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SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic Test

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SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic Test

Short Name: SERPINH1 OI Type 10 NGS Test

Also known as: Brittle Bone Disease

SERPINH1 Gene Osteogenesis imperfecta type 10 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 Test🏠 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

To identify mutations in the SERPINH1 gene for the diagnosis of Osteogenesis Imperfecta Type 10, aiding in early detection, management, and genetic counseling.

Test Code
5086
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

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

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed and shipped to the lab under ambient room temperature conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling as per pre-test requirements.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample analysis using NGS technology; report delivery in 3-4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the SERPINH1 gene for the diagnosis of Osteogenesis Imperfecta Type 10, aiding in early detection, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"This NGS genetic test is essential for early and accurate diagnosis of Osteogenesis Imperfecta Type 10, enabling timely 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
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect sample type or insufficient volume
  • Improper labeling or documentation

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic mutations in the SERPINH1 gene. A positive result confirms OI Type 10, while a negative result may require further testing.
Positive: Pathogenic mutation detected, confirming OI Type 10 diagnosis.
Negative: No pathogenic variant detected; clinical correlation recommended.
Variant of Uncertain Significance (VUS): Mutation found but significance unclear; genetic counseling advised.
⚠️ When to Consult a Doctor:

Consult a geneticist or physician immediately after receiving test results for proper diagnosis, management planning, and genetic counseling.

Limitations

  • ⚠May not detect all possible mutations in the SERPINH1 gene
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not assess other genes associated with OI

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Hemolyzed or degraded blood samples

Frequently Asked Questions

What is the SERPINH1 Gene Osteogenesis Imperfecta Type 10 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the SERPINH1 gene for mutations causing Osteogenesis Imperfecta Type 10, a brittle bone disorder.
What is the cost of this test?
The test costs INR 20,000, with free home sample collection available across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What are the symptoms of Osteogenesis Imperfecta Type 10?
Symptoms include frequent fractures, weak bones, short stature, loose joints, blue sclera, and dental problems.
How is the test performed?
The test involves analyzing the SERPINH1 gene using NGS technology to detect mutations associated with OI Type 10.
Who should consider this test?
Individuals with symptoms of OI, family history of the disorder, or those needing confirmatory diagnosis should consider this test.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the SERPINH1 gene, confirming OI Type 10 diagnosis.
Are there any risks associated with the test?
The test involves a standard blood draw, with minimal risks like bruising or discomfort.
What should I do after receiving the results?
Consult a geneticist or physician for interpretation, management, and genetic counseling.
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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