathogenic variant detected in the MPZ gene; clinical diagnosis should be reassessed if suspicion remains high.
Variant of Uncertain Significance: Additional family studies or functional analysis may be needed.
Carrier: For autosomal recessive forms, a single pathogenic variant may indicate carrier status.
⚠️ When to Consult a Doctor:

If you or a loved one have been experiencing symptoms such as weakness, numbness, foot deformities, or difficulty walking, or if you have a family history of CMT, consult a neurologist or genetic counselor to determine if this test is appropriate.

Limitations

  • ⚠This test detects mutations in the MPZ gene only.
  • ⚠Variants in other genes associated with Charcot-Marie-Tooth disease are not evaluated.
  • ⚠The test may not detect all types of mutations (e.g., rare intronic variants or large structural rearrangements).
  • ⚠Results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●Bruising or discomfort at venipuncture site (if blood sample collected)
  • ●No genetic test is completely risk-free; potential psychological impact of a positive/negative result

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination of sample
  • ●Inappropriate sample collection or storage

Compare With Similar Tests

TestMPZ Gene CMT4E NGS Genetic Test
ComparisonMPZ Gene CMT4E NGS Genetic Test

Frequently Asked Questions

What is the MPZ Gene CMT4E NGS Genetic Test?
This test uses next-generation sequencing (NGS) technology to analyze the MPZ gene for mutations that cause Charcot-Marie-Tooth disease type 4E (CMT4E).
What is CMT4E?
CMT4E is a rare inherited peripheral neuropathy caused by mutations in the MPZ gene, affecting the myelin sheath and leading to muscle weakness and sensory loss.
What are the symptoms of CMT4E?
Common symptoms include weakness in the legs and arms, numbness or tingling in hands and feet, difficulty walking, foot deformities, and loss of muscle mass.
How is the MPZ Gene CMT4E NGS Genetic Test performed?
The test requires a blood sample, extracted DNA, or a single drop of blood on an FTA card. NGS is used to sequence the MPZ gene and identify variants.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What is the cost of the test?
The MPZ Gene CMT4E NGS Genetic Test costs INR 20,000 at DNA Labs India.
How long does it take to get the results?
The turnaround time is typically 3 to 4 weeks from the date the sample is received at the laboratory.
Can I get home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings across multiple cities in India.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant in the MPZ gene was detected, confirming a molecular diagnosis of CMT4E.
What does a negative test result mean?
A negative result means no pathogenic variant was found in the MPZ gene. It does not completely rule out CMT4E, as mutations outside the analysed region or in other genes may be responsible.
Is genetic counseling available?
Yes, pre and post-test genetic counseling is recommended and available to help interpret your results and understand inheritance patterns.
Will I receive raw data files with my report?
DNA Labs India shares raw data files such as FASTQ and VCF along with the clinical report for transparency and further analysis if needed.
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

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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.

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