TUBB Gene Neurodevelopmental disorder, TUBB related NGS Genetic Test
Short Name: TUBB Gene NGS Genetic Test
Also known as: TUBB-related neurodevelopmental disorder gene test, Beta-tubulin gene NGS test, TUBB gene mutation analysis
TUBB Gene Neurodevelopmental disorder, TUBB related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation if a reportable variant is detected on Blood or Extracted DNA or one drop Blood on FTA Card samples. Results in 3 to 4 weeks after the laboratory receives and verifies the sample.. 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 test is to detect pathogenic variants in the TUBB gene in individuals with clinical features suggestive of a TUBB-related neurodevelopmental disorder. The test helps to confirm or exclude a genetic diagnosis, refine the underlying etiology, guide medical management, and provide information for recurrence-risk counseling.
- Test Code
- 4410
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or one drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the laboratory receives and verifies the sample.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger confirmation if a reportable variant is detected
Sample Collection
No fasting is required. A genetic counseling session to draw a pedigree chart of family members is recommended before the test. The patient’s clinical history and relevant imaging findings should be shared with the laboratory.
Method: Venipuncture / FTA card spot collection
Laboratory Analysis
Blood sample collection is a simple procedure. For FTA card collection, one drop of blood is applied to the marked circle on the card.
Report Delivery
No special precautions are required after sample collection. The sample is transported to the laboratory and reports are generally available in 3 to 4 weeks.
Timeline: 3 to 4 weeks after the laboratory receives and verifies the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the TUBB gene in individuals with clinical features suggestive of a TUBB-related neurodevelopmental disorder. The test helps to confirm or exclude a genetic diagnosis, refine the underlying etiology, guide medical management, and provide information for recurrence-risk counseling.
How to Prepare
- For blood sample: collect in an EDTA vacutainer using standard venipuncture technique.
- For FTA card: apply one drop of blood directly on the marked circle and allow it to air dry.
- Label the sample correctly with the patient’s full name, date of birth, and unique identification number.
- Store and transport at room temperature as per the laboratory’s instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a clinician involved in genetic and reproductive counseling, I emphasize that TUBB gene NGS testing should be ordered only after a detailed clinical assessment and pretest counseling. The result must be interpreted alongside MRI findings and family history, especially when a variant of uncertain significance is reported."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labeled or unlabeled sample
- Clotted or hemolyzed blood sample
- Insufficient quantity of extracted DNA
- Sample stored under improper temperature for an extended period
- Broken or leaking transport container
Understanding Your Results
Consistent with a molecular diagnosis of TUBB-related neurodevelopmental disorder. Genetic counseling and familial testing are recommended.
Result type: Pathogenic or Likely Pathogenic variant
Cannot be classified as pathogenic based on current evidence. Additional segregation analysis, functional studies, or broader genetic testing may be considered.
Result type: Variant of Uncertain Significance (VUS)
Does not exclude a TUBB-related disorder. Other genetic or environmental etiologies should be considered in consultation with a specialist.
Result type: No pathogenic variant detected
Not believed to cause disease. No further action is required for this variant.
Result type: Benign or Likely Benign variant
Consult a neurologist or clinical geneticist if the child has unexplained developmental delay, intellectual disability, seizures, microcephaly, or abnormal brain imaging. If a TUBB gene variant has been identified in the family, discuss recurrence risk and reproductive options with a genetic counselor and an obstetrician.
Limitations
- ⚠This test is directed at the TUBB gene and may not detect variants in other genes responsible for neurodevelopmental disorders
- ⚠Large deletions, duplications, deep intronic variants, and regulatory region variants may not be detected unless separately requested
- ⚠A negative result does not completely exclude a genetic cause
- ⚠Variant classification may change as new scientific evidence becomes available
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Dizziness or lightheadedness during blood collection
- ●Hematoma at the blood draw site
- ●Psychological or emotional distress from uncertain or positive genetic findings
Interfering Factors
- ●No fasting or dietary restrictions are required for this DNA-based test
- ●Poor DNA quality or quantity can affect the sequencing results
- ●Sample contamination with another person’s DNA may interfere with interpretation
- ●Rare technical artifacts may occasionally require repeat testing
Frequently Asked Questions
What is TUBB gene neurodevelopmental disorder?
What symptoms may be seen in TUBB gene neurodevelopmental disorder?
How is TUBB gene neurodevelopmental disorder diagnosed?
What is the price of the TUBB gene NGS genetic test at DNA Labs India?
What sample is required for the TUBB gene NGS genetic test?
Is fasting required for the test?
When will the TUBB gene NGS test report be ready?
Why should I ask for raw data, FASTQ, and VCF files?
Is home sample collection available for this test?
Who should consider this TUBB gene NGS test?
What does a negative test result mean?
Can this test identify all causes of neurodevelopmental disorders?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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