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WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic Test

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WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic Test

Short Name: WWOX Gene EIEE28 NGS Test

Also known as: EIEE28, WWOX-related epileptic encephalopathy, WWOX gene mutation test

WWOX Gene Early infantile epileptic encephalopathy type 28 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 typically available within 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the WWOX Gene NGS Genetic Test is to accurately diagnose Early Infantile Epileptic Encephalopathy Type 28 (EIEE28) by identifying pathogenic mutations in the WWOX gene. This enables early intervention, tailored treatment plans, and genetic counseling for affected families.

Test Code
1598
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and genetic counseling information.

Method: Venipuncture or FTA Card application

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or application of one drop on FTA card by trained personnel.

Step 3

Report Delivery

Sample is processed and analyzed in the laboratory. Genetic counseling is provided post-test to discuss results.

Timeline: Reports are typically available within 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and obtain informed consent. Provide detailed clinical and family history.
2
During the Test:Blood sample collection, which is a minimally invasive procedure. The sample is sent to the laboratory for NGS analysis.
3
After the Test:Receive genetic counseling to interpret results. Follow-up with neurologist for treatment planning if diagnosis confirmed.

About This Test

Who Should Get This Test

The purpose of the WWOX Gene NGS Genetic Test is to accurately diagnose Early Infantile Epileptic Encephalopathy Type 28 (EIEE28) by identifying pathogenic mutations in the WWOX gene. This enables early intervention, tailored treatment plans, and genetic counseling for affected families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes or FTA cards
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early diagnosis of EIEE28 through WWOX gene testing can inform treatment strategies, improve management, and provide families with crucial prognostic information."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood in EDTA tube: stable for 7 days at room temperature
FTA card: stable for years at room temperature if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate whether pathogenic mutations in the WWOX gene are detected. A positive result confirms EIEE28, while a negative result suggests no known mutations, but clinical correlation is essential.
📊

Detected (Pathogenic Variant)

Confirms diagnosis of EIEE28. Genetic counseling and targeted management recommended.

📊

Not Detected

No pathogenic variants found in WWOX gene. Consider other genetic or non-genetic causes if clinical suspicion remains.

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified but clinical significance unknown. Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or neurologist if your child shows symptoms of seizures, developmental delays, or if a positive result is obtained, for tailored management and family planning.

Limitations

  • May not detect all types of genetic variants, such as deep intronic mutations
  • Variant of uncertain significance (VUS) may be reported, requiring further evaluation
  • Test does not rule out other genetic or non-genetic causes of epilepsy

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or discomfort at the puncture site
  • Psychological impact of genetic test results, addressed through counseling

Interfering Factors

  • Poor sample quality or insufficient DNA
  • Contamination during sample collection or processing
  • Hemolyzed or lipemic blood samples

Compare With Similar Tests

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ComparisonWWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic Test

Frequently Asked Questions

What is Early Infantile Epileptic Encephalopathy Type 28 (EIEE28)?
EIEE28 is a rare genetic disorder caused by mutations in the WWOX gene, leading to seizures, developmental delays, and other neurological issues in infants under one year of age.
How is the WWOX Gene NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the WWOX gene from a blood or DNA sample, detecting mutations with high accuracy.
What is the cost of the WWOX Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, which includes the test, genetic counseling, and support services.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic mutations in the WWOX gene are detected, helping diagnose EIEE28. A positive result confirms the condition, while a negative result may indicate other causes.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes genetic counseling and support services as part of the test cost.
Who should consider getting this test?
The test is recommended for infants with seizures, developmental delays, or a family history of EIEE28, as advised by a neurologist or geneticist.
What are the risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising. Psychological support is available through counseling.
Can the test detect all mutations in the WWOX gene?
While highly accurate, the test may not detect all types of variants, such as deep intronic mutations. Discuss limitations with your healthcare provider.
How can I prepare for the test?
No special preparation is needed. Provide accurate clinical and family history during the pre-test genetic counseling session.
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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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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Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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