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MTMR2 Gene CMT4B1 NGS Genetic Test

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MTMR2 Gene CMT4B1 NGS Genetic Test

Short Name: MTMR2 CMT4B1 NGS Test

Also known as: CMT4B1 Genetic Test, MTMR2 Mutation Analysis Test, Charcot-Marie-Tooth Type 4B1 Gene Test, MTMR2 Sequencing Test, MTMR2 Gene NGS Panel

MTMR2 Gene CMT4B1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from the date of sample collection. Free home collection in 300+ cities across India.

NeurologistAll 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 MTMR2 Gene CMT4B1 NGS Genetic Test is to identify pathogenic mutations in the MTMR2 gene that cause Charcot-Marie-Tooth disease type 4B1. This test serves multiple clinical purposes: confirming a clinical diagnosis of CMT4B1 in symptomatic individuals, identifying the specific causative mutation for targeted genetic counseling, enabling carrier testing and prenatal diagnosis in affected families, differentiating CMT4B1 from other subtypes of Charcot-Marie-Tooth disease with overlapping clinical presentations, and facilitating enrollment in clinical trials or emerging gene-specific therapies. Early and accurate molecular diagnosis through this test is essential for guiding appropriate clinical management, rehabilitation strategies, and family planning decisions.

Test Code
1559
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date of sample collection
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required)
Step 1

Sample Collection

Genetic counseling is strongly recommended prior to testing to discuss the implications of the test results, inheritance pattern, and potential impact on family members. A detailed clinical history of the patient and a pedigree chart of family members affected with CMT4B1 or related neurological disorders should be prepared. No fasting is required. Inform the laboratory of any recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) tube. Alternatively, one drop of blood can be collected on an FTA card. The collection process is similar to a routine blood draw and takes approximately 5 to 10 minutes. Home collection service is available across India at no additional charge.

Step 3

Report Delivery

After sample collection, the blood sample is transported to the laboratory under controlled ambient conditions. DNA extraction is performed followed by NGS library preparation, sequencing, bioinformatics analysis, and variant interpretation. Results are typically available within 3 to 4 weeks. A follow-up genetic counseling session is recommended to discuss the test results.

Timeline: 3 to 4 weeks from the date of sample collection

Patient Instructions

1
Before the Test:Schedule a genetic counseling session prior to testing. Provide complete clinical history, including onset and progression of symptoms, family pedigree chart showing affected members, nerve conduction study results, and any previous genetic test reports. No fasting is required. Inform the laboratory of any recent blood transfusions or bone marrow transplants.
2
During the Test:A trained phlebotomist will collect a blood sample via venipuncture (3-5 mL in an EDTA tube) or one drop of blood on an FTA card. The procedure takes approximately 5 to 10 minutes. Free home sample collection is available across India for online bookings. The collection process involves minimal discomfort similar to a routine blood draw.
3
After the Test:After sample collection, the blood sample is transported to the DNA Labs India laboratory under controlled conditions. DNA is extracted and analyzed using NGS technology. Results are typically available within 3 to 4 weeks. You will receive your report via the online portal, email, and/or WhatsApp. A post-test genetic counseling session is recommended to discuss the results, their implications, and next steps for management and family planning.

About This Test

Who Should Get This Test

The primary purpose of the MTMR2 Gene CMT4B1 NGS Genetic Test is to identify pathogenic mutations in the MTMR2 gene that cause Charcot-Marie-Tooth disease type 4B1. This test serves multiple clinical purposes: confirming a clinical diagnosis of CMT4B1 in symptomatic individuals, identifying the specific causative mutation for targeted genetic counseling, enabling carrier testing and prenatal diagnosis in affected families, differentiating CMT4B1 from other subtypes of Charcot-Marie-Tooth disease with overlapping clinical presentations, and facilitating enrollment in clinical trials or emerging gene-specific therapies. Early and accurate molecular diagnosis through this test is essential for guiding appropriate clinical management, rehabilitation strategies, and family planning decisions.

