NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
Short Name: NR2E1 Polymicrogyria NGS
Also known as: NR2E1 Gene Mutation Test, Bilateral Occipital Polymicrogyria Genetic Test, NR2E1 Sequencing
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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic variants in the NR2E1 gene that are associated with bilateral occipital polymicrogyria. This test aids in confirming a clinical diagnosis, providing prognostic information, and enabling informed reproductive decisions for families. It also helps in differentiating NR2E1-related polymicrogyria from other genetic causes of cortical malformations.
- Test Code
- 5911
- CPT Code
- 81407
- ICD Code
- Q04.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please provide a detailed clinical history and any relevant imaging reports.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. If using FTA card, a fingerstick blood drop will be collected. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You may resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the NR2E1 gene that are associated with bilateral occipital polymicrogyria. This test aids in confirming a clinical diagnosis, providing prognostic information, and enabling informed reproductive decisions for families. It also helps in differentiating NR2E1-related polymicrogyria from other genetic causes of cortical malformations.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- If using FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of NR2E1 mutations can guide management and family counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (pathogenic variant detected)
Confirms the diagnosis of NR2E1-related bilateral occipital polymicrogyria. Genetic counseling and family testing are recommended.
Negative (no pathogenic variant detected)
No mutation in NR2E1 gene was found. This does not rule out polymicrogyria; other genetic or environmental causes should be considered.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further segregation analysis or functional studies may be needed.
If you or your child have symptoms suggestive of polymicrogyria, such as developmental delays, seizures, or vision problems, consult a neurologist or geneticist. Also, if you have a family history of the condition, genetic counseling is advised.
Limitations
- ⚠This test only analyzes the NR2E1 gene; other genes associated with polymicrogyria are not covered.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Variants of uncertain significance may be reported; further testing may be required.
- ⚠Negative results do not exclude a genetic cause; other genes or non-genetic etiologies may be responsible.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for variants of uncertain significance
Interfering Factors
- ●Poor quality DNA due to improper sample handling
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplant (may affect results)
Compare With Similar Tests
| Test | NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Targeted Polymicrogyria Panel |
|---|---|---|---|---|
| Comparison | NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test |
Frequently Asked Questions
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