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MMP14 Gene Winchester Syndrome NGS Genetic Test

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MMP14 Gene Winchester Syndrome NGS Genetic Test

MMP14 Gene Winchester Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS 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

To diagnose Winchester syndrome by identifying pathogenic mutations in the MMP14 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5169
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 Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or one drop of blood on an FTA card.

Step 3

Report Delivery

Sample is transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation, delivery, and consultation with a healthcare provider.

About This Test

Who Should Get This Test

To diagnose Winchester syndrome by identifying pathogenic mutations in the MMP14 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques during collection
  • Use provided FTA card if applicable

Doctor's Notes

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

"Genetic testing for MMP14 gene mutations is crucial for diagnosing Winchester syndrome and guiding management. Early detection can help in symptom management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Store at 2-8°C for up to 24 hours
FTA card: Store at room temperature
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MMP14 gene associated with Winchester syndrome.
📊

Pathogenic variant detected

Confirms diagnosis of Winchester syndrome; genetic counseling recommended.

📊

No pathogenic variant detected

Unlikely Winchester syndrome; consider other causes and further clinical evaluation.

⚠️ When to Consult a Doctor:

If symptoms of Winchester syndrome are present, for genetic counseling, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for result interpretation

Risks & Considerations

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

Interfering Factors

  • ●Degraded DNA sample
  • ●Sample contamination

Frequently Asked Questions

What is Winchester syndrome?
Winchester syndrome is a rare genetic disorder affecting bones and joints, caused by mutations in the MMP14 gene.
What causes Winchester syndrome?
It is caused by mutations in the MMP14 gene, leading to deficiency in matrix metalloproteinase-14 enzyme.
What are the symptoms of Winchester syndrome?
Symptoms include abnormal bone growth, joint stiffness, skeletal abnormalities, short stature, swollen joints, pain, inflammation, and developmental delays.
How is Winchester syndrome diagnosed?
Diagnosis involves clinical evaluation, imaging studies, and genetic testing such as the MMP14 Gene NGS Genetic Test.
What is the MMP14 Gene Winchester Syndrome NGS Genetic Test?
It is a genetic test using Next Generation Sequencing to detect mutations in the MMP14 gene responsible for Winchester syndrome.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is home collection available for this test?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the MMP14 gene, confirming Winchester syndrome diagnosis.
Can the test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require specialized genetic counseling and different approaches.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them directly for assistance.
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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