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TFAP2A Gene Branchiooculofacial syndrome NGS Genetic Test

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TFAP2A Gene Branchiooculofacial syndrome NGS Genetic Test

Short Name: TFAP2A Gene BOFS NGS Test

Also known as: Branchiooculofacial Syndrome, BOFS, TFAP2A-related syndrome

TFAP2A Gene Branchiooculofacial syndrome 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect mutations in the TFAP2A gene for accurate diagnosis of Branchiooculofacial Syndrome, enabling early intervention and genetic counseling.

Test Code
5688
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be processed for DNA extraction and analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications, provide informed consent, and discuss family history.
2
During the Test:Sample collection and processing as per standard laboratory protocols for NGS.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the TFAP2A gene for accurate diagnosis of Branchiooculofacial Syndrome, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for TFAP2A mutations can guide management, inform family planning, and improve outcomes for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TFAP2A gene.
📊

Positive for pathogenic variant

Confirms diagnosis of Branchiooculofacial Syndrome. Genetic counseling and multidisciplinary care recommended.

📊

Negative

No pathogenic variants detected in the TFAP2A gene. Clinical correlation and further evaluation may be needed.

📊

Variant of uncertain significance

Further testing, family studies, or clinical follow-up required for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as cleft lip, eye abnormalities, or kidney issues are present, or if there is a family history of Branchiooculofacial Syndrome, consult a geneticist or pediatrician.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of test results
  • ●Potential for uncertain or unexpected findings

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Insufficient DNA quantity

Compare With Similar Tests

TestTFAP2A Gene Branchiooculofacial syndrome NGS Genetic TestWhole Exome SequencingSanger SequencingChromosomal Microarray
ComparisonTFAP2A Gene Branchiooculofacial syndrome NGS Genetic Test

Frequently Asked Questions

What is TFAP2A Gene Branchiooculofacial Syndrome?
It is a rare genetic disorder caused by mutations in the TFAP2A gene, affecting development of facial features, eyes, ears, and kidneys.
What are the common symptoms of this syndrome?
Symptoms include cleft lip/palate, microphthalmia, abnormally shaped ears, kidney abnormalities, and facial asymmetry.
How is the TFAP2A Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the TFAP2A gene from a blood or DNA sample for mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available for this test?
Yes, free home sample collection is available across India for online bookings.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive test result indicate?
A positive result confirms a diagnosis of Branchiooculofacial Syndrome, guiding medical management and genetic counseling.
Can this test be used for prenatal diagnosis?
Consult a geneticist; prenatal testing may be possible but requires specialized procedures.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand implications, interpret results, and plan care.
What are the limitations of the NGS Genetic Test?
Limitations include potential to miss certain mutation types and the need for clinical correlation.
How accurate is Next-Generation Sequencing for detecting TFAP2A mutations?
NGS is highly accurate for detecting point mutations and small indels in the TFAP2A gene.
In which cities is the test available?
The test is available in major cities across India, including Mumbai, Delhi, Bangalore, and many more, with home collection services.
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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