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MATN3 Gene Spondyloepimetaphyseal dysplasia, MATN3 related NGS Genetic Test

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MATN3 Gene Spondyloepimetaphyseal dysplasia, MATN3 related NGS Genetic Test

Short Name: MATN3 SEMD NGS Test

Also known as: SEMD-MATN3, Spondyloepimetaphyseal dysplasia with matrilin-3 deficiency

MATN3 Gene Spondyloepimetaphyseal dysplasia, MATN3 related 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Spondyloepimetaphyseal dysplasia related to MATN3 gene mutations using NGS technology for accurate identification and management guidance.

Test Code
5139
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 family members affected with SEMD.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Sample collected via blood draw or saliva; minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising; keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw family pedigree.
2
During the Test:Sample collection (blood or saliva) for DNA extraction and NGS analysis.
3
After the Test:Results delivered in 3-4 weeks; follow-up counseling recommended.

About This Test

Who Should Get This Test

To diagnose Spondyloepimetaphyseal dysplasia related to MATN3 gene mutations using NGS technology for accurate identification and management guidance.

How to Prepare

  • Provide detailed clinical history and family pedigree during genetic counseling.
  • Ensure sample is collected in a sterile environment.
  • Label the sample correctly with patient details.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for MATN3 mutations can guide management and family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or saliva collection

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MATN3 gene. Consult a genetic counselor for detailed interpretation.
Normal result: No pathogenic variants detected; clinical correlation may be needed.
Abnormal result: Pathogenic variant(s) identified; confirms diagnosis of SEMD-MATN3.
Variant of uncertain significance: Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

If symptoms of SEMD are present, such as short stature, spinal abnormalities, or joint issues, or if there is a family history of the disorder.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Risk of infection (very low with proper technique)

Frequently Asked Questions

What is the MATN3 Gene NGS Genetic Test?
It is a diagnostic test that uses next-generation sequencing to identify mutations in the MATN3 gene, associated with spondyloepimetaphyseal dysplasia.
Who should consider this test?
Individuals with symptoms of SEMD, such as short stature, spinal abnormalities, or joint issues, and those with a family history of the disorder.
How is the test performed?
A small sample of blood or saliva is collected and analyzed using NGS technology to detect MATN3 gene mutations.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate the presence or absence of pathogenic variants in the MATN3 gene. A genetic counselor can help interpret the findings.
Is there a cure for SEMD-MATN3?
Currently, there is no cure. Treatment focuses on managing symptoms and improving quality of life through therapies and surgeries.
What are the treatment options?
Treatment may include physical therapy, pain management medications, and surgical interventions to correct deformities.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but consultation with a genetic specialist is recommended.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss test implications and draw a family pedigree.
How accurate is the NGS technology?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted in the context of clinical findings.
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

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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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