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MMP2 Gene Multicentric osteolysis, nodulosis, and arthropathy NGS Genetic Test

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MMP2 Gene Multicentric osteolysis, nodulosis, and arthropathy NGS Genetic Test

Short Name: MMP2 Genetic Test

Also known as: Torg syndrome, MONA syndrome

MMP2 Gene Multicentric osteolysis, nodulosis, and arthropathy 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 TestPediatric and Adult🏠 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 detect mutations in the MMP2 gene for diagnosis of multicentric osteolysis, nodulosis, and arthropathy.

Test Code
5055
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 patient and genetic counseling session to draw a pedigree chart of family members affected with the disorder.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Wait for results and follow up with genetic counseling.

About This Test

Who Should Get This Test

To detect mutations in the MMP2 gene for diagnosis of multicentric osteolysis, nodulosis, and arthropathy.

How to Prepare

  • Use sterile equipment
  • Label samples correctly
  • Follow transport guidelines

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing symptoms and preventing complications in multicentric osteolysis, nodulosis, and arthropathy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 2-8°C for 72 hours
DNA: Room temperature for 1 week
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MMP2 gene.
Positive: Mutation detected, consistent with diagnosis
Negative: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Further testing recommended
⚠️ When to Consult a Doctor:

If symptoms persist or genetic test results are positive, consult a geneticist or rheumatologist for management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising at collection site
  • ●Infection risk (rare)

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection

Frequently Asked Questions

What is the MMP2 Gene Test?
It is an NGS genetic test to detect mutations in the MMP2 gene associated with multicentric osteolysis, nodulosis, and arthropathy.
Who should take this test?
Individuals with symptoms like joint pain, bony nodules, or a family history of the disorder.
How is the test performed?
Through a blood or saliva sample collected at home or a lab.
What is the cost of the test?
INR 20,000, which includes genetic counseling.
Is home sample collection available?
Yes, free home collection is available across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
It indicates a mutation in the MMP2 gene, confirming the disorder.
Is genetic counseling included?
Yes, genetic counseling is included to help interpret results.
Are there any risks associated with the test?
Minimal risks like bruising or infection from blood draw.
How accurate is the test?
NGS technology provides high accuracy, but clinical correlation is advised.
Can insurance cover the cost?
Coverage depends on insurance policy; check with your provider.
What are the symptoms of the disorder?
Symptoms include bone pain, joint stiffness, bony nodules, decreased range of motion, and short stature.
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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