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DNA Labs India

TBR1 Gene Intellectual disability, TBR1 related NGS Genetic Test

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TBR1 Gene Intellectual disability, TBR1 related NGS Genetic Test

Short Name: TBR1 Gene Test

Also known as: TBR1-related intellectual disability, TBR1 gene mutation test

TBR1 Gene Intellectual disability, TBR1 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.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the TBR1 gene associated with intellectual disability, enabling accurate diagnosis, genetic counseling, and tailored management strategies.

Test Code
1634
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with TBR1-related disorders.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture; ensure proper labeling and avoid hemolysis.

Step 3

Report Delivery

Sample processed for DNA extraction and NGS analysis; report delivered within 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications; provide clinical history.
2
During the Test:Blood sample collection; no special preparation required.
3
After the Test:Wait for report delivery; follow up with healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the TBR1 gene associated with intellectual disability, enabling accurate diagnosis, genetic counseling, and tailored management strategies.

How to Prepare

  • Avoid hemolysis during blood draw
  • Label sample with patient details accurately
  • Store sample at ambient room temperature

Doctor's Notes

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

"Genetic testing for TBR1 mutations is essential for confirming diagnosis and guiding personalized care for intellectual disability."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted or hemolyzed blood
  • Incorrect sample labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TBR1 gene. A positive result confirms genetic basis for intellectual disability, while a negative result may require further testing.
Pathogenic variant detected: Associated with TBR1 gene intellectual disability; recommend clinical correlation and genetic counseling.
No pathogenic variant detected: Genetic cause unlikely; consider other etiologies.
Variant of uncertain significance: Requires further evaluation and family studies.
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms of intellectual disability are present, especially with a family history, or after receiving test results.

Limitations

  • ⚠Test may not detect all genetic variants
  • ⚠Requires interpretation by a genetic specialist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection at the puncture site.

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Frequently Asked Questions

What is TBR1 gene intellectual disability?
It is a genetic condition caused by mutations in the TBR1 gene, leading to cognitive impairments due to disrupted cerebral cortex development.
What are the symptoms of TBR1 gene intellectual disability?
Common symptoms include delayed speech, poor social skills, motor difficulties, behavioral issues, and seizures.
How is TBR1 gene intellectual disability diagnosed?
Diagnosis involves genetic testing using NGS to identify mutations in the TBR1 gene, often after clinical evaluation.
What is the cost of the NGS genetic test for TBR1 gene intellectual disability in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
What sample is required for the TBR1 gene test?
Blood, extracted DNA, or one drop of blood on an FTA card is required.
Is fasting required for the TBR1 gene test?
No, fasting is not required.
How long does it take to get the TBR1 gene test results?
Results are typically available within 3 to 4 weeks.
What does a positive TBR1 gene test result mean?
A positive result indicates a pathogenic mutation in the TBR1 gene, confirming a genetic basis for intellectual disability.
Can TBR1 gene intellectual disability be treated?
While there is no cure, early diagnosis allows for supportive therapies and interventions to improve quality of life.
Does DNA Labs India provide raw data with the test report?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for transparency.
Is home sample collection available for the TBR1 gene test?
Yes, free home sample collection is offered for online bookings across India.
Who should consider the TBR1 gene test?
Individuals with symptoms of intellectual disability, especially with a family history, should consider testing after consulting a healthcare provider.
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.

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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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