EGR2 Gene Dejerine-Sottas disease NGS Genetic Test
Short Name: EGR2 Gene NGS Test
Also known as: Dejerine-Sottas Disease Genetic Test, EGR2 Gene Mutation Analysis, Charcot-Marie-Tooth Disease Type 3 Genetic Test
EGR2 Gene Dejerine-Sottas disease 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 issued within 3 to 4 weeks after the sample is received.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the EGR2 gene that cause Dejerine-Sottas disease. It is also used to differentiate inherited peripheral neuropathies and guide genetic counseling.
- Test Code
- 3996
- 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 after the sample is received.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended before the test to discuss the procedure, benefits, risks, and implications of genetic testing.
Method: Venipuncture / FTA card spot
Laboratory Analysis
A standard blood sample is collected from a vein in the arm, or a single drop of blood is placed on an FTA card.
Report Delivery
You may leave the laboratory immediately after the sample collection. No restrictions on daily activities.
Timeline: Reports are issued within 3 to 4 weeks after the sample is received.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the EGR2 gene that cause Dejerine-Sottas disease. It is also used to differentiate inherited peripheral neuropathies and guide genetic counseling.
How to Prepare
- Ensure the FTA card is properly labelled with patient name and date of birth.
- For blood draw, use an EDTA vacutainer to obtain 3–5 ml of peripheral blood.
- If using extracted DNA, ensure quality and quantity are sufficient for NGS.
- Transport the sample at ambient temperature as per the laboratory's instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Dejerine-Sottas disease is crucial for confirming the clinical diagnosis, assessing recurrence risk, and enabling family planning decisions. Patients with early-onset peripheral neuropathy should be referred for NGS-based genetic analysis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Insufficient sample quantity
- Improper storage or transportation
- Unlabelled or mislabelled sample
Understanding Your Results
No pathogenic variant detected
Negative result; the individual is unlikely to have EGR2-related Dejerine-Sottas disease. Consider testing other neuropathy-related genes if symptoms persist.
Pathogenic variant detected
Positive result; confirms the molecular diagnosis of Dejerine-Sottas disease caused by EGR2 mutation. Predictive testing can be offered to at-risk family members.
Variant of uncertain significance (VUS) detected
The variant is novel and its clinical significance is unknown. Family segregation studies and functional analysis may be helpful.
If you have a family history of Dejerine-Sottas disease or if you experience symptoms such as progressive muscle weakness, numbness, or difficulty walking, you should consult a neurologist or a genetic counselor for evaluation and testing.
Limitations
- ⚠NGS targets only the coding exons and flanking splice sites of the EGR2 gene; mutations in intronic or regulatory regions may not be identified.
- ⚠This test cannot detect large structural rearrangements, repeat expansions, or mitochondrial mutations.
- ⚠A negative result does not eliminate the possibility of Dejerine-Sottas disease due to mutations in other genes.
Risks & Considerations
- ●Minimal discomfort during blood sample collection
- ●Possible bruising at the puncture site
- ●Rare risk of infection
- ●Excess bleeding in individuals with bleeding disorders
Interfering Factors
- ●Presence of large gene deletions or duplications may not be detected by NGS
- ●Mosaic mutations with low allele frequency may be missed
- ●DNA quality and quantity can impact test accuracy
- ●Medically-relevant variants in non-coding regions are not analyzed
Frequently Asked Questions
What is the cost of the EGR2 Gene Dejerine-Sottas disease NGS Genetic Test?
What is Dejerine-Sottas disease?
What are the symptoms of Dejerine-Sottas disease?
How is Dejerine-Sottas disease diagnosed?
What is the NGS Genetic Test?
What sample is required for this test?
How long does it take to get the test report?
Is home sample collection available for this test?
Do I need to fast before the EGR2 gene NGS test?
Who should consider this genetic test?
What does a positive result on this test mean?
What does a negative result on this test mean?
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