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SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic Test

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SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic Test

Short Name: SP7 Gene OI Type 12 NGS Test

Also known as: Osteogenesis Imperfecta Type 12 Genetic Test, SP7 Gene Mutation Test, OI Type 12 NGS Test

SP7 Gene Osteogenesis imperfecta type 12 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

The purpose of the SP7 Gene Osteogenesis Imperfecta Type 12 NGS Genetic Test is to diagnose OI Type 12 by detecting pathogenic mutations in the SP7 gene, enabling accurate clinical management and genetic counseling.

Test Code
5088
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

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a small blood drop is applied.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as instructed. Results will be available online in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample sent to lab for NGS analysis. Results delivered in 3-4 weeks with genetic counseling report.

About This Test

Who Should Get This Test

The purpose of the SP7 Gene Osteogenesis Imperfecta Type 12 NGS Genetic Test is to diagnose OI Type 12 by detecting pathogenic mutations in the SP7 gene, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

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

"Early diagnosis through genetic testing can guide management and family planning for OI Type 12, helping to reduce fracture risk and improve quality of life."

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 sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the SP7 gene associated with OI Type 12. Positive results confirm diagnosis, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of OI Type 12. Genetic counseling recommended for management and family planning.

📊

Negative for pathogenic variant

No mutation detected in SP7 gene. Symptoms may be due to other causes; consider additional genetic tests.

📊

Variant of Uncertain Significance

Further evaluation needed. Consult a geneticist for clinical correlation and possible family studies.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience frequent fractures, bone pain, or other symptoms of OI, or if you have a family history of the disorder. After testing, discuss results with a geneticist or specialist.

Limitations

  • ⚠May not detect all possible mutations in the SP7 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results are for diagnostic purposes and not for prenatal screening without additional tests

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestSP7 Gene Osteogenesis imperfecta type 12 NGS Genetic TestCOL1A1 Gene OI Type 1 TestBone Density Scan (DEXA)Comprehensive OI Genetic PanelPrenatal Genetic Testing
ComparisonSP7 Gene Osteogenesis imperfecta type 12 NGS Genetic Test

Frequently Asked Questions

What is Osteogenesis Imperfecta Type 12?
OI Type 12 is a rare genetic disorder caused by mutations in the SP7 gene, leading to brittle bones and other symptoms like short stature and blue sclera.
What causes OI Type 12?
It is caused by pathogenic mutations in the SP7 gene, which is involved in bone formation.
What are the symptoms of OI Type 12?
Common symptoms include frequent bone fractures, short stature, weak muscles, joint laxity, blue sclera, and dental problems.
How is OI Type 12 diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test for the SP7 gene, using a blood or saliva sample.
What is the NGS Genetic Test for SP7 Gene?
It is a Next Generation Sequencing test that analyzes DNA to detect mutations in the SP7 gene associated with OI Type 12.
How accurate is the SP7 Gene NGS Test?
The test is highly accurate and can detect even small mutations, but results should be interpreted with genetic counseling.
What is the cost of the SP7 Gene OI Type 12 NGS Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Who should get tested for OI Type 12?
Individuals with symptoms of OI, such as frequent fractures, or those with a family history of the disorder should consider testing.
Is genetic counseling required for this test?
Yes, genetic counseling is recommended before and after testing to understand implications and interpret results.
What are the risks of the genetic test?
Risks are minimal, mainly related to blood draw, but psychological impact may occur; counseling is provided to address this.
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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