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EOMES Gene Neuronal migration disorder NGS Genetic Test

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EOMES Gene Neuronal migration disorder NGS Genetic Test

Short Name: EOMES NGS Test

Also known as: EOMES Gene Sequencing, EOMES Next-Generation Sequencing, Neuronal Migration Disorder NGS Test, EOMES Mutation Analysis

EOMES Gene Neuronal migration disorder NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to sequence the EOMES gene for mutations associated with neuronal migration disorder, confirm a genetic cause, help guide prognosis and management, and provide accurate recurrence risk information for families.

Test Code
4415
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation
Step 1

Sample Collection

A genetic counselling session is recommended before the test to draw a pedigree chart and collect the affected family history.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A small amount of blood is collected in an EDTA tube. If using an FTA card, one drop of blood is placed on the card.

Step 3

Report Delivery

No special precautions are needed. You can resume daily activities immediately.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. A pre-test genetic counselling session is recommended.
2
During the Test:A small blood sample is drawn. If using an FTA card, a simple finger-prick is done.
3
After the Test:You can resume daily activities immediately. The genetic counsellor will explain the report when it is ready.

About This Test

Who Should Get This Test

The purpose of this test is to sequence the EOMES gene for mutations associated with neuronal migration disorder, confirm a genetic cause, help guide prognosis and management, and provide accurate recurrence risk information for families.

How to Prepare

  • No fasting is required.
  • Use an EDTA vacutainer for whole blood collection.
  • For FTA card, apply one drop of blood from a finger prick.
  • Label the sample with the patient's name and date of birth.
  • Complete the genetic counselling and test requisition form.

Doctor's Notes

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

"A targeted EOMES gene test is useful when clinical features and brain imaging suggest a neuronal migration defect. The report should always be interpreted by a clinical geneticist in the context of the complete family history and neurological findings."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL whole blood or equivalent extracted DNA
ContainerEDTA tube / FTA Card
Collection MethodVenipuncture or finger-prick

Sample Stability

Sample Rejection Criteria:
  • Hemolysed or clotted blood
  • Insufficient sample volume
  • Improperly labelled sample
  • FTA cards without patient demographic details
  • Sample thawed during transport

Understanding Your Results

The test report should be interpreted by a clinical geneticist or genetic counsellor in the context of the clinical presentation, imaging findings and family pedigree.
📊

No pathogenic variant detected

Negative result. No disease-causing variant was identified in the EOMES gene. Other genetic or non-genetic causes may still be present.

📊

Pathogenic or Likely Pathogenic variant detected

Positive result. Supports the diagnosis of EOMES-related neuronal migration disorder. Genetic counselling is recommended for the family and recurrence risk assessment.

📊

Variant of Uncertain Significance (VUS)

Inconclusive result. The clinical significance of the variant is not yet known. Further testing of family members or functional studies may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist, paediatrician or clinical geneticist if you or your child have unexplained seizures, developmental delay, intellectual disability, abnormal movements, abnormal head size, or MRI findings suggestive of cortical malformation.

Limitations

  • ⚠This test detects point mutations and small insertions/deletions in the EOMES gene.
  • ⚠It does not detect large deletions, duplications, copy number changes, deep intronic variants or epigenetic changes.
  • ⚠A negative result does not exclude all genetic causes of neuronal migration disorder.

Risks & Considerations

  • ●Mild pain, bruising or bleeding at the venipuncture site
  • ●Infection at the puncture site (rare)
  • ●Fainting or dizziness during blood collection

Interfering Factors

  • ●Low DNA quantity or poor DNA quality
  • ●Hemolysed or clotted blood sample
  • ●Incorrectly labelled sample
  • ●Maternal cell contamination in prenatal samples

Compare With Similar Tests

TestEOMES Gene Neuronal migration disorder NGS Genetic TestEOMES single-gene NGSNeuronal migration disorder gene panelWhole exome sequencing
ComparisonEOMES Gene Neuronal migration disorder NGS Genetic Test

Frequently Asked Questions

What is EOMES gene neuronal migration disorder NGS genetic test?
It is a targeted next-generation sequencing test that analyses the EOMES gene for mutations that can cause neuronal migration disorder. The test helps confirm diagnosis and guide genetic counselling.
Which conditions are associated with EOMES mutations?
Mutations in EOMES are associated with neuronal migration disorders and malformations of cortical development. Symptoms can include seizures, neurodevelopmental delay, intellectual disability, and movement disorders.
Who should undergo this test?
Individuals with clinical or MRI features of cortical malformation or neuronal migration delay, unexplained seizures, intellectual disability, or developmental delay, especially after review by a neurologist or geneticist.
What sample is needed for the test?
Blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card are accepted for this test.
Is fasting required before the EOMES NGS test?
No, fasting is not required. This is a DNA-based genetic test.
How long will the report take?
Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of the EOMES NGS genetic test at DNA Labs India?
The discounted price is Rs 20000 including home sample collection across India.
Does DNA Labs India provide home sample collection?
Yes, free home sample collection is available in many Indian cities when you book online through the website.
What does a 'pathogenic variant' result mean?
It means a disease-causing change was found in the EOMES gene, supporting the diagnosis of EOMES-related neuronal migration disorder. Genetic counselling is advised for family implications.
Can a negative result rule out all neuronal migration disorders?
No. A negative result only means no pathogenic variant was detected in the EOMES gene; other genetic and non-genetic causes may still exist. Broader testing may be discussed.
What is a variant of uncertain significance (VUS)?
A VUS is a DNA change whose impact on gene function is not yet established. It requires additional segregation analysis, functional studies, or re-evaluation in the future to determine its clinical relevance.
How should I book this test?
You can book online at the DNA Labs India website or call the helpline. Our genetic counselling team will assist with pretest information and scheduling home sample collection.
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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