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COL1A2 Gene Osteogenesis imperfecta NGS Genetic Test

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COL1A2 Gene Osteogenesis imperfecta NGS Genetic Test

COL1A2 Gene Osteogenesis imperfecta 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.

Genetic TestAll Ages🏠 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 COL1A2 gene for accurate diagnosis of Osteogenesis Imperfecta, aiding in clinical management, genetic counseling, and family planning.

Test Code
5085
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

Clinical history of the patient who is going for COL1A2 Gene Osteogenesis Imperfecta NGS Genetic Test. A genetic counseling session to draw a pedigree chart of family members affected with Osteogenesis Imperfecta.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Osteogenesis Imperfecta.

About This Test

Who Should Get This Test

To identify mutations in the COL1A2 gene for accurate diagnosis of Osteogenesis Imperfecta, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Provide a blood sample or extracted DNA
  • Use an FTA card for one drop of blood if applicable
  • Ensure sample is collected and transported as per guidelines

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results from the COL1A2 Gene NGS Genetic Test indicate the presence or absence of mutations in the COL1A2 gene associated with Osteogenesis Imperfecta.
Positive Result: Pathogenic variant detected, confirming diagnosis of Osteogenesis Imperfecta due to COL1A2 mutation.
Negative Result: No pathogenic variants detected in the COL1A2 gene, making OI less likely but not ruling out other genetic causes.
Variant of Uncertain Significance (VUS): A genetic change is found but its clinical significance is unclear; further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of Osteogenesis Imperfecta are present, after receiving test results for interpretation, or for genetic counseling regarding family planning.

Risks & Considerations

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

Frequently Asked Questions

What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta (OI) is a rare genetic disorder that causes bones to break easily, often with little or no apparent trauma. It is also known as brittle bone disease.
What causes Osteogenesis Imperfecta?
OI is primarily caused by mutations in genes like COL1A1 or COL1A2, which are responsible for producing type 1 collagen, a key protein in bones.
What is the COL1A2 gene?
The COL1A2 gene provides instructions for making the alpha-2 chain of type 1 collagen. Mutations in this gene can lead to Osteogenesis Imperfecta, particularly severe forms like type 2.
How is Osteogenesis Imperfecta diagnosed?
Diagnosis involves a physical exam, medical history, imaging tests like X-rays, and genetic testing such as the COL1A2 Gene NGS Test to confirm mutations.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a advanced technology that analyzes DNA to identify genetic mutations. For OI, it sequences the entire COL1A2 gene for accurate detection.
How accurate is the COL1A2 Gene NGS Test?
The test is highly accurate, using NGS technology to detect mutations in the COL1A2 gene with high sensitivity and specificity for diagnosing OI.
What is the cost of the COL1A2 Gene OI NGS Test?
The test costs INR 20,000 at DNA Labs India, which includes free home sample collection across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the COL1A2 Gene OI NGS Test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before taking the test?
Provide your clinical history and undergo a genetic counseling session to draw a family pedigree chart for accurate interpretation.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options like chorionic villus sampling or amniocentesis.
What are the treatment options for Osteogenesis Imperfecta?
Treatment focuses on managing symptoms, including physical therapy, medications to strengthen bones, surgical interventions for fractures, and ongoing genetic counseling.
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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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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