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PPIB Gene Osteogenesis imperfecta type 9 NGS Genetic Test

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PPIB Gene Osteogenesis imperfecta type 9 NGS Genetic Test

Short Name: PPIB Gene OI Type 9 NGS Test

Also known as: Osteogenesis Imperfecta Type 9, PPIB Gene Disorder, OI Type 9

PPIB Gene Osteogenesis imperfecta type 9 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) 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 diagnose Osteogenesis Imperfecta Type 9 by detecting pathogenic mutations in the PPIB gene using Next-Generation Sequencing (NGS) technology, aiding in early intervention and genetic counseling.

Test Code
2458
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

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

Step 2

Laboratory Analysis

Standard blood draw or sample collection using FTA card.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session.
2
During the Test:Blood draw or sample collection for DNA extraction.
3
After the Test:Wait for report delivery in 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose Osteogenesis Imperfecta Type 9 by detecting pathogenic mutations in the PPIB gene using Next-Generation Sequencing (NGS) technology, aiding in early intervention and genetic counseling.

How to Prepare

  • Blood sample collection via venipuncture
  • FTA card option available for one drop blood

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing Osteogenesis Imperfecta Type 9 and preventing complications such as recurrent fractures and skeletal deformities."

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 are interpreted based on the presence or absence of pathogenic mutations in the PPIB gene.
📊

Negative

No pathogenic variants detected in the PPIB gene.

📊

Positive

Pathogenic variant(s) detected, confirming Osteogenesis Imperfecta Type 9.

📊

Variant of Uncertain Significance

Mutation detected but clinical significance unclear; further testing recommended.

⚠️ When to Consult a Doctor:

If symptoms of Osteogenesis Imperfecta are present, such as frequent fractures or bone deformities, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minor bruising at collection site
  • ●Infection risk (rare)

Interfering Factors

  • ●Sample degradation
  • ●Contamination during collection

Frequently Asked Questions

What is Osteogenesis Imperfecta Type 9?
Osteogenesis Imperfecta Type 9 is a rare genetic disorder that causes brittle bones due to mutations in the PPIB gene, affecting collagen production.
What causes OI Type 9?
It is caused by mutations in the PPIB gene, which is responsible for producing a protein involved in collagen formation.
How is OI Type 9 diagnosed?
Diagnosis is through genetic testing, specifically Next-Generation Sequencing (NGS) of the PPIB gene to detect mutations.
What is the PPIB gene?
The PPIB gene encodes a protein that helps in collagen formation, essential for bone strength and structure.
What is NGS technology?
Next-Generation Sequencing (NGS) is an advanced DNA sequencing method that allows rapid and accurate analysis of genetic data for diagnosing disorders.
How much does the test cost?
The PPIB Gene Osteogenesis Imperfecta Type 9 NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Reports are delivered within 3 to 4 weeks after sample collection.
What are the symptoms of OI Type 9?
Symptoms include frequent bone fractures, weak or brittle bones, short stature, loose joints, and muscle weakness.
Can OI Type 9 be treated?
While there is no cure, management includes physical therapy, medications, and surgical interventions to prevent fractures and improve quality of life.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results, inheritance patterns, and family planning.
What should I do before the test?
Provide your clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.
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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