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TP63 Gene Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 NGS Genetic Test

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TP63 Gene Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 NGS Genetic Test

Short Name: TP63 Gene NGS Test

Also known as: EEC Syndrome Type 3, TP63-Related Disorders

TP63 Gene Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 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.

PediatricsPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the TP63 Gene NGS Genetic Test is to detect mutations in the TP63 gene that cause EEC syndrome type 3, enabling definitive diagnosis, guiding clinical management, facilitating genetic counseling for families, and supporting research into genetic disorders.

Test Code
2729
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members. No fasting is required.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture from a vein in the arm, or a drop of blood is placed on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

The sample is labeled, stored at ambient room temperature, and transported to the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing. No special preparation is needed.
2
During the Test:The test involves a simple blood draw or FTA card collection, followed by DNA extraction and NGS sequencing in the lab.
3
After the Test:Results are available in 3-4 weeks and delivered via online portal, email, or WhatsApp. Genetic counseling is advised post-test.

About This Test

Who Should Get This Test

The purpose of the TP63 Gene NGS Genetic Test is to detect mutations in the TP63 gene that cause EEC syndrome type 3, enabling definitive diagnosis, guiding clinical management, facilitating genetic counseling for families, and supporting research into genetic disorders.

How to Prepare

  • Ensure the patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • For FTA cards, allow blood to dry completely before packaging

Doctor's Notes

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

"Early genetic testing for TP63 mutations is crucial for diagnosing EEC syndrome type 3, enabling timely intervention, management of symptoms, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable at room temperature for up to 24 hours
Extracted DNA: Stable at 2-8°C for several days
FTA cards: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the TP63 Gene NGS Genetic Test indicate the presence or absence of pathogenic mutations in the TP63 gene. A positive result confirms a diagnosis of EEC syndrome type 3, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of EEC syndrome type 3. Genetic counseling and multidisciplinary management are recommended.

📊

Negative for pathogenic variant

No mutations detected in the TP63 gene. Clinical correlation and additional testing may be needed if symptoms persist.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Follow-up testing and family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as missing fingers/toes, cleft lip/palate, abnormal nails/teeth, or skin/hair issues, especially with a family history of genetic disorders.

Limitations

  • May not detect all types of genetic variants, such as large deletions or duplications
  • Results require interpretation by a genetic specialist
  • Does not rule out other genetic conditions with similar symptoms

Risks & Considerations

  • Minor bruising or discomfort at the blood draw site
  • Very low risk of infection
  • Emotional impact of genetic results, requiring counseling support

Interfering Factors

  • Poor sample quality or insufficient DNA
  • Contamination during sample collection or processing
  • Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is the TP63 Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the TP63 gene to identify mutations causing Ectodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome Type 3 (EEC syndrome type 3).
Who should consider this test?
Individuals with symptoms like missing fingers/toes, cleft lip/palate, abnormal nails/teeth, or a family history of EEC syndrome should consider testing.
What is the cost of the test in India?
The cost is INR 20,000, which includes home sample collection across India.
How is the sample collected?
A blood sample is collected via venipuncture or a drop of blood on an FTA card. Home collection is available for convenience.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a mutation in the TP63 gene, indicating a diagnosis of EEC syndrome type 3. Genetic counseling is recommended.
Can this test detect all genetic variants?
While highly accurate, it may not detect all types of variants, such as large structural changes. Consult a geneticist for comprehensive evaluation.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling support to help interpret results and plan management.
What are the risks of the test?
Risks are minimal, including minor bruising from blood draw. Emotional support is available for handling results.
Is the test covered by insurance?
Coverage varies; it is not typically covered by government schemes like PMJAY. Check with private insurers for details.
How can I book the test?
You can book online through DNA Labs India's website, with free home sample collection available in multiple cities across India.
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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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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