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DNA Labs India

Osteogenesis Imperfecta Gene Panel Test

DNA Labs India | ISO 9001:2015 Certified

Osteogenesis Imperfecta Gene Panel Test

Short Name: OI Gene Panel

Also known as: OI Gene Panel, Brittle Bone Disease Gene Panel, Bone Fragility Gene Panel

Osteogenesis Imperfecta Gene Panel Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Whole Blood, Saliva, Buccal Swab samples. Results in Results are typically available within 2-4 weeks after sample receipt.. Free home collection in 300+ cities across India.

Gene Panel🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the Osteogenesis Imperfecta Gene Panel is to provide accurate genetic diagnosis of OI, guide personalized treatment plans, facilitate genetic counseling for families, and enable prenatal or preconception screening to assess recurrence risks.

Test Code
3439
Price
₹20,000
Sample Type
Whole Blood, Saliva, Buccal Swab
Result Time
Results are typically available within 2-4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Ensure proper identification and consent.

Method: Venipuncture for blood, swab for saliva/buccal

Step 2

Laboratory Analysis

For blood: Clean the site with antiseptic, use a sterile needle and EDTA tube. For saliva/buccal swab: Follow kit instructions for sample collection.

Step 3

Report Delivery

Label samples correctly and transport to the lab at room temperature within 24 hours.

Timeline: Results are typically available within 2-4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing. Provide informed consent and family history details.
2
During the Test:Sample collection as per instructions. The test involves NGS in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist. Follow-up counseling may be arranged based on findings.

About This Test

Who Should Get This Test

The purpose of the Osteogenesis Imperfecta Gene Panel is to provide accurate genetic diagnosis of OI, guide personalized treatment plans, facilitate genetic counseling for families, and enable prenatal or preconception screening to assess recurrence risks.

How to Prepare

  • Use aseptic technique to avoid contamination
  • For blood collection, invert the EDTA tube gently 8-10 times
  • For saliva, avoid eating or drinking 30 minutes prior
  • Store samples at room temperature and ship promptly

Doctor's Notes

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

"This gene panel is crucial for confirming OI diagnosis and guiding personalized treatment, especially in prenatal and family planning contexts."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood, Saliva, Buccal Swab
Sample Volume5 mL for blood, 2 mL for saliva
ContainerEDTA tube for blood, sterile container for saliva/swab
Collection MethodVenipuncture for blood, swab for saliva/buccal

Sample Stability

Whole blood: Stable for 7 days at room temperature
Saliva: Stable for 5 days at room temperature
Buccal swab: Stable for 3 days at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or unlabeled samples
  • Samples older than stability period

Understanding Your Results

Results from the Osteogenesis Imperfecta Gene Panel indicate the presence or absence of pathogenic variants in the analyzed genes. A positive result confirms a genetic diagnosis of OI, while a negative result does not entirely rule out OI due to limitations in testing.
📊

Pathogenic variant detected

Confirms genetic diagnosis of OI; subtype and severity may be inferred from specific gene mutation

📊

Likely pathogenic variant detected

Strong evidence for OI; clinical correlation and family studies recommended

📊

Variant of uncertain significance (VUS)

Insufficient evidence for pathogenicity; further testing or monitoring may be needed

📊

No pathogenic variants detected

OI not confirmed by this panel; consider other genetic or non-genetic causes

⚠️ When to Consult a Doctor:

Consult a geneticist or orthopedic specialist if results are positive, if VUS is identified, or if clinical symptoms persist despite negative results.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Variants of uncertain significance (VUS) may be identified, requiring further evaluation
  • ⚠Does not rule out other genetic or environmental causes of bone fragility

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage or handling
  • ●Presence of inhibitors in the sample affecting NGS analysis

Compare With Similar Tests

TestOsteogenesis Imperfecta Gene Panel
ComparisonOsteogenesis Imperfecta Gene Panel

Frequently Asked Questions

What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily, often with minimal trauma. It can also cause dental issues, hearing loss, and blue sclerae.
Why is genetic testing for OI important?
Genetic testing confirms the diagnosis, identifies specific mutations for targeted treatment, and provides information for genetic counseling and family planning.
What genes are analyzed in this panel?
The panel includes genes like COL1A1, COL1A2, BMP1, CRTAP, FKBP10, IFITM5, LRP5, and WNT1, which are associated with various subtypes of OI.
How is the test performed?
The test uses next-generation sequencing (NGS) to detect mutations in DNA extracted from blood, saliva, or buccal swab samples.
What is the turnaround time for results?
Results are typically available within 2-4 weeks after the sample is received at the laboratory.
Is home collection available for this test?
Yes, home collection is available for blood, saliva, or buccal swab samples across India.
What should I do if the test results are positive?
Consult a geneticist or orthopedic specialist for further evaluation, treatment options, and genetic counseling.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal or preconception screening in families with a history of OI, after genetic counseling.
Are there any risks associated with the test?
The test itself has minimal risks, such as bruising from blood draw. However, genetic results may have psychological impacts, so counseling is recommended.
What if a variant of uncertain significance (VUS) is found?
A VUS means the clinical significance is unclear. Further testing, family studies, or monitoring may be needed, and consultation with a geneticist is advised.
Is the test covered by insurance in India?
Coverage varies by insurance provider and policy. It is not typically covered under government schemes like PMJAY, but private insurance may offer partial coverage.
How accurate is this gene panel?
The panel has high analytical sensitivity and specificity using NGS, but it may not detect all possible mutations. Clinical correlation is essential for diagnosis.
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.

LIMS Integration

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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