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EGR2 Gene CMT4E NGS Genetic Test

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EGR2 Gene CMT4E NGS Genetic Test

Short Name: EGR2 CMT4E NGS Test

Also known as: EGR2 Gene Analysis, CMT4E Genetic Test, EGR2 NGS Gene Test

EGR2 Gene CMT4E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from sample receipt. The laboratory may take longer if additional confirmatory sequencing or variant classification is required.. 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-based genetic test is intended to detect pathogenic variants in the EGR2 gene associated with Charcot-Marie-Tooth disease type 4E. The test provides diagnostic confirmation, carrier detection, and family risk information. It is ordered by a neurologist or genetic specialist and requires pre-test genetic counselling.

Test Code
3967
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from sample receipt. The laboratory may take longer if additional confirmatory sequencing or variant classification is required.
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No fasting is required. A clinical history of the patient and family pedigree must be provided. A genetic counselling session is conducted before sample collection to draw a pedigree chart of family members affected with EGR2-related CMT4E.

Method: Blood draw / FTA card / DNA submission

Step 2

Laboratory Analysis

A blood sample is collected in an EDTA tube, or a dried blood spot is applied on an FTA card. Extracted DNA submitted by an accredited laboratory may also be accepted.

Step 3

Report Delivery

There are no activity restrictions. The sample is transported to the laboratory and processed for NGS. Results are shared after review by a genetic specialist.

Timeline: Reports are issued within 3 to 4 weeks from sample receipt. The laboratory may take longer if additional confirmatory sequencing or variant classification is required.

Patient Instructions

1
Before the Test:No fasting is required. You will have a genetic counselling session to discuss the purpose, benefits, limitations, and possible outcomes of the test. A detailed family history will be collected.
2
During the Test:A peripheral blood sample is collected, or a dried blood spot is taken on an FTA card, or an extracted DNA sample is submitted. The procedure is simple and usually takes less than 10 minutes.
3
After the Test:You may resume your normal activities immediately. The sample is processed in the laboratory using NGS technology, and the report is generally available within 3 to 4 weeks.

About This Test

Who Should Get This Test

This NGS-based genetic test is intended to detect pathogenic variants in the EGR2 gene associated with Charcot-Marie-Tooth disease type 4E. The test provides diagnostic confirmation, carrier detection, and family risk information. It is ordered by a neurologist or genetic specialist and requires pre-test genetic counselling.

How to Prepare

  • Collect blood in an EDTA tube.
  • For FTA card, apply one drop of blood and air dry completely.
  • Extracted DNA should be submitted in a sterile, labelled microcentrifuge tube.
  • Provide a completed clinical history and family pedigree chart.
  • No fasting or special diet is required.

Doctor's Notes

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

"Genetic counselling before the test helps document inheritance patterns and prepare the patient for possible results. Post-test counselling is essential to explain the significance of a pathogenic variant or a variant of uncertain significance. Referral to an obstetrician-gynecologist may be recommended when reproductive planning and prenatal options are needed."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot applicable
ContainerEDTA tube / FTA card / sterile microcentrifuge tube
Collection MethodBlood draw / FTA card / DNA submission

Sample Stability

Whole blood: transport at ambient temperature, preferably received within 48 hours.
FTA card: stable for several weeks at room temperature after complete drying.
Extracted DNA: stable at -20°C for long-term storage.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Incorrectly labelled sample
  • Insufficient DNA concentration or quantity
  • FTA card not completely dried
  • Sample received in improper transport conditions

Understanding Your Results

The interpretation of EGR2 gene sequencing should be performed in the context of clinical presentation, nerve conduction findings, family history, and genetic counselling.
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⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms such as progressive distal weakness, sensory loss, foot deformities, or nerve conduction abnormalities suggest hereditary neuropathy. Genetic counselling should be obtained before and after testing.

Limitations

  • ⚠This targeted assay only analyses the EGR2 gene. Other CMT genes are not included unless ordered as a broader panel.
  • ⚠NGS may not reliably detect large deletions, duplications, or structural variants.
  • ⚠A negative result does not completely exclude CMT4E, as variants may exist in regions not covered by the assay.

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Rare risk of infection
  • ●Psychological stress related to genetic test results

Interfering Factors

  • ●Degraded DNA or insufficient DNA concentration
  • ●Contamination with another individual's DNA
  • ●Variants of uncertain clinical significance may require additional family testing
  • ●Large rearrangements or deep intronic variants may not be detected by standard NGS

Compare With Similar Tests

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ComparisonEGR2 Gene CMT4E NGS Genetic Test

Frequently Asked Questions

What is the EGR2 Gene CMT4E NGS Genetic Test?
It is a targeted next-generation sequencing test that detects mutations in the EGR2 gene associated with Charcot-Marie-Tooth disease type 4E (CMT4E). It is used to confirm a clinical diagnosis, identify carriers, and guide family planning.
What is CMT4E?
CMT4E is a rare inherited peripheral neuropathy caused by mutations in the EGR2 gene. It causes damage to the myelin sheath of peripheral nerves, leading to progressive weakness, sensory loss, balance problems, and foot deformities.
What are the symptoms of CMT4E?
Symptoms include weakness in hands and feet, tingling or numbness, difficulty with balance and coordination, muscle cramps and spasms, hammertoes, or high arches in the feet. Symptoms usually begin in childhood or adolescence and worsen over time.
How is the test performed?
The test is performed using NGS on whole blood, dried blood spot on FTA card, or extracted DNA. The sample is processed in the laboratory to sequence the EGR2 gene and detect clinically significant variants.
Is fasting required before the EGR2 CMT4E genetic test?
No. This is a genetic test, and fasting is not required. However, you need to provide a detailed clinical history and complete a genetic counselling session to create a family pedigree.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant is detected in the EGR2 gene. This supports a diagnosis of CMT4E when clinical features are consistent. Genetic counselling is recommended to understand the implications.
What does a negative result mean?
A negative result means no pathogenic variant was identified in the tested regions of EGR2. It reduces the likelihood of CMT4E, but cannot completely exclude the diagnosis because some variants may not be detected by the applied method.
Who should consider this test?
Individuals with clinical features of CMT, a family history of CMT4E or EGR2-related neuropathy, ambiguous nerve conduction findings, and couples planning a family when one partner is a known carrier should consider the test.
Is home sample collection available?
Yes. DNA Labs India offers free home sample collection for online bookings for this test across many cities in India including Delhi, Mumbai, Bengaluru, Hyderabad, Chennai, and Kolkata.
How long does it take to get the report?
The report is typically available within 3 to 4 weeks after the sample is received at the laboratory.
Can this test identify carriers of CMT4E?
Yes, the test can detect heterozygous pathogenic variants in the EGR2 gene, which helps identify carriers and is useful for reproductive planning and genetic counselling.
What is the cost of the EGR2 Gene CMT4E NGS Genetic Test?
The test costs Rs 20000 at DNA Labs India. The price includes genetic counselling, pedigree analysis, and the NGS genetic test with an interpretive report.
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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