NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
Short Name: NR2E1 Polymicrogyria NGS
Also known as: NR2E1 gene sequencing, Bilateral occipital polymicrogyria genetic test, NR2E1-related polymicrogyria NGS test
NR2E1 Gene Polymicrogyria bilateral occipital 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 The final report is usually delivered within 3 to 4 weeks after sample receipt. You will be notified when the report is available.. 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 NGS genetic test is to identify clinically significant variants in the NR2E1 gene that may be responsible for bilateral occipital polymicrogyria. It helps confirm a clinical suspicion of a genetic brain malformation, enables early targeted management of seizures and developmental issues, and provides information for family counselling and recurrence risk assessment.
- Test Code
- 4470
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The final report is usually delivered within 3 to 4 weeks after sample receipt. You will be notified when the report is available.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Patients are advised to bring their prescription/referral letter and any prior MRI or neurological reports. A genetic counselling session is recommended before testing to draw a pedigree chart of family members affected with NR2E1 gene polymicrogyria bilateral occipital.
Method: Peripheral venous blood draw, FTA card blood spot, or DNA sample submission
Laboratory Analysis
A small amount of venous blood is collected in an EDTA tube. If using FTA card, a single drop of blood is applied to the designated circles. For extracted DNA, the sample should be submitted in a sterile, labelled tube. The process is quick and causes minimal discomfort.
Report Delivery
No special precautions are required after sample collection. You can resume daily activities immediately. The lab will share the report, raw data files (FASTQ and VCF), and supporting clinical interpretation once analysis is complete.
Timeline: The final report is usually delivered within 3 to 4 weeks after sample receipt. You will be notified when the report is available.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify clinically significant variants in the NR2E1 gene that may be responsible for bilateral occipital polymicrogyria. It helps confirm a clinical suspicion of a genetic brain malformation, enables early targeted management of seizures and developmental issues, and provides information for family counselling and recurrence risk assessment.
How to Prepare
- No fasting required.
- Continue current medications unless stated otherwise.
- Bring a valid doctor's referral for the genetic test.
- Complete the consent form and genetic counselling documentation.
- Inform the lab about any recent blood transfusion or bone marrow transplant.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation allows targeted seizure management and early developmental intervention. A multidisciplinary approach with neurology, clinical genetics, and neuroimaging is essential in polymicrogyria."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or visibly hemolyzed blood sample
- Insufficient DNA quantity or quality
- Incorrectly labelled sample
- Sample received outside the recommended transport temperature
- Missing consent form or referral documentation
Understanding Your Results
Positive – Pathogenic variant detected
Action: Confirms molecular diagnosis of NR2E1-related polymicrogyria. Genetic counselling and family testing recommended.
Positive – Likely pathogenic variant detected
Action: Likely diagnostic; additional evidence may be required. Consider family segregation analysis.
Negative – No pathogenic variant detected
Action: Does not exclude NR2E1-related polymicrogyria; other genetic causes may be considered. Further testing with chromosome microarray or broader brain malformation panel may be advised.
Variant of uncertain significance (VUS)
Action: Insufficient evidence to classify as benign or pathogenic. Additional family studies and clinical correlation needed.
Consult a neurologist and clinical geneticist if the child or adult has seizures, delayed milestones, muscle stiffness, vision or hearing impairment, or if a brain MRI has already reported suspicious cortical malformation.
Limitations
- ⚠NGS may not detect large deletions/duplications, repeat expansions, structural rearrangements, or deep intronic variants.
- ⚠A variant of uncertain significance may be reported and require further family segregation studies.
- ⚠A negative result does not exclude all genetic causes of polymicrogyria.
- ⚠Interpretation is based on current medical literature and genomic databases.
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●Rare local infection
- ●Potential anxiety from receiving genetic test results
Interfering Factors
- ●Improper sample collection or storage leading to DNA degradation
- ●Contamination of FTA card with non-target DNA
- ●Genetic mosaicism cannot be completely excluded
- ●Recent blood transfusion may dilute the patient's own DNA
Frequently Asked Questions
What is the NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic Test?
What is the cost of the test at DNA Labs India?
Which sample type is required?
Do I need to fast before the test?
How long will the reports take?
Will I get raw data files?
What mutations does this NGS test detect?
Can this test diagnose polymicrogyria?
Who should consider taking this test?
Does insurance cover this test?
What does a positive result mean?
Is genetic counselling required before testing?
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