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DSPP Gene Dentinogenesis imperfecta, Shields type 2 NGS Genetic Test

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DSPP Gene Dentinogenesis imperfecta, Shields type 2 NGS Genetic Test

Short Name: DSPP DI Type 2 NGS Test

Also known as: Dentinogenesis Imperfecta Type 2, DSPP-related DI, Shield Type 2 DI

DSPP Gene Dentinogenesis imperfecta, Shields type 2 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

✍️ 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 DSPP gene that cause Dentinogenesis Imperfecta Shields type 2, aiding in diagnosis, genetic counseling, and management.

Test Code
4886
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

No special preparation required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a drop of blood collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or dentist to understand the test implications.
2
During the Test:The test involves DNA extraction and sequencing from the provided sample.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the DSPP gene that cause Dentinogenesis Imperfecta Shields type 2, aiding in diagnosis, genetic counseling, and management.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for DSPP mutations is crucial for early diagnosis and management of Dentinogenesis Imperfecta, helping in family planning and treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the DSPP gene. Positive results confirm genetic cause, while negative results may require further testing.
Positive: Mutation detected, consistent with DI type 2
Negative: No mutation detected, but clinical symptoms may persist
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

If symptoms of Dentinogenesis Imperfecta are present, or for genetic counseling after a positive result.

Limitations

  • ⚠May not detect all types of DSPP mutations
  • ⚠Results require clinical correlation
  • ⚠Not a substitute for dental examination

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk
  • ●No significant risks from genetic testing itself

Interfering Factors

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

Frequently Asked Questions

What is DSPP Gene Dentinogenesis Imperfecta?
It is a genetic disorder caused by mutations in the DSPP gene, leading to abnormal dentin formation and dental issues like discoloration and fragility.
What are the symptoms of Shields type 2 DI?
Symptoms include discolored teeth (blue-gray or yellow-brown), translucent teeth, small and misshapen teeth, and teeth prone to wear and breakage.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze DNA from a blood sample or FTA card for mutations in the DSPP gene.
What is the cost of the test in India?
The cost is INR 20,000, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
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 indicates the presence of pathogenic mutations in the DSPP gene, confirming a genetic cause for Dentinogenesis Imperfecta.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specialized genetic counseling and different methods.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw; the genetic test itself poses no significant risks.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations, but may not identify all variants; clinical correlation is recommended.
What should I do if I have a family history of DI?
Consider genetic testing and counseling to assess risk and plan for management or family planning.
Is genetic counseling recommended before the test?
Yes, genetic counseling is advised to understand the implications, benefits, and limitations of the test.
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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