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COL1A1 Gene Osteogenesis imperfecta NGS Genetic Test

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COL1A1 Gene Osteogenesis imperfecta NGS Genetic Test

Also known as: Osteogenesis Imperfecta, Brittle Bone Disease

COL1A1 Gene Osteogenesis imperfecta 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the COL1A1 gene for the diagnosis of Osteogenesis Imperfecta, enabling early intervention and personalized management.

Test Code
5082
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

Patient must provide a detailed clinical history and undergo a genetic counselling session to draw a pedigree chart of family members affected with Osteogenesis Imperfecta.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) 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:Provide clinical history and undergo genetic counselling as required.
2
During the Test:Sample collection via blood draw or DNA extraction.
3
After the Test:Wait for report delivery in 3 to 4 weeks; consult genetic counsellor for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the COL1A1 gene for the diagnosis of Osteogenesis Imperfecta, enabling early intervention and personalized management.

How to Prepare

  • Blood sample: Collect via venipuncture in appropriate tubes.
  • Extracted DNA: Ensure proper handling and storage.
  • FTA Card: Use one drop of blood on the card as per instructions.

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 COL1A1 Gene NGS Genetic Test indicate the presence or absence of mutations associated with Osteogenesis Imperfecta. A positive result confirms a genetic diagnosis, while a negative result may require further clinical evaluation.
Positive: Pathogenic variant detected in COL1A1 gene, confirming OI diagnosis.
Negative: No pathogenic variants found; clinical correlation recommended.
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a healthcare professional if you or a family member experience symptoms such as frequent fractures, bone deformities, or other signs of Osteogenesis Imperfecta, or after receiving test results for interpretation and management.

Frequently Asked Questions

What is Osteogenesis Imperfecta (OI)?
Osteogenesis Imperfecta is a rare genetic disorder characterized by bones that break easily, often due to mutations in the COL1A1 gene affecting collagen production.
What are the common symptoms of OI?
Symptoms include frequent bone fractures, bone deformities, short stature, loose joints, blue or gray tint to the eyes, weak teeth, and hearing loss.
How is OI diagnosed?
Diagnosis involves physical examination, medical history, imaging tests like X-rays, and genetic testing such as the COL1A1 Gene NGS Genetic Test.
What does the COL1A1 Gene NGS Genetic Test involve?
It uses next-generation sequencing to analyze the COL1A1 gene for mutations, confirming a diagnosis of Osteogenesis Imperfecta.
What is the cost of the COL1A1 Gene OI NGS Test in India?
The test costs approximately INR 20,000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Some insurance plans may cover genetic testing for OI, but coverage varies. It is advisable to check with your insurance provider.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What should I do if the test result is positive?
A positive result confirms OI; consult a healthcare professional or genetic counsellor for management and treatment options.
Are there any risks associated with genetic testing?
Genetic testing is generally safe, but may have psychological implications. Genetic counselling is recommended before and after testing.
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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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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