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COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic Test

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COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic Test

COL2A1 Gene Legg-Calve-Perthes disease 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 mutations in the COL2A1 gene associated with Legg-Calve-Perthes disease for accurate diagnosis, genetic counseling, and personalized treatment planning.

Test Code
5046
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Blood draw or Saliva collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva, performed by a trained professional.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history to assess indications for testing.
2
During the Test:Non-invasive sample collection (blood or saliva) and processing for NGS analysis.
3
After the Test:Report generation, delivery via online portal, email, or WhatsApp, followed by consultation with a genetic specialist.

About This Test

Who Should Get This Test

To identify mutations in the COL2A1 gene associated with Legg-Calve-Perthes disease for accurate diagnosis, genetic counseling, and personalized treatment planning.

How to Prepare

  • Avoid eating or drinking for 30 minutes before saliva collection if applicable
  • Follow sterile procedures for blood draw
  • Ensure proper labeling of samples

Doctor's Notes

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

"This test aids in early diagnosis and management of Legg-Calve-Perthes disease, particularly for families with a history, enabling timely intervention and genetic counseling."

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

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Contaminated or improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL2A1 gene, which may be associated with Legg-Calve-Perthes disease.
📊

Positive for pathogenic mutation

Increased risk for Legg-Calve-Perthes disease; recommend clinical evaluation, monitoring, and genetic counseling for family members.

📊

Negative for pathogenic mutation

No pathogenic variants detected in the COL2A1 gene; clinical correlation advised as other genetic or environmental factors may be involved.

⚠️ When to Consult a Doctor:

If symptoms such as hip pain, limping, or stiffness persist, or if there is a family history of Legg-Calve-Perthes disease, consult a healthcare provider for further evaluation.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other causes of hip disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Privacy concerns regarding genetic data

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Improper sample collection or storage

Frequently Asked Questions

What is Legg-Calve-Perthes disease?
Legg-Calve-Perthes disease is a rare childhood condition where blood supply to the femoral head (thigh bone) is disrupted, leading to bone death and hip joint deformity.
What is the COL2A1 gene and its role?
The COL2A1 gene produces type II collagen, a key protein in cartilage and bone. Mutations can affect bone integrity and may be linked to Legg-Calve-Perthes disease.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze the COL2A1 gene from a blood or saliva sample, identifying mutations associated with the disease.
What is the cost of the test?
The COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic Test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What are the symptoms of Legg-Calve-Perthes disease?
Common symptoms include limping, hip or thigh pain, stiffness, reduced range of motion, and leg muscle weakness.
Who should consider this genetic test?
Children with symptoms of Legg-Calve-Perthes disease, those with a family history, or individuals needing genetic counseling for bone disorders.
How accurate is the test?
NGS genetic testing is highly accurate for detecting mutations in the COL2A1 gene, but results should be interpreted in clinical context.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the COL2A1 gene, increasing the risk for Legg-Calve-Perthes disease; further clinical evaluation is recommended.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may be possible through genetic counseling but requires specialized procedures.
How should I prepare for the test?
Provide clinical history, undergo genetic counseling, and follow sample collection instructions, such as avoiding food or drink before saliva collection if specified.
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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