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TUBB2B Gene Microcephaly, TUBB2B related NGS Genetic Test

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TUBB2B Gene Microcephaly, TUBB2B related NGS Genetic Test

Short Name: TUBB2B Microcephaly NGS Test

Also known as: TUBB2B Microcephaly Genetic Test, TUBB2B NGS Genetic Test

TUBB2B Gene Microcephaly, TUBB2B related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose TUBB2B gene microcephaly by detecting mutations in the TUBB2B gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
2777
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with TUBB2B gene microcephaly.

Method: Blood draw or DNA extraction

Step 2

Laboratory Analysis

Standard blood draw or cheek swab collection under sterile conditions.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Sample collection via blood draw or cheek swab, followed by laboratory analysis.
3
After the Test:Results are reviewed by a genetic specialist, and genetic counseling is provided for interpretation.

About This Test

Who Should Get This Test

To diagnose TUBB2B gene microcephaly by detecting mutations in the TUBB2B gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use appropriate collection tubes for blood or FTA cards
  • Label samples correctly and transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or DNA extraction

Sample Stability

Blood samples: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Incorrectly labeled or insufficient sample volume
  • Samples not meeting stability requirements

Understanding Your Results

Results indicate whether pathogenic mutations in the TUBB2B gene are detected, which can confirm a diagnosis of TUBB2B gene microcephaly.
Positive result: Pathogenic variant detected, indicating TUBB2B gene microcephaly
Negative result: No pathogenic variants detected, but clinical correlation is needed
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of microcephaly are present, such as small head size, developmental delays, or seizures, or if there is a family history of genetic disorders.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic causes of microcephaly

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the TUBB2B Gene Microcephaly NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the TUBB2B gene, which causes microcephaly, a condition with a smaller than average head size.
What is the cost of the TUBB2B Gene Microcephaly NGS Genetic Test?
The cost at DNA Labs India is INR 20,000, which includes the test, genetic counseling, and a detailed report.
What are the symptoms of TUBB2B gene microcephaly?
Symptoms include small head size, developmental delays, cognitive impairments, seizures, muscle spasms, and abnormal eye movements, typically appearing in infancy or early childhood.
How is the test performed?
The test involves collecting a blood sample or cheek swab, extracting DNA, and analyzing the TUBB2B gene using NGS technology.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Who should consider this test?
Individuals with suspected microcephaly, family history of TUBB2B mutations, or symptoms like developmental delays and seizures should consider this test.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the TUBB2B gene, confirming a diagnosis of TUBB2B gene microcephaly.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising. Genetic results may have psychological implications.
Is genetic counseling included?
Yes, genetic counseling is included in the test cost to help interpret results and provide support.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis, but prenatal testing may be possible in consultation with a genetic specialist.
What should I do if I receive a negative result?
A negative result does not rule out other genetic causes; consult a doctor for further evaluation if symptoms persist.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.
For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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