TUBB2B Gene Polymicrogyria asymmetric NGS Genetic Test
Short Name: TUBB2B NGS Test
Also known as: TUBB2B Gene Sequencing, Polymicrogyria Genetic Test, TUBB2B Mutation Analysis
TUBB2B Gene Polymicrogyria asymmetric 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 delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of asymmetric polymicrogyria by identifying pathogenic variants in the TUBB2B gene. It helps in differentiating from other forms of polymicrogyria, providing prognostic information, and enabling accurate genetic counseling for affected families.
- Test Code
- 5908
- 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
- Reports are delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of asymmetric polymicrogyria by identifying pathogenic variants in the TUBB2B gene. It helps in differentiating from other forms of polymicrogyria, providing prognostic information, and enabling accurate genetic counseling for affected families.
How to Prepare
- Ensure the patient's identity is verified with two identifiers.
- Use EDTA tube for blood collection; mix gently to prevent clotting.
- If using FTA card, apply blood drops to the marked circles and air dry for at least 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Transport the sample to the lab within 24-48 hours; avoid extreme temperatures.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for TUBB2B is crucial for confirming the diagnosis of asymmetric polymicrogyria, guiding management and recurrence risk counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged storage (>72 hours) without refrigeration
Understanding Your Results
Positive (Pathogenic/Likely Pathogenic variant)
Confirms the diagnosis of TUBB2B-related polymicrogyria. Genetic counseling is recommended for family planning and recurrence risk assessment.
Negative (No pathogenic variant)
No disease-causing variant was found in the TUBB2B gene. This does not rule out polymicrogyria; other genetic causes may be considered.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Further testing of family members may help clarify.
If you or your child experience symptoms such as developmental delay, seizures, or abnormal brain MRI findings suggestive of polymicrogyria, consult a neurologist or geneticist for evaluation and possible testing.
Limitations
- ⚠This test detects single nucleotide variants and small indels in the TUBB2B gene; large deletions/duplications may not be identified.
- ⚠Variants in non-coding regions or regulatory elements may not be covered.
- ⚠Negative result does not exclude the possibility of polymicrogyria due to other genes.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings (unrelated to the test purpose)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Maternal cell contamination in prenatal samples
- ●Presence of large deletions/duplications not detected by standard NGS (unless CNV analysis is included)
Compare With Similar Tests
| Test | TUBB2B Gene Polymicrogyria asymmetric NGS Genetic Test | Chromosomal Microarray (CMA) | Targeted TUBB2B Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | TUBB2B Gene Polymicrogyria asymmetric NGS Genetic Test | CMA detects copy number variations (deletions/duplications) across the genome, but does not detect single nucleotide variants in TUBB2B. NGS is more suitable for point mutations. | Sanger sequencing is limited to specific exons and is less comprehensive than NGS, which covers the entire coding region with higher sensitivity. | WES analyzes all coding genes, but is more expensive and may have longer turnaround time. This targeted NGS test is cost-effective for suspected TUBB2B-related polymicrogyria. |
Frequently Asked Questions
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