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MPZ Gene CMT1B NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MPZ Gene CMT1B NGS Genetic Test

Short Name: MPZ CMT1B NGS

Also known as: CMT1B Genetic Test, MPZ Gene Sequencing, Charcot-Marie-Tooth Type 1B NGS Panel, Hereditary Neuropathy Genetic Test

MPZ Gene CMT1B 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 from the time the sample is received in the laboratory.. 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

This NGS genetic test is designed to detect pathogenic variants in the MPZ gene, providing a molecular diagnosis for CMT1B in patients with suggestive clinical features, family history, or electrophysiological evidence of demyelinating neuropathy.

Test Code
3960
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 from the time the sample is received in the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended to draw a family pedigree and document the clinical history. Please carry any previous investigations and referral notes.

Method: Venous blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood from a vein in your arm. If using an FTA card, a few drops of blood will be placed on the card and dried.

Step 3

Report Delivery

You can leave the collection centre immediately after the sample is taken. The sample is securely transported to the DNA Labs India laboratory for processing.

Timeline: Reports are generally available within 3 to 4 weeks from the time the sample is received in the laboratory.

Patient Instructions

1
Before the Test:No fasting is needed. Please bring the completed test requisition form, clinical history, and any family pedigree chart to the sample collection site. A genetic counselling session is recommended before testing.
2
During the Test:A qualified technician will collect a small blood sample from your arm or a blood spot on an FTA card. The procedure is quick and causes minimal discomfort.
3
After the Test:You can resume normal activities immediately. Once the sample reaches the laboratory, DNA extraction, NGS sequencing, and data analysis are performed. Your doctor will receive the report after review by a geneticist.

About This Test

Who Should Get This Test

This NGS genetic test is designed to detect pathogenic variants in the MPZ gene, providing a molecular diagnosis for CMT1B in patients with suggestive clinical features, family history, or electrophysiological evidence of demyelinating neuropathy.

How to Prepare

  • No fasting is required. Eat and drink normally.
  • Blood samples should be collected in an EDTA vacutainer, if blood is being drawn.
  • If using an FTA card, allow the blood spot to air dry completely before sealing in the protective pouch.
  • Each sample must be clearly labelled with the patient's full name and date of birth.
  • Samples should be transported to the laboratory at ambient temperature.

Doctor's Notes

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

"A confirmed MPZ mutation should be interpreted alongside nerve conduction velocity, clinical examination, and family history. NGS is useful in differentiating CMT1B from other inherited neuropathies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer / FTA card / sterile tube
Collection MethodVenous blood draw or FTA card blood spot

Sample Stability

Whole blood (EDTA): 3 to 5 days at 2-8 degree Celsius.
Extracted DNA: Stable for 6 months at -20 degree Celsius.
FTA card blood spot: Stable for several months at room temperature.
Sample Rejection Criteria:
  • Haemolysed, clotted, or lipaemic blood sample.
  • Samples without proper labelling.
  • Insufficient sample volume or quantity of DNA.
  • Sample received with expired collection tube.

Understanding Your Results

The MPZ Gene CMT1B NGS Genetic Test is designed to identify molecular changes responsible for CMT1B. The report is issued with clinical interpretation and must be correlated with the patient's neurological examination and family history.
Pathogenic variant detected: Supports a diagnosis of CMT1B when clinical features are consistent.
Likely pathogenic variant detected: Highly suggestive of CMT1B; additional clinical correlation is needed.
Variant of uncertain significance (VUS): Further family segregation studies and functional evidence may be required.
No pathogenic variant detected: Does not exclude CMT1B if there is strong clinical suspicion; consider testing other CMT-related genes.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience progressive distal muscle weakness, foot deformities, numbness, tingling, or walking difficulties. Genetic testing should always be interpreted in the context of clinical evaluation.

Limitations

  • ⚠This test only analyses the MPZ gene; other CMT-causing genes are not evaluated.
  • ⚠Large gene rearrangements or deep intronic variants may not be reliably detected by this NGS assay.
  • ⚠Variants of uncertain significance do not provide a definite diagnosis.
  • ⚠A negative result does not rule out CMT1B if there is strong clinical suspicion.

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the blood collection site.
  • ●Rare infection at the puncture site.
  • ●FTA card collection involves a simple finger or heel prick and has minimal risk.

Interfering Factors

  • ●Sample degradation due to prolonged storage at high temperature.
  • ●Insufficient DNA quantity or quality for sequencing.
  • ●Contamination during sample collection or processing.
  • ●The presence of a second genetic variant that may complicate interpretation.

Compare With Similar Tests

TestMPZ Gene CMT1B NGS Genetic TestMPZ Gene CMT1B NGS Genetic TestPMP22 Gene CMT1A Genetic TestHereditary Neuropathy NGS Panel
ComparisonMPZ Gene CMT1B NGS Genetic TestTargeted test for CMT1B and MPZ-related neuropathies.Used when CMT1A is suspected, which is the most common CMT subtype.Broader test that is useful when the clinical subtype is uncertain.

Frequently Asked Questions

What is the MPZ Gene CMT1B NGS Genetic Test?
It is a next-generation sequencing test that looks for mutations in the MPZ gene. Pathogenic variants in MPZ cause Charcot-Marie-Tooth disease type 1B. This test helps confirm a clinical diagnosis by identifying a disease-causing genetic change.
How much does the test cost at DNA Labs India?
The test is priced at INR 20,000. The price includes the NGS analysis, expert genetic interpretation, and clinical report. It also includes free home sample collection for online bookings.
What kind of sample is needed?
A blood sample in an EDTA tube, extracted DNA, or a single drop of blood collected on an FTA card is acceptable. The test is non-invasive and simple.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before the test. However, a genetic counselling session and clinical history are recommended before testing.
How long does it take to get results?
Reports are usually available within 3 to 4 weeks from the time the sample is received in the laboratory.
What does a positive result mean?
A positive result means a disease-causing mutation in the MPZ gene was found. This supports the diagnosis of CMT1B, especially when symptoms and family history are consistent.
What does a negative result mean?
A negative result means no mutation was detected in the MPZ gene. It does not completely rule out CMT1B or another type of CMT, and clinical correlation is essential.
Can this test detect all types of CMT?
No, this test specifically analyses MPZ gene mutations. CMT can be caused by many other genes, such as PMP22, GJB1, and MFN2. A broader hereditary neuropathy panel may be considered if the clinical picture suggests another subtype.
Does DNA Labs India provide raw data with the report?
Yes. DNA Labs India provides the conclusive clinical report along with raw data files, including FASTQ and VCF files, for transparency and independent verification.
Why is genetic counselling recommended before testing?
Genetic counselling helps create a detailed family pedigree, explain the benefits and limitations of testing, and prepare the patient for the implications of possible results. It is an essential part of the pre-test process.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across all major cities in India.
Will my insurance cover this test?
Coverage varies by insurer and policy. Some health insurance plans may cover genetic testing. Please check with your insurance provider before scheduling the test.
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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