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TFAP2B Gene Char syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TFAP2B Gene Char syndrome NGS Genetic Test

Short Name: Char Syndrome NGS Test

Also known as: Char Syndrome, TFAP2B-related disorder, Char syndrome type 1

TFAP2B Gene Char 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.

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 Char Syndrome by detecting mutations in the TFAP2B gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5710
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

Clinical history review and genetic counseling session to draw a pedigree chart.

Method: Blood draw or DNA extraction

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or saliva sample.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess indications.
2
During the Test:Sample collection and laboratory processing for NGS analysis.
3
After the Test:Report generation, delivery, and follow-up consultation.

About This Test

Who Should Get This Test

To diagnose Char Syndrome by detecting mutations in the TFAP2B gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure proper sample labeling

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 Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Test results indicate the presence or absence of pathogenic variants in the TFAP2B gene.
📊

Positive

Pathogenic variant detected, confirming diagnosis of Char Syndrome. Genetic counseling recommended.

📊

Negative

No pathogenic variant detected. Clinical correlation and further testing may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of Char Syndrome are present, such as facial abnormalities or ear anomalies, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation
  • ⚠Results should be interpreted by a genetic counselor

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results

Interfering Factors

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

Frequently Asked Questions

What is TFAP2B Gene Char Syndrome?
Char Syndrome is a rare genetic disorder caused by mutations in the TFAP2B gene, leading to developmental issues in the face, ears, and neck.
What are the common symptoms of Char Syndrome?
Symptoms include small or absent earlobes, cleft palate, small jaw, low-set ears, short neck, and facial asymmetry.
How is Char Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS of the TFAP2B gene, using blood or saliva samples.
What is the cost of the TFAP2B Gene Char Syndrome NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered across India for online bookings.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the TFAP2B gene, confirming Char Syndrome diagnosis.
Can the test detect all mutations in the TFAP2B gene?
NGS is comprehensive but may not detect all variants; clinical correlation is advised.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
How accurate is the NGS genetic test for Char Syndrome?
NGS is highly accurate for detecting genetic variants, but results should be interpreted by a genetic counselor.
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

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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.

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