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COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test

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COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test

Short Name: COL2A1 AVN Genetic Test

Also known as: AVN Genetic Test, COL2A1 Mutation Analysis, Femoral Head Necrosis Genetic Test

COL2A1 Gene Avascular necrosis of the femoral head, primary 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 TestAll Ages🏠 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

To identify pathogenic mutations in the COL2A1 gene associated with avascular necrosis of the femoral head, facilitating accurate diagnosis, risk assessment, and genetic counseling for affected individuals and their families.

Test Code
4851
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

No specific preparation required. Ensure genetic counseling session is scheduled if needed.

Method: Venipuncture or Saliva

Step 2

Laboratory Analysis

Sample collected via venipuncture for blood or saliva kit for non-invasive option. Follow standard phlebotomy procedures.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions before transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand test implications. No fasting required.
2
During the Test:Simple blood draw or saliva collection. Procedure takes about 10-15 minutes.
3
After the Test:Resume normal activities. Results will be available in 3-4 weeks via online portal or email.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the COL2A1 gene associated with avascular necrosis of the femoral head, facilitating accurate diagnosis, risk assessment, and genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile collection tubes or FTA cards as specified
  • Label samples accurately with patient details
  • Maintain ambient room temperature during transport
  • Avoid hemolysis in blood samples

Doctor's Notes

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

"Genetic testing for COL2A1 mutations can aid in early diagnosis and personalized management of avascular necrosis, particularly for individuals with a family history of skeletal disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerFTA Card or EDTA Tube
Collection MethodVenipuncture or Saliva

Sample Stability

Blood samples: Stable for 7 days at room temperature
FTA cards: Stable for years if stored properly
Extracted DNA: Stable for long-term storage at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Improper labeling or documentation
  • Samples stored outside recommended conditions

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL2A1 gene. A positive result suggests increased genetic risk for avascular necrosis, while a negative result indicates no known mutations detected.
Positive Result: Pathogenic mutation detected; recommend clinical correlation, monitoring, and genetic counseling for family members.
Negative Result: No pathogenic variant found; does not rule out other causes of AVN; consider further clinical evaluation.
Variant of Uncertain Significance (VUS): Mutation detected but clinical significance unknown; may require additional testing or follow-up.
⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic counselor if you have a positive result, family history of AVN, or persistent symptoms like hip pain or mobility issues. Early intervention can help manage the condition effectively.

Limitations

  • ⚠May not detect all possible mutations in the COL2A1 gene
  • ⚠Results should be interpreted in conjunction with clinical history and other diagnostic tests
  • ⚠Genetic testing cannot predict disease onset or severity with absolute certainty
  • ⚠Limited to known pathogenic variants; novel mutations may not be identified

Risks & Considerations

  • ●Minimal risk from blood draw: slight pain, bruising, or infection at puncture site
  • ●No significant risks from saliva collection
  • ●Psychological impact of genetic results; counseling support available

Interfering Factors

  • ●Sample contamination during collection or storage
  • ●Improper sample handling or storage conditions
  • ●Recent blood transfusions may affect DNA analysis
  • ●Degraded DNA due to delayed processing

Frequently Asked Questions

What is the COL2A1 gene?
The COL2A1 gene provides instructions for making type II collagen, a protein crucial for cartilage and bone structure. Mutations in this gene can lead to skeletal disorders like avascular necrosis.
How is the COL2A1 genetic test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze DNA from a blood or saliva sample for specific mutations in the COL2A1 gene.
What are the symptoms of avascular necrosis of the femoral head?
Symptoms include hip or groin pain, limping, stiffness, and decreased range of motion in the hip joint, which may worsen over time.
Who should consider getting this genetic test?
Individuals with a family history of AVN or skeletal disorders, those with unexplained hip pain, or people seeking genetic counseling for family planning.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the COL2A1 gene, increasing the risk for avascular necrosis. It warrants clinical evaluation and genetic counseling.
Is the genetic test painful?
The test involves a simple blood draw or saliva collection, which may cause minimal discomfort, but it is generally not painful.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
What is the cost of the COL2A1 genetic test?
The test costs INR 20000, with a special discounted price available for online bookings, including home collection.
Is this genetic test covered by insurance?
Coverage depends on your insurance plan. It is not typically covered under government schemes like PMJAY or CGHS; check with your provider.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, but genetic counseling is recommended for minors to understand implications.
What are the risks associated with this genetic test?
Risks are minimal, including slight discomfort from blood draw. Psychological impact of results is possible, so counseling support is provided.
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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