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TP63 Gene Limb-mammary syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TP63 Gene Limb-mammary syndrome NGS Genetic Test

Short Name: TP63 LMS NGS Test

Also known as: Limb-mammary syndrome, LMS, TP63-related limb-mammary syndrome

TP63 Gene Limb-mammary syndrome 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 this test is to diagnose TP63 gene limb-mammary syndrome by detecting mutations in the TP63 gene using next-generation sequencing. It helps confirm or rule out the condition, guide medical management, and provide information for genetic counseling.

Test Code
2758
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

No specific preparation required. Ensure clinical history and genetic counseling are completed.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete genetic counseling and provide clinical history. No fasting required.
2
During the Test:Blood sample collection takes a few minutes. The sample is sent to the lab for NGS analysis.
3
After the Test:Resume normal activities. Monitor the puncture site for any issues. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose TP63 gene limb-mammary syndrome by detecting mutations in the TP63 gene using next-generation sequencing. It helps confirm or rule out the condition, guide medical management, and provide information for genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature
  • Avoid hemolysis by gentle handling

Doctor's Notes

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

"Early genetic diagnosis of TP63 gene limb-mammary syndrome is crucial for managing symptoms and providing family counseling. This NGS test offers high accuracy for mutation detection."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TP63 gene. A positive result confirms TP63 gene limb-mammary syndrome, while a negative result suggests no mutation detected, but clinical correlation is needed.
📊

Positive for TP63 mutation

Confirms diagnosis of limb-mammary syndrome. Genetic counseling and medical management recommended.

📊

Negative for TP63 mutation

No pathogenic variant detected. Consider other genetic tests if clinical suspicion remains high.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms suggestive of limb-mammary syndrome are present, or if family history indicates risk. After testing, discuss results with a healthcare provider for appropriate management.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Results require interpretation by a genetic specialist
  • Does not assess for other genetic conditions unless specified

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results; counseling recommended

Interfering Factors

  • Sample contamination during collection or processing
  • Degraded DNA due to improper storage or handling
  • Presence of inhibitors in the sample affecting sequencing

Compare With Similar Tests

TestTP63 Gene Limb-mammary syndrome NGS Genetic TestTP63 Gene Sequencing TestLimb-Mammary Syndrome PanelDysmorphology Genetic Panel
ComparisonTP63 Gene Limb-mammary syndrome NGS Genetic Test

Frequently Asked Questions

What is TP63 gene limb-mammary syndrome?
It is a rare genetic disorder caused by mutations in the TP63 gene, leading to abnormalities in limb development and mammary glands.
What are the common symptoms of this syndrome?
Symptoms include missing or malformed fingers or toes, underdeveloped or absent mammary glands, nail abnormalities, dental issues, and skin pigmentation changes.
How is the syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS test offered by DNA Labs India, which detects TP63 gene mutations.
What does the NGS genetic test involve?
The test analyzes DNA from a blood sample using next-generation sequencing to identify mutations in the TP63 gene.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What should I do before the test?
Complete genetic counseling and provide clinical history. No fasting is required.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. Genetic counseling is recommended to address psychological impacts.
What do the results mean?
A positive result confirms TP63 mutation, while a negative result suggests no mutation detected. Interpretation should be done by a genetic specialist.
Can the test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. Prenatal testing may require different methods; consult a genetic counselor.
How can I get genetic counseling?
DNA Labs India provides genetic counseling as part of the test. Contact them to schedule a session before or after testing.
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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