TUBB3 Gene Cortical dysplasia, complex, with other brain malformations, type 1 NGS Genetic Test
Short Name: TUBB3 NGS Genetic Test
Also known as: TUBB3-Related Cortical Dysplasia, Cortical Dysplasia Complex Type 1, TUBB3 Gene Mutation Analysis
TUBB3 Gene Cortical dysplasia, complex, with other brain malformations, type 1 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 will be delivered in 3 to 4 weeks after the sample reaches the laboratory. You will receive an email/SMS when the report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To confirm a clinical diagnosis of TUBB3-associated cortical dysplasia type 1, identify the pathogenic variant in the TUBB3 gene, aid in genetic counseling, and provide information for family planning and disease management.
- Test Code
- 3979
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports will be delivered in 3 to 4 weeks after the sample reaches the laboratory. You will receive an email/SMS when the report is ready.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. A pre-test genetic counseling session is recommended to obtain a detailed family pedigree and discuss the purpose, risks and benefits of testing.
Method: Peripheral blood venipuncture or DNA extraction or FTA blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist using standard sterile techniques. If an FTA card is used, one drop of blood is placed on the designated circle.
Report Delivery
No restrictions. You can resume normal activities. The sample will be transported to the laboratory at ambient temperature.
Timeline: Reports will be delivered in 3 to 4 weeks after the sample reaches the laboratory. You will receive an email/SMS when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a clinical diagnosis of TUBB3-associated cortical dysplasia type 1, identify the pathogenic variant in the TUBB3 gene, aid in genetic counseling, and provide information for family planning and disease management.
How to Prepare
- No fasting is required
- Use a sterile EDTA tube for blood collection
- For FTA card, apply one drop of blood to the circle and allow to dry
- Label the sample clearly with patient name, date of birth, and collection date
- If sending extracted DNA, ensure it is in a sterile, leak-proof tube with a minimum concentration of 20 ng/µl
- Ship samples at ambient temperature via reliable courier; avoid extreme heat or freezing
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis in infants or children with cortical dysplasia and developmental delay is essential for prognosis, management, and family planning. I always recommend genetic counseling before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood
- Improperly labeled sample
- Insufficient DNA quantity (<100 ng)
- Sample received in a wrong container
- Degraded DNA showing fragmentation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of TUBB3-associated cortical dysplasia type 1; supports clinical findings and enables genetic counseling.
Likely pathogenic variant detected
Variant likely disease-causing; clinical correlation recommended and family segregation studies may be useful.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; further research or family testing required.
No pathogenic variant detected
No mutation found in the TUBB3 gene; alternative diagnosis may be considered.
If you or your child have symptoms such as seizures, developmental delay, unusual brain MRI findings, or a family history of TUBB3-associated disorders, consult a neurologist or clinical geneticist. Genetic testing can provide a definitive diagnosis and help guide treatment and medical management.
Limitations
- ⚠This test detects single nucleotide variants and small insertions/deletions in the TUBB3 gene
- ⚠Large genomic rearrangements (deletions/duplications) are not routinely detected unless copy number analysis is included
- ⚠Variants of uncertain significance may require additional family studies
- ⚠The test cannot distinguish between somatic and germline variants
- ⚠A negative result does not exclude the diagnosis if clinical suspicion remains high
Risks & Considerations
- ●No significant risks associated with blood collection
- ●Minor bruising or bleeding at the puncture site
- ●Emotional impact of genetic results
Interfering Factors
- ●Poor DNA quality can affect NGS performance
- ●Sample contamination may lead to inaccurate results
- ●Use of anticoagulants other than EDTA may interfere with DNA extraction
Compare With Similar Tests
| Test | TUBB3 Gene Cortical dysplasia, complex, with other brain malformations, type 1 NGS Genetic Test | Targeted Sanger Sequencing | Whole Exome Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | TUBB3 Gene Cortical dysplasia, complex, with other brain malformations, type 1 NGS Genetic Test |
Frequently Asked Questions
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