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TP63 Gene Rapp-Hodgkin syndrome NGS Genetic Test

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TP63 Gene Rapp-Hodgkin syndrome NGS Genetic Test

Short Name: TP63 Gene Rapp-Hodgkin Syndrome Test

Also known as: Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome (AEC)

TP63 Gene Rapp-Hodgkin 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.

Genetic TestAll Ages🏠 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

The purpose of the TP63 Gene Rapp-Hodgkin Syndrome NGS Genetic Test is to identify mutations in the TP63 gene that cause Rapp-Hodgkin syndrome. This test aids in accurate diagnosis, genetic counseling, family planning, and personalized management of the condition.

Test Code
2793
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 of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Rapp-Hodgkin syndrome.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Sample collection via venipuncture or finger prick for blood on FTA card.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology. Report is generated after 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:The test involves next-generation sequencing of the TP63 gene from a blood or DNA sample.
3
After the Test:Results are available in 3-4 weeks. Genetic counseling is provided to discuss findings.

About This Test

Who Should Get This Test

The purpose of the TP63 Gene Rapp-Hodgkin Syndrome NGS Genetic Test is to identify mutations in the TP63 gene that cause Rapp-Hodgkin syndrome. This test aids in accurate diagnosis, genetic counseling, family planning, and personalized management of the condition.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and air dry
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for TP63 gene mutations is essential for confirming Rapp-Hodgkin syndrome diagnosis, which can guide treatment and family planning."

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 or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

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

Understanding Your Results

The results of the TP63 Gene NGS Genetic Test indicate whether pathogenic mutations are present in the TP63 gene.
Positive result: Pathogenic mutation detected, confirming diagnosis of Rapp-Hodgkin syndrome.
Negative result: No pathogenic mutation detected, but clinical symptoms may warrant further testing.
Variant of uncertain significance (VUS): Mutation found but not conclusively linked to disease; requires follow-up.
⚠️ When to Consult a Doctor:

If you or your child exhibit symptoms such as cleft palate, eyelid fusion, or other ectodermal abnormalities, or if there is a family history of Rapp-Hodgkin syndrome, consult a geneticist or pediatrician for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not predict disease severity or progression

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of incidental findings

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Rapp-Hodgkin syndrome?
Rapp-Hodgkin syndrome is a rare genetic disorder caused by mutations in the TP63 gene, leading to abnormalities in ectodermal tissues such as skin, hair, nails, teeth, and sweat glands.
What are the symptoms of Rapp-Hodgkin syndrome?
Symptoms include cleft palate or lip, ankyloblepharon (fusion of eyelids), tooth abnormalities, hair and nail defects, sweat gland issues, short stature, intellectual disability, and hearing loss.
How is Rapp-Hodgkin syndrome diagnosed?
Diagnosis is based on clinical symptoms and genetic testing to identify mutations in the TP63 gene using next-generation sequencing (NGS).
What is the cost of the TP63 Gene NGS Genetic Test at DNA Labs India?
The cost is INR 20000, which includes sample collection, analysis, genetic counseling, and report delivery.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for the TP63 Gene NGS Genetic Test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the TP63 gene, confirming a diagnosis of Rapp-Hodgkin syndrome.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options.
What is the accuracy of the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted in the context of clinical findings.
Do I need genetic counseling before and after the test?
Yes, genetic counseling is recommended to understand the test implications, interpret results, and discuss management options.
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.

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✓ 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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