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MMP20 Gene Amelogenesis imperfecta type 2A2 NGS Genetic Test

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MMP20 Gene Amelogenesis imperfecta type 2A2 NGS Genetic Test

Short Name: MMP20 AI Type 2A2 NGS Test

Also known as: AI type 2A2, MMP20-related amelogenesis imperfecta, Amelogenesis imperfecta type IIA2

MMP20 Gene Amelogenesis imperfecta type 2A2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 diagnose amelogenesis imperfecta type 2A2 by detecting mutations in the MMP20 gene using Next-Generation Sequencing, enabling targeted management and genetic counseling.

Test Code
4834
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 (Next-Generation Sequencing)
Step 1

Sample Collection

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

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before sample collection.
2
During the Test:Sample collection via blood draw or FTA card; minimal discomfort.
3
After the Test:Results available in 3-4 weeks; follow-up with a genetic specialist for interpretation.

About This Test

Who Should Get This Test

To diagnose amelogenesis imperfecta type 2A2 by detecting mutations in the MMP20 gene using Next-Generation Sequencing, enabling targeted management and genetic counseling.

How to Prepare

  • Use EDTA tube for blood or FTA card for one drop
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic diagnosis of amelogenesis imperfecta can guide dental management and family planning, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood in EDTA: stable for 7 days at 2-8°C
FTA card: stable at room temperature for years
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MMP20 gene linked to amelogenesis imperfecta type 2A2.
📊

Positive for pathogenic variant

Confirms diagnosis of AI type 2A2; genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected in MMP20; consider other genetic or environmental causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms of amelogenesis imperfecta are present, such as discolored or fragile teeth, or for family planning with a history of AI.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Results require clinical correlation
  • ⚠Does not assess other genes associated with AI

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is amelogenesis imperfecta?
Amelogenesis imperfecta is a genetic disorder affecting tooth enamel development, leading to dental problems like discoloration and weakness.
What is the MMP20 gene?
The MMP20 gene encodes an enzyme involved in enamel formation; mutations can cause amelogenesis imperfecta type 2A2.
What are the symptoms of AI type 2A2?
Symptoms include discolored teeth, sensitivity, delayed eruption, and enamel abnormalities.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the MMP20 gene from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20000, with home sample collection available across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home collection available?
Yes, free home sample collection is offered for online bookings in many cities.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What do the results mean?
Results indicate if pathogenic variants in MMP20 are present, confirming AI type 2A2 or suggesting other causes.
Can this test be used for family planning?
Yes, genetic testing can inform family planning and counseling for hereditary conditions.
Is the test covered by insurance?
Coverage varies; check with your insurance provider for details on genetic testing coverage.
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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