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MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test

About MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test

Field	Value
Also Known As	MPZ Gene Sequencing, Myelin Protein Zero Gene Test, P0 Gene Analysis, CMT1B Genetic Test
Sample Type	Chorionic villus (CVS), amniotic fluid, peripheral blood (EDTA), or cord blood (EDTA)
Fasting Required	No fasting required
Report Time	20 days
Recommended For	All ages; individuals with suspected hereditary peripheral neuropathy or a family history of Charcot-Marie-Tooth disease
Price	Starting at ₹24,000

What is an MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test?

The MPZ full-length gene sequence analysis (Charcot-Marie-Tooth disease) test examines the MPZ gene, which carries the instructions for making myelin protein zero. This protein forms part of the protective covering around peripheral nerve fibres. A doctor typically orders this test when a patient shows signs of inherited nerve damage or has a family history of Charcot-Marie-Tooth (CMT) disease. The test is also known as MPZ Gene Sequencing or the P0 Gene Analysis.

What Does an MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test Measure?

This test analyses the complete sequence of the MPZ gene to identify changes that may affect how peripheral nerves function. The table below summarises what the test looks for.

Component	What it Detects
MPZ gene sequence	Changes (mutations) in the gene that encodes myelin protein zero
Sequence variants	Single-letter changes in the DNA code that may cause or predispose to neuropathy
Copy number variants (CNVs)	Deletions or duplications within the MPZ gene

Results are reported as qualitative findings, meaning the report states whether a variant is present or absent rather than giving a numerical value.

Why is an MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test Done?

This test is ordered when a doctor suspects a genetic cause for peripheral nerve problems. The sections below outline the common reasons.

Common Symptoms That May Require This Test

The following symptoms may prompt a doctor to recommend this MPZ full-length gene sequence analysis test:

Progressive weakness or wasting of muscles in the feet and lower legs
Foot drop — difficulty lifting the front part of the foot when walking
High arches (pes cavus) or curled toes (hammertoes)
Reduced sensation or numbness in the hands and feet
Clumsy or unsteady gait, especially worsening over time
Frequent tripping or difficulty with balance
Sensory loss spreading from the extremities upward

Conditions This Test Can Help Detect

This test can help identify several inherited neuropathy conditions, including:

Charcot-Marie-Tooth disease type 1B (CMT1B) — the demyelinating form
Charcot-Marie-Tooth disease type 2I and 2J (CMT2I and CMT2J) — axonal forms
Dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD)
Dejerine-Sottas syndrome — a severe, early-onset demyelinating neuropathy
Congenital hypomyelinating neuropathy — a condition present from birth affecting the nerve coating

How to Prepare and What to Expect

Preparation for this test is straightforward, but certain steps help ensure accurate results.

Do You Need to Fast?

No fasting is required before this test. You may eat and drink normally on the day of sample collection.

Practical Tips Before Your Test

The following steps will help your appointment go smoothly:

Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
Carry any previous nerve conduction study or electromyography (EMG) reports, if available
Inform the doctor or lab staff if you have had a recent blood transfusion, bone marrow transplant, or are being treated for a blood cancer, as this may affect DNA analysis
Drink adequate water before your appointment to make blood collection easier
Inform your doctor about all current medications

Step-by-Step Procedure

Multiple sample types may be collected depending on the clinical situation. The procedure for each is described below.

Peripheral Blood or Cord Blood (EDTA tube):

A trained phlebotomist cleans the inner elbow area with an antiseptic solution.
A small blood sample (3 ml) is drawn into a lavender-top EDTA tube.
The sample is labelled with your details and the date of collection.
The sample is stored at 2 to 8 degrees Celsius and dispatched to the laboratory.
DNA is extracted from the blood cells and analysed using Sanger sequencing.
Results are reviewed by a qualified scientist, and a report is prepared within 20 days.

Chorionic Villus (CVS):

A specialist collects a small tissue sample (30 mg) of chorionic villus through a clinical procedure.
The sample is placed in a sterile container (white top) and labelled carefully.
It is stored at 2 to 8 degrees Celsius and transported to the laboratory promptly.
DNA is extracted from the tissue and sequenced using Sanger sequencing.
The results are reported within 20 days.

