TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
Short Name: TUBG1 Gene NGS Test
Also known as: TUBG1 Gene Mutation Test, Gamma-tubulin Gene NGS Test, Microcephaly NGS Genetic Test
TUBG1 Gene Neurodevelopmental malformation and microcephaly 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 report is generally available within 3 to 4 weeks of sample receipt.. 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
To identify pathogenic variants in the TUBG1 gene associated with neurodevelopmental malformations and microcephaly, enabling accurate diagnosis and management.
- Test Code
- 4405
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The report is generally available within 3 to 4 weeks of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before testing to draw a pedigree chart and review the family history of neurodevelopmental malformations or microcephaly.
Method: Blood draw or FTA card spot
Laboratory Analysis
A small blood sample is collected by a phlebotomist, or a one-drop blood sample is placed on an FTA card. Extracted DNA samples are accepted when already available.
Report Delivery
No special precautions are needed. The sample is sent to the laboratory for NGS analysis.
Timeline: The report is generally available within 3 to 4 weeks of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the TUBG1 gene associated with neurodevelopmental malformations and microcephaly, enabling accurate diagnosis and management.
How to Prepare
- Collect blood in an EDTA tube or on an FTA card as instructed.
- Label the sample tube/card with patient name and unique ID.
- If providing extracted DNA, ensure it is in a sterile DNAase-free tube.
- Avoid repeated freeze-thaw cycles for extracted DNA samples.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TUBG1-associated conditions is helpful when there is a clinical suspicion of microcephaly or structural brain malformation. It assists in accurate diagnosis, management planning, and reproductive counselling in familial cases."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed blood sample
- Improperly labelled specimen
- Insufficient DNA quantity or quality
- Unmatched or missing requisition form
Understanding Your Results
No pathogenic variant detected
No disease-causing variant was identified in the TUBG1 gene. Other genetic or non-genetic causes may be considered.
Pathogenic / Likely pathogenic variant detected
The variant is associated with TUBG1-related neurodevelopmental malformation or microcephaly. Genetic counselling and family testing are recommended.
Variant of uncertain significance (VUS)
The variant cannot yet be classified as pathogenic or benign. Further family studies or functional analysis may be needed.
Consult a clinical geneticist, neurologist, or pediatric neurologist if the report identifies a pathogenic or likely pathogenic variant, or if a VUS requires interpretation in the context of clinical findings.
Limitations
- ⚠NGS may not detect large deletions, duplications, or structural rearrangements.
- ⚠Deep intronic or regulatory variants may not be identified.
- ⚠Variant of uncertain significance may require additional testing or family studies.
- ⚠The test is limited to the TUBG1 gene and does not rule out other genetic causes.
Risks & Considerations
- ●Minor pain or bruising at the blood collection site
- ●Dizziness or fainting during blood draw
- ●No significant medical risks are associated with this test
Interfering Factors
- ●Sample contamination
- ●Poor DNA quality or quantity
- ●Maternal cell contamination
- ●Low sequencing coverage of certain regions
Compare With Similar Tests
| Test | TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test |
Frequently Asked Questions
What is the cost of the TUBG1 gene NGS genetic test?
What sample is required for this test?
Do I need to fast before the test?
How long does the report take?
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Is genetic counselling required before the test?
Which conditions are covered by this test?
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Can children undergo this genetic test?
What does a positive test result mean?
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Is home sample collection available?
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