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EGR2 Gene CMT1D NGS Genetic Test

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EGR2 Gene CMT1D NGS Genetic Test

Short Name: EGR2 CMT1D NGS

Also known as: EGR2 Gene Mutation Test, CMT1D NGS Genetic Test

EGR2 Gene CMT1D 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 Results are typically available in 3 to 4 weeks after sample receipt. Delays can occur if repeat testing is needed.. 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 test is intended for individuals showing clinical features of Charcot-Marie-Tooth disease, for confirmation of a suspected EGR2-related CMT1D, and for cascade testing of family members once a familial mutation is identified. It helps distinguish CMT1D from other hereditary neuropathies and informs prognosis, rehabilitation, and reproductive decisions.

Test Code
3963
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available in 3 to 4 weeks after sample receipt. Delays can occur if repeat testing is needed.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific pretreatment requirements. Patients may eat and drink normally. A valid doctor's prescription and family history details are recommended.

Method: Venipuncture or Blood Spot on FTA Card

Step 2

Laboratory Analysis

During blood collection, the patient sits comfortably while a tourniquet is applied and blood is drawn by phlebotomy. If an FTA card is used, a few drops of blood are collected from a fingertip.

Step 3

Report Delivery

After collection, apply pressure to the puncture site. The sample is labeled and sent to the lab. No restrictions follow.

Timeline: Results are typically available in 3 to 4 weeks after sample receipt. Delays can occur if repeat testing is needed.

Patient Instructions

1
Before the Test:No special preparation. Patients should bring relevant clinical notes, imaging or EMG reports, and family history documentation. Genetic counseling is strongly advised before the test.
2
During the Test:A trained healthcare professional will collect 3-5 mL of peripheral blood, or an FTA card blood spot, or accept an extracted DNA sample. The process takes approximately 10-15 minutes.
3
After the Test:There are no activity restrictions. The sample is transported to the reference laboratory. Reports will be ready in 3 to 4 weeks and shared directly by email or on the patient portal.

About This Test

Who Should Get This Test

This test is intended for individuals showing clinical features of Charcot-Marie-Tooth disease, for confirmation of a suspected EGR2-related CMT1D, and for cascade testing of family members once a familial mutation is identified. It helps distinguish CMT1D from other hereditary neuropathies and informs prognosis, rehabilitation, and reproductive decisions.

How to Prepare

  • Use EDTA vial for whole blood.
  • Alternatively, extract DNA and send at 4°C.
  • For FTA card, allow the spot to dry completely before sealing.
  • Please enclose clinician referral and genetic counseling summary.

Doctor's Notes

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

"A definitive genetic diagnosis helps patients and families at multiple levels. It clarifies the risk for relatives, enables reproductive planning, and ensures that patients receive the correct physiotherapy and follow-up. NGS technology has made targeted genetic testing like this highly accurate."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA Card
Collection MethodVenipuncture or Blood Spot on FTA Card

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Clotted or hemolyzed blood
  • Undried FTA card
  • Unlabeled or mislabeled sample
  • Sample leaking in transit

Understanding Your Results

Results need to be interpreted in the context of clinical findings, family history, and ancillary testing.
📊

Positive - Pathogenic variant

Confirms the clinical diagnosis of CMT1D; family members at risk may undergo predictive testing.

📊

Positive - Likely pathogenic variant

Highly suggestive of CMT1D; additional data may be required to clarify pathogenicity.

📊

Negative

No pathogenic variant identified in the EGR2 gene; does not exclude CMT1D if other genes are involved.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further familial segregation analysis is recommended.

⚠️ When to Consult a Doctor:

If you experience progressive foot weakness, gait disturbance, loss of sensation in extremities, or if you have a family member with CMT, consult a neurologist or clinical geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠NGS may not detect large genomic deletions/duplications in all cases.
  • ⚠Deep intronic variants or promoter mutations may be missed.
  • ⚠This test is limited to the EGR2 gene and does not rule out other hereditary neuropathies unless a broader panel is used.

Risks & Considerations

  • ●Minimal risk of bruising at the venipuncture site
  • ●Slight dizziness during blood collection
  • ●Potential emotional distress from genetic test results

Interfering Factors

  • ●DNA contamination from another individual may cause erroneous results.
  • ●Poor sample quality (degraded DNA) may lead to unsuccessful sequencing.
  • ●Maternal cell contamination if a prenatal sample is used.

Compare With Similar Tests

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Frequently Asked Questions

What is the EGR2 gene CMT1D NGS genetic test?
This is a targeted next-generation sequencing test that analyzes the EGR2 gene to identify pathogenic mutations responsible for Charcot-Marie-Tooth disease type 1D (CMT1D). It helps confirm diagnosis and aids in genetic counseling.
What is CMT1D disease?
CMT1D is a rare inherited peripheral neuropathy caused by mutations in the EGR2 gene. It affects myelin production, leading to slow nerve signals, muscle weakness, and sensory loss, typically beginning in childhood or adolescence.
What are the common symptoms of CMT1D?
Symptoms include foot drop, high arched feet, hammertoes, difficulty walking on uneven surfaces, numbness or tingling in hands/feet, and progressive weakness in the lower legs. The severity varies from person to person.
How is the test performed?
The test is performed on a blood sample, extracted DNA, or a drop of blood spotted on an FTA card. Next-generation sequencing technology is used to read the complete coding sequence of the EGR2 gene and look for variations.
Is fasting required for this test?
No. Fasting is not required for the EGR2 gene CMT1D NGS genetic test. You can eat and drink normally before sample collection.
How long will it take to get the reports?
Reports are typically delivered in 3 to 4 weeks from the time the sample reaches the laboratory. The turnaround may be longer if a repeat analysis or confirmation testing is needed.
What is the cost of the EGR2 gene CMT1D NGS genetic test?
The cost of the test at DNA Labs India is Rs 20000. This includes the genetic test and free home sample collection in most cities. Additional costs may be incurred for genetic counseling or confirmatory tests if required.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across a wide range of cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and more.
Who needs genetic counseling before the test?
Anyone undergoing genetic testing for a hereditary neuropathy like CMT1D should have a genetic counseling session. This allows a pedigree to be drawn, helps assess recurrence risk, and ensures that the patient understands the implications of the test result.
What does a positive result mean?
A positive result means a disease-causing mutation was found in the EGR2 gene. This confirms the clinical diagnosis of CMT1D. Family members may also be at risk and should consider targeted testing and counseling.
What does a negative result mean?
A negative result means that no disease-causing mutation was detected in the EGR2 gene. This does not completely exclude CMT1D, as there could be other genes or mutations not covered by this test. Further genetic testing or neurological workup may be recommended.
Does insurance or government schemes cover this test?
Genetic testing is often not covered by standard insurance policies in India. However, coverage under schemes like PMJAY, CGHS, ECHS, and ESIC depends on the individual policy. We recommend checking with your insurance provider beforehand.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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