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COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic Test

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COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic Test

Short Name: COMP Gene Epiphyseal Dysplasia Type 1 Test

Also known as: Multiple Epiphyseal Dysplasia Type 1, MED Type 1, COMP Gene Mutation Test

COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 identify mutations in the COMP gene for accurate diagnosis of epiphyseal dysplasia, multiple, type 1, aiding in clinical management and genetic counseling.

Test Code
2404
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart of family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of one drop blood on FTA card.

Step 3

Report Delivery

Sample labeled, stored at ambient room temperature, and sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session required to discuss family history and draw a pedigree chart.
2
During the Test:DNA extraction and sequencing using NGS technology to analyze the COMP gene.
3
After the Test:Report generated within 3 to 4 weeks, delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To identify mutations in the COMP gene for accurate diagnosis of epiphyseal dysplasia, multiple, type 1, aiding in clinical management and genetic counseling.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample integrity during collection

Doctor's Notes

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

"Genetic testing for COMP gene mutations is crucial for confirming diagnosis and guiding management of epiphyseal dysplasia type 1, especially in families with a history of bone disorders."

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

Understanding Your Results

Results indicate the presence or absence of mutations in the COMP gene associated with epiphyseal dysplasia type 1.
📊

Confirms diagnosis of epiphyseal dysplasia type 1; genetic counseling recommended.

📊

Reduces likelihood of COMP gene-related disorder; consider other causes.

📊

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as joint pain, abnormal bone growth, or family history of skeletal disorders persist, consult a healthcare provider for evaluation and genetic testing.

Limitations

  • ⚠May not detect all genetic variants or novel mutations
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection

Frequently Asked Questions

What is the COMP Gene Epiphyseal Dysplasia Type 1 NGS Genetic Test?
It is a genetic test using Next-Generation Sequencing to identify mutations in the COMP gene associated with epiphyseal dysplasia type 1, a rare bone disorder.
What are the symptoms of epiphyseal dysplasia type 1?
Symptoms include short stature, abnormal spine curvature, joint pain, stiffness, enlarged joints, flat feet, and gait abnormalities.
How is the test performed?
A blood sample or extracted DNA is collected, often via venipuncture or FTA card, and analyzed using NGS technology.
What is the cost of this genetic test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for this genetic test.
Can this test be done at home?
Yes, free home sample collection is available for online bookings across many cities in India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the COMP gene, confirming diagnosis of epiphyseal dysplasia type 1.
Is genetic counseling necessary before testing?
Yes, a genetic counseling session is required to review clinical history and draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
Is this test covered by insurance?
Coverage varies; check with your insurance provider or schemes like PMJAY, CGHS, etc.
How can I book this test?
You can book online through DNA Labs India's website or contact them via phone for sample collection and 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.

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✓ 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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