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TBX1 Gene DiGeorge syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TBX1 Gene DiGeorge syndrome NGS Genetic Test

Short Name: TBX1 Gene DiGeorge NGS Test

Also known as: 22q11.2 deletion syndrome, Velocardiofacial syndrome

TBX1 Gene DiGeorge syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Pediatrics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect deletions or mutations in the TBX1 gene associated with DiGeorge syndrome for accurate diagnosis and management.

Test Code
2723
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample as per instructions.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended. Provide detailed clinical and family history.
2
During the Test:Sample collection as per standard procedures. Minimal discomfort.
3
After the Test:Wait for results. Genetic counseling post-test to discuss findings.

About This Test

Who Should Get This Test

To detect deletions or mutations in the TBX1 gene associated with DiGeorge syndrome for accurate diagnosis and management.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for sample collection
  • Label samples correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for DiGeorge syndrome can guide management and improve outcomes through timely interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

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 clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of TBX1 gene deletions or mutations. Positive results confirm DiGeorge syndrome, while negative results may require further testing if clinical suspicion remains.
Positive result: Deletion or mutation detected, consistent with DiGeorge syndrome
Negative result: No deletion detected, but does not rule out other genetic conditions
Variant of uncertain significance: May require additional family studies or clinical correlation
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist immediately if test is positive or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Hemolyzed or degraded DNA samples

Compare With Similar Tests

TestTBX1 Gene DiGeorge syndrome NGS Genetic TestFISH for 22q11.2 deletionChromosomal Microarray AnalysisSanger Sequencing
ComparisonTBX1 Gene DiGeorge syndrome NGS Genetic Test

Frequently Asked Questions

What is DiGeorge syndrome?
DiGeorge syndrome is a genetic disorder caused by a deletion on chromosome 22, affecting development of multiple organs, leading to symptoms like heart defects and immune issues.
What is the TBX1 gene?
The TBX1 gene is located on chromosome 22 and is crucial for the development of the heart, thymus, and parathyroid glands. Deletions in this gene are associated with DiGeorge syndrome.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood or saliva sample, detecting deletions or mutations in the TBX1 gene with high accuracy.
What is the cost of the TBX1 Gene DiGeorge syndrome NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of DiGeorge syndrome?
Symptoms include heart defects, immune system problems, cleft palate, hearing loss, low calcium levels, and developmental delays.
Can this test detect all cases of DiGeorge syndrome?
The NGS test is highly accurate for detecting TBX1 gene deletions, but some cases may involve other genetic mechanisms requiring additional testing.
Is genetic counseling necessary before and after the test?
Yes, genetic counseling is recommended to understand the test implications, interpret results, and guide management.
What should I do if the test result is positive?
Consult a geneticist or specialist immediately for further evaluation, management, and support.
Are there any risks associated with the genetic test?
The test involves minimal risks from sample collection, such as bruising. Psychological impacts may occur, so counseling is advised.
How accurate is the NGS genetic test for DiGeorge syndrome?
NGS testing is highly accurate for detecting TBX1 gene deletions, with sensitivity and specificity exceeding 99% for known variants.
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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