How to Prepare

  • Collect 3-5 mL venous blood in an EDTA (lavender-top) vacutainer tube
  • Alternatively, apply one drop of blood on an FTA card and allow to dry completely
  • Label the sample tube or FTA card clearly with patient name, date of birth, and unique ID
  • Ensure the sample is not hemolyzed or clotted
  • Transport at ambient room temperature (15-30°C)
  • Do not freeze whole blood samples
  • Include completed test requisition form with clinical history

Doctor's Notes

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

"CMT4B1 is a rare autosomal recessive demyelinating neuropathy that is frequently underdiagnosed due to clinical overlap with other forms of Charcot-Marie-Tooth disease. Early molecular confirmation through NGS-based MTMR2 gene analysis enables accurate diagnosis, targeted genetic counseling for affected families, and informed long-term management. I recommend this test for any patient presenting with early-onset demyelinating neuropathy, especially when an autosomal recessive inheritance pattern is suspected or when other common CMT genetic tests have returned negative results."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender-top) tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume (less than 2 mL)
  • Sample received without proper labeling or identification
  • Severely degraded DNA upon quality assessment
  • Sample received without completed requisition form or clinical history
  • Contaminated FTA card or improperly stored sample

Understanding Your Results

The results of the MTMR2 Gene CMT4B1 NGS Genetic Test will indicate whether pathogenic or likely pathogenic mutations in the MTMR2 gene have been identified. A positive result confirms the molecular diagnosis of CMT4B1 and identifies the specific causative variant(s). Variants are classified according to ACMG/AMP guidelines into five categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, and Benign. Results should always be interpreted in conjunction with clinical findings, family history, and nerve conduction study results by a qualified geneticist or neurologist.
📊

Pathogenic or Likely Pathogenic variant identified

High – Diagnostic confirmation

📊

Variant of Uncertain Significance (VUS)

Indeterminate – Requires further evaluation

📊

Likely Benign or Benign variant identified

Low – Not diagnostic of CMT4B1

📊

No pathogenic variant identified

Negative – Further investigation may be needed

⚠️ When to Consult a Doctor:

Consult your doctor or genetic counselor if you or your child experience progressive muscle weakness in the legs or feet, difficulty walking or running, foot deformities such as high arches or hammertoes, numbness or tingling in the hands and feet, or a family history of Charcot-Marie-Tooth disease. If you receive a positive genetic test result, genetic counseling is strongly recommended to understand the implications for family members and to discuss carrier testing and reproductive options.

Limitations

  • ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations beyond flanking splice regions
  • ⚠Variants of uncertain significance (VUS) may be identified and may require further clinical correlation
  • ⚠A negative result does not completely exclude CMT4B1 if the causative mutation is in a non-coding regulatory region
  • ⚠Mosaicism at low levels below the detection threshold may not be identified
  • ⚠This test specifically targets the MTMR2 gene and does not screen for mutations in other CMT-associated genes

Risks & Considerations

  • ●Minimal physical risk associated with blood collection such as slight bruising, pain, or infection at the venipuncture site
  • ●Potential psychological or emotional impact of receiving genetic test results, particularly positive findings
  • ●Risk of identifying variants of uncertain significance (VUS) that may cause anxiety or uncertainty
  • ●Possible incidental findings in the MTMR2 gene or nearby genes of uncertain clinical relevance
  • ●Financial cost of the test, though it is competitively priced at INR 20,000

Interfering Factors

  • ●Highly degraded DNA may reduce sequencing quality and coverage
  • ●Hemolyzed blood samples may affect DNA extraction yield
  • ●Recent blood transfusion within 4 weeks may affect results due to donor DNA contamination
  • ●Co-administered medications generally do not interfere with DNA-based testing
  • ●Presence of pseudogenes or homologous sequences may require additional confirmatory analysis

Compare With Similar Tests

TestMTMR2 Gene CMT4B1 NGS Genetic TestMTMR2 Gene CMT4B1 NGS Genetic TestPMP22 Gene CMT1A Deletion/Duplication TestMPZ Gene CMT1B NGS Genetic TestGJB1 Gene CMTX1 NGS Genetic TestComprehensive CMT NGS Panel
ComparisonMTMR2 Gene CMT4B1 NGS Genetic Test

