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IFITM5 Gene Osteogenesis imperfecta type 5 NGS Genetic Test

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IFITM5 Gene Osteogenesis imperfecta type 5 NGS Genetic Test

Also known as: OI Type 5, Brittle Bone Disease Type 5

IFITM5 Gene Osteogenesis imperfecta type 5 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.

Next-Generation Sequencing (NGS)All 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 diagnose Osteogenesis Imperfecta Type 5 by detecting mutations in the IFITM5 gene using NGS technology.

Test Code
5090
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. Provide clinical history and undergo genetic counseling if recommended.

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a saliva sample may be collected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree chart during genetic counseling.
2
During the Test:Sample collection is quick and minimally invasive.
3
After the Test:Results will be available online or via email/WhatsApp within 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose Osteogenesis Imperfecta Type 5 by detecting mutations in the IFITM5 gene using NGS technology.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes
  • Label samples accurately

Doctor's Notes

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

"As a physician specializing in genetics and obstetrics-gynecology, I recommend this test for individuals with symptoms of brittle bone disease or a family history of Osteogenesis Imperfecta to confirm diagnosis and guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the IFITM5 gene. A positive result confirms a diagnosis of Osteogenesis Imperfecta Type 5, while a negative result may require further testing.
📊

Positive

Pathogenic variant detected, confirming OI Type 5. Consult a genetic specialist for management.

📊

Negative

No pathogenic variants detected. Consider other genetic or clinical evaluations if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience frequent fractures, bone pain, or other symptoms of brittle bone disease, or if you have a family history of Osteogenesis Imperfecta.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other forms of Osteogenesis Imperfecta

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Incidental findings may require further evaluation

Frequently Asked Questions

What is Osteogenesis Imperfecta Type 5?
Osteogenesis Imperfecta Type 5 is a rare genetic disorder caused by mutations in the IFITM5 gene, leading to brittle bones, frequent fractures, and other skeletal abnormalities.
What causes OI Type 5?
It is caused by mutations in the IFITM5 gene, which affects bone formation and remodeling.
How is the IFITM5 Gene NGS Test performed?
The test uses Next-Generation Sequencing to analyze a blood or DNA sample for mutations in the IFITM5 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider. It is not typically covered under government schemes like PMJAY or CGHS.
Who should get this test?
Individuals with symptoms like frequent fractures, weak bones, short stature, or a family history of OI should consider this test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What do the results mean?
A positive result indicates a mutation in the IFITM5 gene, confirming OI Type 5. A negative result means no pathogenic variants were detected.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
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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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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