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MPZ Gene DI-CMTD NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MPZ Gene DI-CMTD NGS Genetic Test

Short Name: MPZ DI-CMTD NGS Test

Also known as: MPZ Gene Sequencing, MPZ Gene NGS Test, Charcot-Marie-Tooth DI-CMTD Genetic Test, Hereditary Motor and Sensory Neuropathy MPZ Gene Test

MPZ Gene DI-CMTD 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 Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time depends on sequencing completion, bioinformatics analysis, and variant interpretation.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 primary purpose of the MPZ Gene DI-CMTD NGS Genetic Test is to detect disease-causing variants in the MPZ gene in individuals with suspected Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy. It is recommended when clinical signs such as foot drop, high-arched feet, hammertoes, distal weakness, sensory loss, or a family history of CMT are present. The result helps distinguish MPZ-related CMT from other inherited neuropathies and can guide clinical surveillance, management, and genetic counselling. It may also be used for testing at-risk adult relatives after identification of a familial pathogenic variant.

Test Code
4011
CPT Code
Not specified
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time depends on sequencing completion, bioinformatics analysis, and variant interpretation.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please provide a valid doctor's referral, clinical summary, family history or pedigree chart, and any previous genetic or neurological test reports. A pre-test genetic counselling session is strongly recommended.

Method: Peripheral blood specimen collection / dried blood spot on FTA card / submission of extracted DNA

Step 2

Laboratory Analysis

A small blood sample is collected from a vein; alternatively, one drop of blood can be placed on an FTA card. The procedure is quick and carries minimal discomfort.

Step 3

Report Delivery

You can resume routine activities immediately. The laboratory will process the sample and provide the clinical report in 3-4 weeks.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time depends on sequencing completion, bioinformatics analysis, and variant interpretation.

Patient Instructions

1
Before the Test:No fasting is required. Please bring a doctor's referral, clinical history, family history/pedigree, and previous test reports. A pre-test genetic counselling session is recommended.
2
During the Test:A small blood sample is collected from a vein; alternatively, one drop of blood can be placed on an FTA card. The procedure is simple and causes minimal discomfort.
3
After the Test:You can resume normal activities immediately. The sample is transported to the laboratory and processed using NGS technology.

About This Test

Who Should Get This Test

The primary purpose of the MPZ Gene DI-CMTD NGS Genetic Test is to detect disease-causing variants in the MPZ gene in individuals with suspected Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy. It is recommended when clinical signs such as foot drop, high-arched feet, hammertoes, distal weakness, sensory loss, or a family history of CMT are present. The result helps distinguish MPZ-related CMT from other inherited neuropathies and can guide clinical surveillance, management, and genetic counselling. It may also be used for testing at-risk adult relatives after identification of a familial pathogenic variant.

How to Prepare

  • Pre-test genetic counselling is recommended to review family history and obtain informed consent.
  • Blood should be collected in an EDTA tube for DNA analysis.
  • FTA card samples should be air-dried and labelled correctly.
  • No fasting is required.

Doctor's Notes

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

"For an inherited neuropathy like CMT, the clinical picture may vary even within the same family. Genetic results are best interpreted along with inheritance pattern, nerve conduction studies, and a three-generation pedigree. We strongly recommend that patients receive pre-test and post-test genetic counselling so that they understand what a positive, negative or uncertain result means for themselves and their relatives."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory instructions
ContainerEDTA tube (blood), FTA card, or sterile tube (extracted DNA)
Collection MethodPeripheral blood specimen collection / dried blood spot on FTA card / submission of extracted DNA

Sample Stability

Whole blood in EDTA: stable for 72 hours at 2-8°C
FTA blood spot: stable at room temperature for several weeks
Extracted DNA: stable at -20°C for several months
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample received without proper patient identification
  • FTA card not dried before packing
  • Insufficient quantity of DNA or blood
  • Missing clinical history and consent form

Understanding Your Results

The test result is molecular and should not be considered diagnostic in isolation. A qualified clinical genetics team will interpret the result in the context of the patient's symptoms, nerve conduction findings, family history, and physical examination.
📊

Negative

No disease-causing variant detected in the MPZ gene. This reduces the likelihood of MPZ-related CMT but does not exclude CMT due to mutations in other genes.