Frequently Asked Questions

What is the MTMR2 Gene CMT4B1 NGS Genetic Test?
The MTMR2 Gene CMT4B1 NGS Genetic Test is a next-generation sequencing-based diagnostic test that analyzes the entire MTMR2 gene to detect mutations responsible for Charcot-Marie-Tooth disease type 4B1 (CMT4B1). It identifies point mutations, insertions, deletions, and splice-site variants that lead to the production of a non-functional myotubularin-related protein 2 enzyme, causing peripheral nerve demyelination.
What is CMT4B1 and how does it differ from other forms of CMT?
CMT4B1 is a rare autosomal recessive form of Charcot-Marie-Tooth disease caused by mutations in the MTMR2 gene. Unlike the more common CMT1A (caused by PMP22 duplication), CMT4B1 is inherited in an autosomal recessive pattern, meaning both copies of the gene must be mutated. CMT4B1 is characterized by myelin outfoldings on nerve biopsy, early onset, and a demyelinating neuropathy pattern, and is generally more severe than autosomal dominant forms.
What symptoms indicate the need for the MTMR2 Gene CMT4B1 NGS Genetic Test?
Symptoms that may warrant this test include progressive muscle weakness and atrophy in the lower legs and feet, difficulty walking or running, foot deformities such as high arches or hammertoes, numbness or tingling in the hands and feet, pain in the feet or legs, reduced or absent deep tendon reflexes, and difficulty with fine motor skills such as writing or buttoning clothes. These symptoms typically begin in childhood or early adolescence in CMT4B1.
What sample is required for the MTMR2 Gene CMT4B1 NGS Genetic Test?
The test requires a blood sample (3-5 mL collected in an EDTA lavender-top tube), extracted DNA, or one drop of blood on an FTA card. The blood sample is collected via standard venipuncture, similar to a routine blood draw. No fasting is required prior to sample collection.
What is the cost of the MTMR2 Gene CMT4B1 NGS Genetic Test at DNA Labs India?
The MTMR2 Gene CMT4B1 NGS Genetic Test costs INR 20,000 at DNA Labs India. This special discounted price is available across India and includes complimentary home sample collection for online bookings. The cost covers NGS sequencing, bioinformatics analysis, variant interpretation, genetic counseling report, and delivery of Raw Data, FASTQ, and VCF files along with the clinical report.
How long does it take to receive the test results?
Results for the MTMR2 Gene CMT4B1 NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample collection. This timeframe includes DNA extraction, NGS library preparation, sequencing, bioinformatics analysis, variant interpretation, and quality review. Reports are delivered via the online portal, email, and/or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings of the MTMR2 Gene CMT4B1 NGS Genetic Test. This service is available across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. A trained phlebotomist will visit your home at a scheduled time to collect the blood sample.
What does a positive (pathogenic variant) test result mean?
A positive result means that one or more pathogenic or likely pathogenic mutations have been identified in the MTMR2 gene. For autosomal recessive CMT4B1, two pathogenic variants (either homozygous or compound heterozygous) confirm the molecular diagnosis. This result confirms the genetic cause of the neuropathy and enables genetic counseling for family members, carrier testing for relatives, and informed reproductive planning. It does not predict disease severity or progression with certainty.
Can this test detect all types of MTMR2 gene mutations?
The NGS-based test can detect most types of MTMR2 gene mutations including single nucleotide variants (point mutations), small insertions and deletions (indels), and splice-site variants across all coding exons and flanking intronic regions. However, it may not detect large genomic rearrangements, copy number variations, or deep intronic mutations outside the targeted sequencing regions. If a negative result is obtained but clinical suspicion remains high, additional testing methods such as MLPA or whole-genome sequencing may be recommended.
Is genetic counseling recommended before and after this test?
Yes, genetic counseling is strongly recommended both before and after the MTMR2 Gene CMT4B1 NGS Genetic Test. Pre-test counseling helps you understand the implications of testing, potential outcomes, and impact on family members. Post-test counseling is essential to interpret the results, discuss inheritance patterns, evaluate carrier status of family members, and explore reproductive options such as carrier testing, prenatal diagnosis, or preimplantation genetic diagnosis.
Does DNA Labs India provide raw genomic data files with the test report?
Yes, DNA Labs India is the only laboratory in India that transparently provides Raw Data, FASTQ, and VCF files along with the conclusive clinical test report for the MTMR2 Gene CMT4B1 NGS Genetic Test. This allows patients and their physicians to review the raw sequencing data independently or seek second opinions, ensuring full transparency and empowering informed decision-making.
Who should consider getting the MTMR2 Gene CMT4B1 NGS Genetic Test?
This test should be considered for: individuals with clinical features of demyelinating Charcot-Marie-Tooth disease, particularly with childhood onset and suspected autosomal recessive inheritance; patients with CMT who have tested negative for common CMT genes (PMP22, MPZ, GJB1); family members of known CMT4B1 patients seeking carrier testing; couples with a family history of CMT4B1 planning pregnancies; and individuals with nerve biopsy findings showing myelin outfoldings suggestive of CMT4B1.
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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