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COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic Test

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COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic Test

Short Name: COL2A1 Epiphyseal Dysplasia NGS Test

Also known as: Multiple Epiphyseal Dysplasia with Myopia and Deafness Genetic Test, COL2A1-related EDMD Test

COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness 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.

PediatricsPediatric🏠 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

The purpose of this test is to detect mutations in the COL2A1 gene that cause epiphyseal dysplasia with myopia and deafness. It helps in confirming diagnosis, assessing carrier status, and guiding clinical management and genetic counseling.

Test Code
2731
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

No special preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or FTA card spot.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test and implications.
2
During the Test:The test involves DNA extraction and NGS analysis in the lab.
3
After the Test:Results will be available in 3-4 weeks. Follow-up with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the COL2A1 gene that cause epiphyseal dysplasia with myopia and deafness. It helps in confirming diagnosis, assessing carrier status, and guiding clinical management and genetic counseling.

How to Prepare

  • Fast for 8-12 hours if specified, but not required for this test
  • Bring identification and doctor's prescription
  • Inform about any medications

Doctor's Notes

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

"This NGS test is essential for confirming diagnosis in patients with suspected COL2A1-related disorders, enabling targeted 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
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood sample: stable for 48 hours at room temperature
FTA card: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL2A1 gene.
Positive result: Mutation detected, consistent with diagnosis
Negative result: No mutation found, but clinical correlation needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if results are positive or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible anxiety from results
  • ●Genetic discrimination concerns

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestCOL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonCOL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic Test

Frequently Asked Questions

What is the COL2A1 Gene Epiphyseal Dysplasia NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the COL2A1 gene, which causes epiphyseal dysplasia with myopia and deafness.
Who should take this test?
Individuals with symptoms like short stature, skeletal abnormalities, myopia, and deafness, or those with a family history of the disorder.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to identify mutations in the COL2A1 gene.
What is the cost of the test?
The test costs INR 20000.0, including home sample collection across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants are detected in the COL2A1 gene, aiding in diagnosis and management.
Is the test accurate?
Yes, NGS technology provides high accuracy, but results should be interpreted by a healthcare professional.
Are there any risks?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
Can insurance cover the test?
Coverage depends on the insurance provider; check with your insurer for details.
What is the difference between this test and other genetic tests?
This test specifically targets the COL2A1 gene, while others like whole exome sequencing analyze multiple genes.
How to prepare for the test?
No special preparation is needed, but provide clinical history and attend a genetic counseling session if recommended.
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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