Amniotic Fluid:

A specialist collects 20 ml of amniotic fluid using a clinical procedure in a controlled setting.
The fluid is placed in a Falcon tube (white top) and labelled with patient details.
It is stored and transported at 2 to 8 degrees Celsius.
DNA is extracted and analysed, with results available within 20 days.

Factors That Can Affect Accuracy

The following factors may influence the reliability of results:

Poor sample quality or insufficient DNA yield
Recent blood transfusion, bone marrow transplant, or blood cancer treatment
Improper labelling or storage of the sample
Variants of uncertain significance that cannot yet be classified definitively
New evidence that may lead to the reclassification of a previously reported variant

Understanding Your MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test Results

Results from this test are interpreted by a specialist and should always be reviewed alongside clinical findings, nerve conduction studies, and family history. The table below provides a general guide to result classifications.

Result	Classification	What it May Mean
No pathogenic variant detected	Normal	CMT1B is not indicated by this gene; other gene mutations may still be present
Pathogenic variant detected	Abnormal	Confirms MPZ-related neuropathy; further clinical assessment needed
Variant of uncertain significance (VUS)	Indeterminate	Further family studies or reclassification may be needed over time

Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.

How to Maintain Healthy Levels

While no lifestyle change can alter your genetic results, the following general wellness tips are relevant for those managing peripheral neuropathy:

Inspect feet daily for calluses, sores, or minor wounds, as reduced sensation can make injuries harder to notice
Avoid prolonged periods of sitting or immobility, as staying gently active can support nerve function
Physical and occupational therapy, as recommended by your doctor, can help maintain strength and mobility

Lupin Diagnostics MPZ Full-Length Gene Sequence Analysis (Charcot-Marie-Tooth Disease) Test Price

The MPZ full-length gene sequence analysis test cost at Lupin Diagnostics starts at ₹24,000. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.

City	Approximate Price (₹)
BHOPAL	24000
CHENNAI	24000
HYDERABAD	24000
KOLKATA	24000
NAVI MUMBAI	24000
PUNE	24000

Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

How to Book

The following steps explain how to book the MPZ full-length gene sequence analysis test online:

Select the test on the Lupin Diagnostics website.
Choose your city and preferred centre location.
Visit the centre at your scheduled time for sample collection.
Receive your report via email or WhatsApp within the stipulated turnaround time.

Frequently Asked Questions

The MPZ gene carries the instructions for making myelin protein zero, a protein produced by support cells of the peripheral nervous system. This protein is essential for keeping the myelin sheath — the protective coating around nerve fibres — tightly packed and functional. Changes in this gene can disrupt nerve signal transmission.

This test is recommended for individuals who show symptoms of progressive peripheral neuropathy, particularly if a family member has been diagnosed with Charcot-Marie-Tooth disease. A doctor may also suggest it when nerve conduction studies show abnormal results consistent with a hereditary cause.

Charcot-Marie-Tooth disease is one of the most frequently inherited neurological conditions, affecting approximately one in 2,500 people. Despite being relatively common among hereditary neuropathies, it is often diagnosed late due to its gradual progression and variable presentation.

Mutations in the MPZ gene account for around 5% of all genetically confirmed CMT cases. They are responsible for approximately 10% of all confirmed demyelinating forms of the condition. The MPZ full-length gene sequence analysis helps identify this specific subset of patients.

A variant of uncertain significance (VUS) means the laboratory has found a change in the MPZ gene, but there is currently not enough evidence to confirm whether it causes disease. Over time, as more data becomes available, the variant may be reclassified. Family studies can sometimes help clarify their significance.

The report is typically ready within 20 days from the date of sample collection at Lupin Diagnostics. Sanger sequencing is used to analyse the gene, and the process involves multiple steps, including DNA extraction, sequencing, and expert review.

Yes, speaking with a genetic counsellor before and after the test is generally recommended. A counsellor can help you understand what the test can and cannot detect, explain what different results might mean for you and your family, and guide your next steps based on the findings.