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DNM2 Gene DI-CMTB NGS Genetic Test

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DNM2 Gene DI-CMTB NGS Genetic Test

Short Name: DNM2 DI-CMTB NGS

Also known as: DNM2 Gene Sequencing, DNM2 Mutation Analysis, DNM2 DI-CMTB Genetic Test, DNM2 Centronuclear Myopathy NGS Test

DNM2 Gene DI-CMTB 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 delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect pathogenic or likely pathogenic variants in the DNM2 gene. Such variants are associated with DNM2-related autosomal dominant intermediate Charcot-Marie-Tooth disease type B and centronuclear myopathy. Identifying a genetic cause helps confirm the clinical diagnosis, allows for better family counselling, and may guide future management and surveillance plans.

Test Code
4009
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 delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. Please bring a valid ID, any previous genetic or neurology consultation reports, and details of affected family members if available.

Method: Venipuncture / FTA blood spot

Step 2

Laboratory Analysis

A blood sample is collected from a vein in the arm. If an FTA card is used, a few drops of blood are placed on the card by a trained healthcare professional.

Step 3

Report Delivery

You may leave immediately after sample collection and return to normal activities. If a blood sample was collected, press the collection site gently for a few minutes to prevent bruising.

Timeline: Reports are generally delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Share clinical history and family pedigree with the geneticist.
2
During the Test:The sample collection procedure takes about 5-10 minutes.
3
After the Test:You can resume normal activities. Reports will be delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic or likely pathogenic variants in the DNM2 gene. Such variants are associated with DNM2-related autosomal dominant intermediate Charcot-Marie-Tooth disease type B and centronuclear myopathy. Identifying a genetic cause helps confirm the clinical diagnosis, allows for better family counselling, and may guide future management and surveillance plans.

How to Prepare

  • Free home sample collection is available across select cities in India
  • Ensure sample is collected at the scheduled time; no fasting required
  • Home collection slots can be booked online
  • Follow any additional instructions given by the laboratory or healthcare provider

Doctor's Notes

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

"Genetic testing for DNM2-associated disorders should always be paired with pre-test genetic counselling so that patients and families understand the possible results and their implications. If the test is performed during pregnancy or for family planning, a broader discussion with a clinical geneticist and obstetrician is important."

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 requirement
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture / FTA blood spot

Sample Stability

Whole blood: 24-48 hours at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable at ambient temperature for several years
Sample Rejection Criteria:
  • Hemolysed or inadequately labelled sample
  • Insufficient blood volume
  • Clotted sample after collection
  • Leaking or broken sample container

Understanding Your Results

The result should be interpreted in the context of the patient's clinical symptoms, family history, and neurological examination findings. Genetic counselling is strongly recommended before and after testing.
Negative: No pathogenic variant detected in the DNM2 gene
Positive: A pathogenic or likely pathogenic variant consistent with DNM2-related disorder is detected
Variant of uncertain significance (VUS): A DNA change of unknown clinical significance is found; further family segregation studies may be required
Family testing: Once a pathogenic variant is identified, targeted testing for at-risk relatives can be offered
⚠️ When to Consult a Doctor:

If you or your family member have symptoms such as progressive muscle weakness, difficulty walking, foot drop, hand weakness, ptosis, dysphagia, or breathing difficulties, please consult a neurologist or a clinical geneticist. A doctor can help decide whether DNM2 gene testing is appropriate.

Risks & Considerations

  • Minimal risk of bruising or discomfort at the venipuncture site
  • Very low risk of infection or prolonged bleeding

Interfering Factors

  • Poor quality or degraded DNA
  • Low DNA quantity
  • Maternal cell contamination
  • Incomplete coverage of certain DNM2 gene regions due to GC-rich areas

Compare With Similar Tests

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Frequently Asked Questions

What is the price of the DNM2 Gene DI-CMTB NGS Genetic Test?
The price is INR 20,000 at DNA Labs India. This includes genetic counselling, sample collection, NGS analysis, and interpretation of results.
What does the DNM2 Gene DI-CMTB NGS Genetic Test detect?
It detects pathogenic variants in the DNM2 gene using next-generation sequencing. These changes are associated with DNM2-related conditions including DI-CMTB and centronuclear myopathy.
What is DI-CMTB?
DI-CMTB is a form of autosomal dominant intermediate Charcot-Marie-Tooth disease associated with variants in the DNM2 gene. It affects peripheral nerves causing muscle weakness, especially in the feet and hands.
Who should consider this test?
Individuals with unexplained muscle weakness, foot deformities, family history of CMT, or clinical suspicion of DNM2-related myopathy or neuropathy may consider this test after clinical evaluation.
What sample is needed for the test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before sample collection.
When will I get the report?
Reports are generally available in 3 to 4 weeks from the date the sample is received by the laboratory.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in major cities across India.
Why is NGS technology used for this test?
NGS allows rapid parallel sequencing of the DNM2 gene, enabling detection of point mutations and small insertions/deletions with high accuracy and good coverage.
What does a negative test result mean?
A negative result means no pathogenic variants were identified in the regions of the DNM2 gene analyzed. It does not exclude the possibility of other genetic or non-genetic causes.
Can this test be done during pregnancy?
If medically indicated, a blood sample can be collected during pregnancy. Please consult your obstetrician and a clinical geneticist to determine whether genetic testing is appropriate.
How should the result be used clinically?
The result should be interpreted in the context of clinical symptoms, family history, and nerve conduction studies. Genetic counselling is strongly recommended before and after testing.
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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