Action: Clinical correlation remains necessary; if suspicion is high, consider a multi-gene CMT panel.

📊

Positive

A pathogenic or likely pathogenic variant was detected in the MPZ gene. This supports a molecular diagnosis of MPZ-related CMT.

Action: Genetic counselling, family variant testing, and appropriate medical management should be provided.

📊

Uncertain (VUS)

A variant of uncertain significance was detected. Its role in disease is not yet established.

Action: Additional segregation analysis, in-silico evaluation, and/or functional studies may help clarify.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member has symptoms such as progressive distal weakness, foot deformities, sensory loss, or a known family mutation. Genetic counselling is recommended before and after testing.

Limitations

  • ⚠Only the MPZ gene is evaluated; other CMT-related genes are not covered.
  • ⚠Standard NGS may not detect large genomic rearrangements, deep intronic variants, or complex structural variants.
  • ⚠A Variant of Uncertain Significance (VUS) may require additional family studies for interpretation.
  • ⚠A negative result does not exclude CMT caused by mutations in other genes.
  • ⚠This test is not intended for prenatal diagnosis without prior genetic counselling and laboratory authorization.

Risks & Considerations

  • ●Minimal pain or bruising at the venepuncture site
  • ●Fainting sensation during blood draw (rare)
  • ●No significant radiation or chemical exposure is involved

Interfering Factors

  • ●Poor DNA quantity or quality
  • ●Sample mix-up or mislabelling
  • ●Contamination during sample collection
  • ●Allogeneic bone marrow transplant may affect blood or buccal DNA results; laboratory must be informed

Compare With Similar Tests

TestMPZ Gene DI-CMTD NGS Genetic Test
ComparisonMPZ Gene DI-CMTD NGS Genetic Test

Frequently Asked Questions

What is the MPZ Gene DI-CMTD NGS Genetic Test?
It is a next-generation sequencing test that analyzes the MPZ gene to detect mutations associated with Charcot-Marie-Tooth disease and hereditary motor and sensory neuropathy. It is available at DNA Labs India for INR 20000.
Which disease does this test diagnose?
It helps diagnose MPZ-related Charcot-Marie-Tooth disease (CMT), including demyelinating forms and dominant intermediate CMT. CMT is also called hereditary motor and sensory neuropathy (HMSN).
What is the cost of the MPZ Gene DI-CMTD NGS Genetic Test?
The test costs INR 20,000 (Rs 20000.0) at DNA Labs India. Free home sample collection is available for online bookings in many Indian cities.
What sample is required for the test?
The test can be performed using whole blood, one drop of blood on an FTA card, or extracted DNA. Blood is collected in an EDTA tube.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will the reports take?
Reports are usually available within 3 to 4 weeks after the sample is received by the laboratory.
Does this test cover all CMT-related genes?
No, this is a single-gene test that examines only the MPZ gene. If CMT is strongly suspected and MPZ testing is negative, a multi-gene CMT panel may be considered.
What are the common symptoms of MPZ-related CMT?
Symptoms may include difficulty walking, foot drop, high-arched feet, hammertoes, numbness or tingling in the hands and feet, weakness in the distal muscles, and loss of muscle mass.
Who should take this test?
It is recommended for individuals with clinical features of CMT, family history of CMT or a known MPZ mutation, and for at-risk relatives after genetic counselling. It should be ordered by a neurologist or clinical geneticist.
Will I receive raw data along with the report?
DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report, ensuring transparency and supporting further analysis if needed.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the MPZ gene. It reduces the likelihood of MPZ-related CMT but does not exclude CMT caused by mutations in other genes.
Is genetic counselling required before this test?
Pre-test genetic counselling is strongly recommended to review personal and family history, draw a pedigree chart, and obtain informed consent. Post-test counselling is also advised to understand the result and its implications.
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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