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MATN3 Gene Epiphyseal dysplasia, multiple, type 5 NGS Genetic Test

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MATN3 Gene Epiphyseal dysplasia, multiple, type 5 NGS Genetic Test

Short Name: MATN3 NGS Genetic Test

Also known as: MED5, Multiple Epiphyseal Dysplasia Type 5, MATN3-Related Skeletal Dysplasia

MATN3 Gene Epiphyseal dysplasia, multiple, type 5 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the MATN3 Gene NGS Genetic Test is to accurately diagnose Epiphyseal Dysplasia, Multiple, Type 5 by identifying mutations in the MATN3 gene. This helps in confirming the condition, guiding treatment strategies, assessing recurrence risks for family members, and supporting genetic counseling for affected individuals and their families.

Test Code
2408
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

A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members are recommended prior to sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure by a trained phlebotomist using aseptic techniques. Alternatively, a drop of blood can be collected on an FTA card.

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:Schedule a genetic counseling session to discuss the test, its implications, and provide informed consent.
2
During the Test:A blood sample will be collected via venipuncture or finger-prick for FTA card; the procedure takes approximately 10-15 minutes.
3
After the Test:Results are delivered in 3-4 weeks via online portal, email, or WhatsApp. Follow-up consultation recommended.

About This Test

Who Should Get This Test

The purpose of the MATN3 Gene NGS Genetic Test is to accurately diagnose Epiphyseal Dysplasia, Multiple, Type 5 by identifying mutations in the MATN3 gene. This helps in confirming the condition, guiding treatment strategies, assessing recurrence risks for family members, and supporting genetic counseling for affected individuals and their families.

How to Prepare

  • Use EDTA tube for blood samples
  • For FTA cards, ensure one drop of blood is applied and dried
  • Label sample with patient details and date
  • Store at room temperature (20-25°C) until shipment
  • Avoid freezing or excessive heat exposure

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for MATN3 mutations is essential for accurate diagnosis, management, and family planning in Epiphyseal Dysplasia Type 5."

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 blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube: stable for 72 hours at room temperature
FTA card: stable for several weeks at room temperature when properly dried
Extracted DNA: stable for months if stored at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume (less than 2 mL blood)
  • Improperly labeled or contaminated samples
  • Samples collected after blood transfusion within 3 months

Understanding Your Results

The results of the MATN3 Gene NGS Genetic Test indicate whether pathogenic mutations are present in the MATN3 gene, which are associated with Epiphyseal Dysplasia, Multiple, Type 5.
Positive result: Pathogenic variant detected – confirms diagnosis of MED5, requires clinical management and genetic counseling.
Negative result: No pathogenic variants detected – does not entirely rule out other genetic causes; consider clinical correlation.
Variant of uncertain significance: Further testing or family studies may be needed for clarification.
Likely pathogenic: Strong indication of disease association; recommend follow-up with healthcare provider.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as persistent joint pain, short stature, or spinal abnormalities, especially with a family history of skeletal disorders. Genetic counseling is advised for result interpretation and family planning.

Limitations

  • ⚠Cannot detect all possible genetic variants in the MATN3 gene
  • ⚠Results may require confirmatory testing via Sanger sequencing
  • ⚠Does not predict disease severity or progression
  • ⚠Limited to known pathogenic variants in current databases

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection at the puncture site
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Improper storage conditions affecting DNA integrity
  • ●Hemolyzed or lipemic blood samples
  • ●Previous blood transfusions within the last 3 months

Frequently Asked Questions

What is the MATN3 Gene Epiphyseal Dysplasia Test?
It is an NGS-based genetic test that analyzes the MATN3 gene for mutations causing Epiphyseal Dysplasia, Multiple, Type 5, a rare skeletal disorder.
Who should consider taking this test?
Individuals with symptoms like short stature, joint pain, spinal curvature, or a family history of similar conditions, as recommended by a healthcare provider.
What are the common symptoms of Epiphyseal Dysplasia Type 5?
Symptoms include short stature, abnormal spinal curvature, joint pain and stiffness, restricted joint movement, early-onset osteoarthritis, and foot deformities.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using Next-Generation Sequencing (NGS) technology to detect mutations in the MATN3 gene.
What is the cost of the test in India?
The cost is INR 20,000, which includes sample collection, genetic counseling, and report generation, with free home collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from 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 confirms the presence of pathogenic MATN3 mutations, indicating Epiphyseal Dysplasia Type 5, and requires clinical management.
Can this test be used for family planning?
Yes, genetic counseling based on test results can help assess recurrence risks and guide family planning decisions.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as minor bruising or infection, with no significant genetic risks.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting known pathogenic variants, but results should be interpreted alongside clinical findings.
What should I do after receiving the test results?
Consult a healthcare professional or genetic counselor to understand the implications, discuss treatment options, and plan next steps.
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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