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TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic Test

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TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic Test

Short Name: TP63 AEC Syndrome NGS Test

Also known as: AEC syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the TP63 gene to confirm a diagnosis of Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, aiding in clinical management, genetic counseling, and family planning.

Test Code
5650
Price
₹20,000
Sample Type
Blood, 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 is required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A standard blood draw will be performed by a trained phlebotomist. For FTA card collection, a small blood drop is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree during genetic counseling. No fasting required.
2
During the Test:Sample collection via blood draw or FTA card; procedure is minimally invasive.
3
After the Test:Results will be available in 3 to 4 weeks. Follow up with your healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TP63 gene to confirm a diagnosis of Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure the patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for AEC syndrome is crucial for timely management, symptom alleviation, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Stable for 48 hours at room temperature
Extracted DNA: Stable for several days when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the TP63 gene NGS test indicate the presence or absence of pathogenic mutations. A positive result confirms AEC syndrome, while a negative result may require further testing if clinical suspicion remains high.
Positive: Pathogenic variant detected in TP63 gene, confirming AEC syndrome diagnosis.
Negative: No pathogenic variants detected; consider other genetic causes or clinical evaluation.
Variant of Uncertain Significance (VUS): Genetic change found but not clearly linked to disease; genetic counseling recommended.
⚠️ When to Consult a Doctor:

Consult a genetic counselor or healthcare provider immediately after receiving results to discuss implications, management options, and family planning.

Limitations

  • ⚠May not detect all types of TP63 gene mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic counselor or healthcare provider
  • ⚠Does not rule out other genetic conditions with similar symptoms

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is AEC syndrome?
AEC syndrome is a rare genetic disorder affecting ectodermal tissues, caused by mutations in the TP63 gene, leading to symptoms like fused eyelids, skin abnormalities, and cleft lip/palate.
What causes AEC syndrome?
AEC syndrome is caused by mutations in the TP63 gene, which is essential for the development and maintenance of ectodermal tissues such as skin, hair, nails, and teeth.
What are the common symptoms of AEC syndrome?
Common symptoms include ankyloblepharon (fused eyelids), ectodermal defects (abnormal skin, hair, nails, teeth), cleft lip and/or palate, delayed growth, recurrent infections, and hearing loss.
How is AEC syndrome diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next-Generation Sequencing (NGS) of the TP63 gene, to identify pathogenic mutations.
What is the cost of the TP63 gene NGS test?
The cost of the TP63 gene NGS genetic test at DNA Labs India is INR 20,000, 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 the TP63 gene NGS test in numerous cities across India.
What sample types are accepted for this test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What should I do if the test result is positive?
A positive result confirms AEC syndrome. Consult a genetic counselor or healthcare provider to discuss management, treatment options, and family planning.
Can this test detect all mutations in the TP63 gene?
While NGS is highly accurate, it may not detect all types of mutations, such as large deletions or duplications. Genetic counseling is recommended for comprehensive evaluation.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is strongly recommended before testing to understand implications and after results to guide decision-making and support.
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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