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DNA Labs India

EMX2 Gene Schizencephaly NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

EMX2 Gene Schizencephaly NGS Genetic Test

Short Name: EMX2 Schizencephaly NGS Test

Also known as: EMX2 gene test for schizencephaly, Schizencephaly genetic test, EMX2 mutation analysis

EMX2 Gene Schizencephaly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose schizencephaly by identifying mutations in the EMX2 gene using NGS technology, providing insights for genetic counseling and management.

Test Code
2806
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Sample collected via blood draw or saliva. Minimal discomfort, quick procedure.

Step 3

Report Delivery

Apply pressure to puncture site if blood drawn. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications and provide informed consent.
2
During the Test:Sample collection takes a few minutes; test performed in lab using NGS technology.
3
After the Test:Wait for results; genetic counseling recommended to interpret findings and plan next steps.

About This Test

Who Should Get This Test

To diagnose schizencephaly by identifying mutations in the EMX2 gene using NGS technology, providing insights for genetic counseling and management.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow lab protocols for sample handling

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test is crucial for early diagnosis and management of schizencephaly, helping families understand genetic risks and plan appropriate care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries
Collection MethodBlood draw or saliva collection

Sample Stability

Blood: 24-48 hours at room temperature
DNA: Stable for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the EMX2 gene associated with schizencephaly, guiding clinical decisions.
Positive result: Pathogenic mutation detected, indicating genetic risk for schizencephaly; consult genetic counselor.
Negative result: No pathogenic variants detected; clinical correlation recommended.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of schizencephaly are present, such as developmental delays or seizures, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results should be correlated with clinical findings
  • ⚠Not a standalone diagnostic tool

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of genetic results
  • ●Potential for uncertain or inconclusive results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

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ComparisonEMX2 Gene Schizencephaly NGS Genetic Test

Frequently Asked Questions

What is the EMX2 Gene Schizencephaly NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to analyze the EMX2 gene for mutations associated with schizencephaly, a rare brain disorder.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, which includes genetic counseling and support services.
What is schizencephaly?
Schizencephaly is a congenital disorder characterized by abnormal clefts in the brain cortex, leading to symptoms like developmental delays and seizures.
How is the test performed?
The test requires a blood or saliva sample, which is analyzed using NGS technology to detect mutations in the EMX2 gene.
What are the symptoms of schizencephaly?
Common symptoms include developmental delays, seizures, intellectual disability, speech difficulties, and motor coordination problems.
Who should take this test?
Individuals with symptoms of schizencephaly, a family history of the condition, or abnormal brain imaging findings should consider this test.
How accurate is the test?
The test is highly accurate for detecting mutations in the EMX2 gene, but results should be correlated with clinical findings.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the EMX2 gene, suggesting genetic risk for schizencephaly; genetic counseling is recommended.
What does a negative result mean?
A negative result means no pathogenic variants were detected, but clinical evaluation is still necessary as other factors may be involved.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample submission.
Is genetic counseling included?
Yes, the test cost includes genetic counseling and support services to help interpret results and plan management.
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.

LIMS Integration

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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