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COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test

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COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test

Short Name: COL2A1 Osteoarthritis NGS Test

Also known as: COL2A1-related osteoarthritis with mild chondrodysplasia, COL2A1 gene test for joint disorders

COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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

The purpose of this test is to detect pathogenic variants in the COL2A1 gene that cause osteoarthritis with mild chondrodysplasia, aiding in diagnosis, prognosis, and family planning.

Test Code
5080
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 (Next Generation Sequencing)
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart of affected family members. No fasting required.

Method: Venipuncture or blood spot on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to lab under ambient room temperature. Apply pressure to puncture site to prevent bruising.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment recommended.
2
During the Test:Blood sample collection and NGS analysis performed in lab.
3
After the Test:Report generation and delivery via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the COL2A1 gene that cause osteoarthritis with mild chondrodysplasia, aiding in diagnosis, prognosis, and family planning.

How to Prepare

  • Ensure patient identification
  • Use sterile equipment
  • Collect blood in EDTA tube or on FTA card
  • Label sample correctly
  • Transport at room temperature

Doctor's Notes

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

"Early genetic testing for COL2A1 mutations can help in timely management of hereditary osteoarthritis and chondrodysplasia, improving patient outcomes."

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 or blood spot on FTA card

Sample Stability

Blood in EDTA tube
Blood on FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL2A1 gene. Positive results confirm genetic predisposition, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of COL2A1-related osteoarthritis with mild chondrodysplasia. Recommend genetic counseling and management plan.

📊

Negative for pathogenic variant

No mutations detected in COL2A1 gene. Consider other genetic or non-genetic causes if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms like joint pain, stiffness, or skeletal abnormalities are present, or if family history suggests hereditary conditions.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Limited to COL2A1 gene analysis only

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Incorrect sample storage

Compare With Similar Tests

TestCOL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic TestCOL2A1 Gene SequencingOsteoarthritis Panel TestChondrodysplasia Genetic Test
ComparisonCOL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test

Frequently Asked Questions

What is the COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to identify mutations in the COL2A1 gene associated with hereditary osteoarthritis and mild chondrodysplasia.
Who should consider this test?
Individuals with symptoms like joint pain, stiffness, short stature, or a family history of similar conditions should consider this test.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture or a blood drop on an FTA card by a trained professional.
Is fasting required before the test?
No, fasting is not required for this genetic test.
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?
Positive results indicate a genetic mutation linked to the condition, while negative results suggest no mutations in the COL2A1 gene.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and family planning.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising. Psychological impacts of results should be considered.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What if the test shows a variant of uncertain significance?
Further testing or family studies may be needed, and consultation with a geneticist is recommended.
Is the test covered by insurance?
Coverage depends on the insurance policy; it is not typically covered under government schemes like PMJAY or CGHS.
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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