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LRP5 Gene Osteoporosis pseudoglioma syndrome NGS Genetic Test

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LRP5 Gene Osteoporosis pseudoglioma syndrome NGS Genetic Test

Short Name: LRP5 Gene OPPG NGS Test

Also known as: Osteoporosis Pseudoglioma Syndrome, OPPG, LRP5-related disorder

LRP5 Gene Osteoporosis pseudoglioma syndrome 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the LRP5 Gene OPPG NGS Genetic Test is to identify pathogenic mutations in the LRP5 gene associated with Osteoporosis Pseudoglioma Syndrome. This aids in accurate diagnosis, differentiation from other bone or eye disorders, risk assessment for family members, and personalized management strategies.

Test Code
5095
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 of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture for blood or saliva collection

Step 2

Laboratory Analysis

Sample collected via venipuncture for blood or saliva collection in a sterile container.

Step 3

Report Delivery

Apply pressure to the puncture site; store sample at ambient room temperature as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before sample collection.
2
During the Test:Sample is processed in the lab using NGS technology for mutation analysis.
3
After the Test:Results are reviewed by geneticists and delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the LRP5 Gene OPPG NGS Genetic Test is to identify pathogenic mutations in the LRP5 gene associated with Osteoporosis Pseudoglioma Syndrome. This aids in accurate diagnosis, differentiation from other bone or eye disorders, risk assessment for family members, and personalized management strategies.

How to Prepare

  • Ensure patient identification and consent
  • Use appropriate collection tubes for blood or saliva
  • Label samples correctly with patient details
  • Transport samples to the lab within specified stability period

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This NGS test is essential for confirming OPPG diagnosis, guiding management, and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood or saliva collection

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples exceeding stability period

Understanding Your Results

Results from the LRP5 Gene OPPG NGS Genetic Test indicate the presence or absence of pathogenic mutations in the LRP5 gene. A positive result confirms OPPG diagnosis, while a negative result suggests no detectable mutations, though clinical correlation is advised.
📊

Positive for pathogenic variant

Confirms diagnosis of Osteoporosis Pseudoglioma Syndrome; genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected in LRP5 gene; consider other genetic or clinical causes for symptoms.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed; consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms such as frequent fractures, vision problems, or low bone density persist, or if there is a family history of OPPG. Genetic counseling is advised before and after testing.

Limitations

  • May not detect all types of genetic variants, such as large deletions or duplications
  • Variants of uncertain significance (VUS) may be identified
  • Test results should be correlated with clinical findings
  • Does not rule out other genetic causes of similar symptoms

Risks & Considerations

  • Minimal physical risks from blood draw, such as bruising or infection
  • Psychological impact of genetic results, including anxiety or distress
  • Potential for incidental findings unrelated to OPPG

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Hemolyzed blood samples
  • Insufficient sample volume

Frequently Asked Questions

What is Osteoporosis Pseudoglioma Syndrome (OPPG)?
OPPG is a rare genetic disorder caused by mutations in the LRP5 gene, leading to low bone density and eye abnormalities such as blindness.
What are the symptoms of OPPG?
Common symptoms include frequent fractures, low bone density, vision impairment or blindness, short stature, and sometimes intellectual disability.
How is OPPG diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS analysis of the LRP5 gene, along with clinical evaluation.
What is the cost of the LRP5 Gene OPPG NGS Genetic Test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is the test covered by insurance?
Genetic testing may not be covered by insurance; it is advisable to check with your provider before testing.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive test result mean?
A positive result confirms the presence of LRP5 gene mutations, indicating OPPG diagnosis, and guides management and genetic counseling.
Can the test detect all mutations in the LRP5 gene?
The test uses NGS for high accuracy, but may not detect all types of variants, such as large deletions; consult a geneticist for interpretation.
What should I do before getting tested?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart for accurate assessment.
Are there any risks associated with the test?
Risks are minimal, including minor discomfort from blood draw and potential psychological impact of results; genetic counseling is recommended.
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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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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