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AMTN Gene Amelotin deficiency NGS Genetic Test

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AMTN Gene Amelotin deficiency NGS Genetic Test

Short Name: AMTN Gene Deficiency Test

Also known as: Amelotin Deficiency Test, AMTN Gene Mutation Test

AMTN Gene Amelotin deficiency 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 TestAll Ages🏠 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 this test is to diagnose genetic mutations in the AMTN gene that cause Amelotin deficiency, leading to dental enamel defects. It helps in confirming the condition, guiding treatment, and assessing familial risk.

Test Code
4839
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

Clinical history review and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Sample collection via venipuncture for blood or non-invasive saliva/FTA card method.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and transported to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, family history, and test rationale.
2
During the Test:Sample collection procedure takes 10-15 minutes; minimal discomfort.
3
After the Test:Wait for report delivery in 3-4 weeks; schedule follow-up for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose genetic mutations in the AMTN gene that cause Amelotin deficiency, leading to dental enamel defects. It helps in confirming the condition, guiding treatment, and assessing familial risk.

How to Prepare

  • No fasting required
  • Provide detailed clinical and family history
  • Ensure sample is collected in a sterile environment
  • Avoid eating or drinking 30 minutes before saliva collection

Doctor's Notes

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

"Early genetic diagnosis of AMTN deficiency can guide preventive dental care and family planning, reducing risks of enamel-related complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card samples stable for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or documentation
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AMTN gene. A positive result confirms Amelotin deficiency, while a negative result suggests no detectable mutations, though clinical correlation is advised.
📊

Positive for pathogenic variant

Confirms AMTN gene deficiency; dental management and genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected; symptoms may be due to other causes; further evaluation advised.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown; follow-up testing and counseling suggested.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or dental specialist if symptoms persist, family history is positive, or after receiving test results for personalized management.

Limitations

  • ⚠May not detect all rare variants or epigenetic changes
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have psychological implications
  • ⚠Limited to AMTN gene; other enamel-related genes not covered

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological stress from genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Sample contamination
  • ●Improper sample collection or storage
  • ●Hemolyzed blood sample
  • ●Recent dental procedures affecting sample integrity

Compare With Similar Tests

TestAMTN Gene Amelotin deficiency NGS Genetic TestWhole Exome SequencingDental Enamel Gene PanelSanger SequencingSaliva DNA Test
ComparisonAMTN Gene Amelotin deficiency NGS Genetic Test

Frequently Asked Questions

What is AMTN gene deficiency?
AMTN gene deficiency is a genetic condition where mutations in the AMTN gene impair Amelotin protein production, leading to weak dental enamel and related symptoms.
What are the symptoms of AMTN gene deficiency?
Common symptoms include tooth sensitivity, decay, discoloration, and erosion due to compromised enamel quality.
How is the AMTN gene test performed?
The test uses NGS technology to analyze DNA from blood or saliva samples, detecting mutations in the AMTN gene.
What is the cost of the AMTN gene test in India?
The test costs INR 20,000, with home sample collection available at no extra charge in many cities.
Is home sample collection available?
Yes, free home collection is offered for online bookings across India, including major cities like Mumbai, Delhi, and Bangalore.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Is the test accurate?
Yes, NGS genetic testing is highly accurate for detecting AMTN gene mutations, but genetic counseling is recommended for interpretation.
Who should take this test?
Individuals with symptoms of dental enamel defects, family history of such conditions, or those seeking genetic diagnosis should consider this test.
What if the test is positive?
A positive result confirms AMTN deficiency; consult a dentist or geneticist for management plans, including preventive dental care.
Is genetic counseling required?
Yes, genetic counseling is advised before and after testing to understand implications, family risks, and result interpretation.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it, but private insurance might.
How to prepare for the test?
No fasting is needed. Provide clinical history, ensure proper sample collection, and attend a genetic counseling session if possible.
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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