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AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic Test

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AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic Test

Short Name: AMELX Gene AI Type 1E NGS Test

Also known as: AMELX gene test, Amelogenesis imperfecta genetic test, Dental enamel disorder genetic test

AMELX Gene Amelogenesis imperfecta type 1E 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 pathogenic mutations in the AMELX gene for diagnosis of Amelogenesis Imperfecta Type 1E, enabling targeted dental treatment, genetic counseling, and family planning.

Test Code
4829
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 specific preparation required. Provide clinical history and genetic counseling session.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis. Report delivered in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Wait for report; follow-up with specialist for interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the AMELX gene for diagnosis of Amelogenesis Imperfecta Type 1E, enabling targeted dental treatment, genetic counseling, and family planning.

How to Prepare

  • Use sterile collection tubes
  • Label samples correctly
  • Store at ambient temperature

Doctor's Notes

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

"This NGS test is crucial for diagnosing Amelogenesis Imperfecta Type 1E, enabling personalized dental care and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube: stable for 7 days at room temperature
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AMELX gene. A positive result confirms Amelogenesis Imperfecta Type 1E, while a negative result suggests no mutations detected, but clinical correlation is needed.
📊

Pathogenic variant detected

Confirms diagnosis of Amelogenesis Imperfecta Type 1E. Genetic counseling recommended.

📊

No pathogenic variant detected

No mutations found in AMELX gene. Consider other genetic or environmental causes.

📊

Variant of uncertain significance

Further testing or family studies may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or dental specialist if symptoms persist, for family planning advice, or to understand test results.

Limitations

  • ⚠May not detect all types of AMELX gene mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic causes of enamel defects

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Insufficient sample volume
  • ●Recent blood transfusion

Compare With Similar Tests

TestAMELX Gene Amelogenesis imperfecta type 1E NGS Genetic TestAMELX Gene SequencingDental Genetics Panel
ComparisonAMELX Gene Amelogenesis imperfecta type 1E NGS Genetic Test

Frequently Asked Questions

What is the AMELX Gene Amelogenesis Imperfecta Type 1E NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the AMELX gene, causing Amelogenesis Imperfecta Type 1E, a disorder affecting tooth enamel.
What is the cost of this test?
The test costs INR 20,000 at DNA Labs India, including home sample collection.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to identify gene mutations.
What samples are required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result confirms a mutation in the AMELX gene, indicating Amelogenesis Imperfecta Type 1E.
Can this test be used for family planning?
Yes, it can identify carriers and guide genetic counseling for family planning.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. It is not typically covered under government schemes.
What are the symptoms of Amelogenesis Imperfecta Type 1E?
Symptoms include thin, weak, or discolored enamel, rough surfaces, increased tooth decay, delayed tooth eruption, and abnormal tooth shape.
How accurate is the NGS genetic test?
NGS technology offers high accuracy with >99% sensitivity and specificity for mutation detection.
Where can I get this test done?
DNA Labs India offers this test with home collection across major cities in India. Book online for convenience.
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.

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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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