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GJB1 Gene Dejerine-Sottas disease NGS Genetic Test

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GJB1 Gene Dejerine-Sottas disease NGS Genetic Test

Short Name: GJB1 Gene NGS Test

Also known as: GJB1 Gene Sequencing, Dejerine-Sottas Disease Genetic Test, Connexin 32 Gene Test

GJB1 Gene Dejerine-Sottas disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for Variant Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually delivered within 4 to 5 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 this NGS genetic test is to identify sequence variants in the GJB1 gene that are associated with Dejerine-Sottas syndrome. It helps confirm the clinical diagnosis, guide genetic counselling, and inform family members about recurrence risks.

Test Code
3993
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually delivered within 4 to 5 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for Variant Confirmation
Step 1

Sample Collection

No fasting is required. Patients must provide their complete clinical history and attend a genetic counselling session to draw a family pedigree chart. For FTA cards, the collection area should be clean and dry.

Method: Peripheral Venipuncture / FTA Spot Collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample into an EDTA tube. If using an FTA card, a small drop of blood from a finger prick is applied to the card.

Step 3

Report Delivery

After blood collection, slight pressure is applied at the puncture site. There are no post-test restrictions and normal daily activities can be resumed immediately.

Timeline: Reports are usually delivered within 4 to 5 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session. The doctor will draw a pedigree chart of affected family members and explain the procedure.
2
During the Test:The sample (blood or FTA spot) is collected and sent to the laboratory for sequencing. NGS analysis is performed on the GJB1 gene.
3
After the Test:The lab will release a detailed report with variant interpretation and raw data. A genetic counsellor may call to explain the results.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify sequence variants in the GJB1 gene that are associated with Dejerine-Sottas syndrome. It helps confirm the clinical diagnosis, guide genetic counselling, and inform family members about recurrence risks.

How to Prepare

  • Do not eat before the test, but no fasting is required.
  • Bring the completed clinical history and consent form.
  • Inform the phlebotomist if the patient is on any anticoagulant medication.
  • For FTA card, ensure the blood spot is fully absorbed and air-dried before placing in the protective pouch.

Doctor's Notes

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

"Genetic counselling is essential for families with suspected hereditary neuropathies. An accurate molecular diagnosis helps guide reproductive and management decisions."

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 Blood / 2-3 µg DNA / 1 FTA Card spot
ContainerEDTA Tube / DNA Elution Tube / FTA Card
Collection MethodPeripheral Venipuncture / FTA Spot Collection

Sample Stability

Whole blood (EDTA) at room temperature: 24 hours
Whole blood (EDTA) at 2-8°C: 72 hours
Extracted DNA at -20°C: 1 month
FTA card at room temperature: 6 months
Sample Rejection Criteria:
  • Incorrectly labelled sample
  • Insufficient sample volume
  • Extracted DNA with OD 260/280 ratio less than 1.8
  • Missing signed consent form or clinical history

Understanding Your Results

The results are interpreted by a clinical geneticist in the context of the patient’s clinical presentation and family pedigree. Variants are classified based on ACMG guidelines.
Pathogenic variant detected: Confirms a molecular diagnosis of GJB1-related hereditary neuropathy.
Likely pathogenic variant detected: Strongly suggests disease causality; further family segregation testing may be recommended.
Variant of uncertain significance (VUS) detected: The variant is not clearly associated with disease; additional studies may be needed.
No pathogenic variant detected: Reduces the likelihood of a GJB1-related condition, but other genes may still be responsible.
⚠️ When to Consult a Doctor:

If the result is positive or a VUS is identified, a consultation with a neurologist or clinical geneticist is strongly advised. Additionally, if symptoms persist and genetic testing is negative, consult your physician for further evaluation directed towards other hereditary neuropathies.

Limitations

  • ⚠NGS may not detect large deletions/duplications involving GJB1; such variants require MLPA or other methods
  • ⚠Deep intronic variants outside the target region are not evaluated
  • ⚠Non-coding regulatory region variants are not detected
  • ⚠The test only analyses GJB1 gene and not other genes associated with inherited peripheral neuropathies

Risks & Considerations

  • ●Bruising at venipuncture site
  • ●Minor bleeding
  • ●Infection (rare)
  • ●Slight discomfort during blood draw

Interfering Factors

  • ●Poor DNA quantity or quality
  • ●Presence of PCR inhibitors in the sample
  • ●Improper sample storage or transportation
  • ●Contamination with other DNA sources

Compare With Similar Tests

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Frequently Asked Questions

What is Dejerine-Sottas disease?
Dejerine-Sottas disease is a rare inherited neuromuscular disorder affecting peripheral nerves. It is characterised by childhood onset of muscle weakness, sensory loss, and delayed motor milestones. It is often caused by pathogenic variants in genes such as GJB1.
How is the GJB1 gene related to Dejerine-Sottas disease?
The GJB1 gene provides instructions to produce connexin 32, a protein essential for gap junction communication in Schwann cells. Mutations in GJB1 can disrupt myelination and nerve conduction, leading to a hereditary motor and sensory neuropathy with a broad clinical spectrum, including Dejerine-Sottas-like presentations.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can rapidly read multiple DNA fragments in parallel. It enables accurate detection of sequence variants in target genes such as GJB1.
What is the cost of the GJB1 Gene Dejerine-Sottas NGS Genetic Test at DNA Labs India?
The test is priced at INR 20,000. This includes the NGS analysis, clinical report, genetic counselling, and raw data files (FASTQ and VCF) for complete transparency.
What sample is required for the test?
You can provide either a blood sample in an EDTA tube, extracted DNA, or a one-drop blood spot on an FTA card. All three methods are accepted for the test.
Do I need to fast before the test?
No, fasting is not required for this GJB1 NGS genetic test. You can eat and drink normally before sample collection.
How long does it take to get the report?
Reports are typically available within 4 to 5 weeks after the sample is received in the laboratory. This timeline includes sequencing, bioinformatic analysis, variant interpretation and clinical review.
Will I receive raw data files along with the report?
Yes. DNA Labs India is transparent and provides the raw sequence data files (FASTQ and VCF) along with the conclusive clinical report. You can request these from the lab after testing.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings for this test. Our phlebotomist will visit your location across 200+ cities in India.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant was detected in the GJB1 gene. This confirms the genetic diagnosis and supports the clinical findings of Dejerine-Sottas disease or GJB1-related neuropathy.
Can this test confirm Dejerine-Sottas disease?
This test is designed to detect GJB1 gene mutations, which account for a subset of Dejerine-Sottas-like hereditary neuropathies. A positive genetic result confirms the cause, but clinical correlation and a neurologist’s evaluation are necessary for a full diagnosis.
Are there any risks associated with the test?
The test only requires a simple blood sample or FTA card blood spot. Risks are minimal and limited to bruising, minor bleeding, or rare infection at the collection site.
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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