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P3H1 Gene Osteogenesis imperfecta type 8 NGS Genetic Test

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P3H1 Gene Osteogenesis imperfecta type 8 NGS Genetic Test

Short Name: P3H1 Gene OI Type 8 Test

Also known as: OI Type 8, Brittle Bone Disease Type 8, P3H1-Related Osteogenesis Imperfecta

P3H1 Gene Osteogenesis imperfecta type 8 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.

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

The purpose of the P3H1 Gene Osteogenesis Imperfecta Type 8 NGS Genetic Test is to identify mutations in the P3H1 gene that cause osteogenesis imperfecta type 8. This test confirms diagnosis, guides treatment decisions, aids in genetic counseling, and helps assess family risk.

Test Code
2449
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 and a genetic counseling session to draw a pedigree chart of family members affected with osteogenesis imperfecta type 8.

Method: Blood Draw or Saliva Collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva, following standard procedures.

Step 3

Report Delivery

Sample is processed and analyzed in the laboratory; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before testing.
2
During the Test:Sample collection is minimally invasive, involving blood draw or saliva collection.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider is advised for interpretation.

About This Test

Who Should Get This Test

The purpose of the P3H1 Gene Osteogenesis Imperfecta Type 8 NGS Genetic Test is to identify mutations in the P3H1 gene that cause osteogenesis imperfecta type 8. This test confirms diagnosis, guides treatment decisions, aids in genetic counseling, and helps assess family risk.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Follow sample collection guidelines
  • Ensure proper labeling of samples

Doctor's Notes

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

"Early genetic diagnosis of osteogenesis imperfecta type 8 through P3H1 gene testing is crucial for personalized management, family planning, and improving patient outcomes."

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the P3H1 gene. Positive results confirm osteogenesis imperfecta type 8, while negative results may require further testing if clinical suspicion remains high.
📊

Positive for pathogenic variant

Confirms diagnosis of osteogenesis imperfecta type 8; genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected in P3H1 gene; consider other genetic causes or clinical evaluation.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience frequent bone fractures, short stature, scoliosis, blue/gray eye tint, loose joints, weak teeth, or have a family history of osteogenesis imperfecta.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample collection

Frequently Asked Questions

What is osteogenesis imperfecta type 8?
Osteogenesis imperfecta type 8 is a rare genetic disorder that causes bones to be brittle and prone to fractures due to mutations in the P3H1 gene.
What causes osteogenesis imperfecta type 8?
It is caused by mutations in the P3H1 gene, which affects collagen production essential for bone strength.
What are the symptoms of osteogenesis imperfecta type 8?
Symptoms include frequent bone fractures, short stature, scoliosis, blue/gray tint to eyes, loose joints, and weak teeth.
How is osteogenesis imperfecta type 8 diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as the P3H1 Gene NGS Genetic Test.
What is the P3H1 Gene Osteogenesis Imperfecta Type 8 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the P3H1 gene for mutations to confirm osteogenesis imperfecta type 8.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Genetic testing may not be covered by insurance; patients should check with their provider beforehand.
How is the sample collected?
Samples can be collected via blood draw, saliva, or one drop of blood on an FTA card, with home collection options.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of pathogenic variants in the P3H1 gene, indicating osteogenesis imperfecta type 8.
What are the treatment options for osteogenesis imperfecta type 8?
Treatment focuses on symptom management, including physical therapy, bracing, surgery, and medications to improve bone density.
Can osteogenesis imperfecta type 8 be prevented?
As a genetic disorder, it cannot be prevented, but early diagnosis and management can reduce complications and improve quality of life.
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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✓ 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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