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ENAM Gene Amelogenesis imperfecta type 1C NGS Genetic Test

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ENAM Gene Amelogenesis imperfecta type 1C NGS Genetic Test

Short Name: ENAM Gene AI Type 1C NGS Test

Also known as: ENAM Gene Test, Amelogenesis Imperfecta Type 1C Genetic Test, ENAM AI Type 1C Test

ENAM Gene Amelogenesis imperfecta type 1C 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

To diagnose amelogenesis imperfecta type 1C by detecting pathogenic mutations in the ENAM gene using next-generation sequencing, enabling accurate genetic confirmation and guiding clinical management.

Test Code
4828
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 undergo genetic counseling if advised.

Method: Venipuncture for blood, or saliva collection

Step 2

Laboratory Analysis

Sample collected via venipuncture for blood or saliva swab. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to puncture site if blood drawn. Resume normal activities immediately.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Sample collection takes a few minutes. Minimal risks involved.
3
After the Test:Results available in 3-4 weeks. Follow-up with healthcare provider recommended.

About This Test

Who Should Get This Test

To diagnose amelogenesis imperfecta type 1C by detecting pathogenic mutations in the ENAM gene using next-generation sequencing, enabling accurate genetic confirmation and guiding clinical management.

How to Prepare

  • Ensure proper identification
  • Use sterile collection kits
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"This test is essential for confirming genetic causes of enamel defects, aiding in early diagnosis, family planning, and personalized dental care management."

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 for blood, or saliva collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ENAM gene. Positive results confirm amelogenesis imperfecta type 1C, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of amelogenesis imperfecta type 1C. Genetic counseling recommended.

📊

No pathogenic variant detected

Does not rule out other genetic causes. Clinical correlation advised.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like discolored teeth, enamel defects, or family history of amelogenesis imperfecta are present, or after receiving test results for management guidance.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical dental examination

Risks & Considerations

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

Interfering Factors

  • ●Contaminated sample
  • ●Improper sample storage
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is amelogenesis imperfecta type 1C?
It is a genetic disorder caused by mutations in the ENAM gene, leading to defective tooth enamel development, resulting in weak, discolored, and cavity-prone teeth.
How is the ENAM gene test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood or saliva sample, identifying mutations in the ENAM gene.
What are the symptoms of amelogenesis imperfecta type 1C?
Symptoms include discolored teeth, thin or translucent enamel, rough or pitted enamel surfaces, and increased risk of cavities and tooth decay.
Who should consider this genetic test?
Individuals with symptoms of amelogenesis imperfecta, family history of the disorder, or those seeking genetic confirmation for dental anomalies.
How accurate is the NGS genetic test?
The test is highly accurate and reliable, using advanced NGS technology to detect pathogenic variants in the ENAM gene with high sensitivity.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, kit, and analysis. It may not be covered by insurance.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
Is the test covered by insurance?
This test may not be covered by insurance. It is advisable to check with your insurance provider before testing.
What do the results mean?
Positive results confirm amelogenesis imperfecta type 1C due to ENAM gene mutations. Negative results may require further evaluation.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible but requires genetic counseling and consultation with a specialist to assess feasibility.
What are the risks of the test?
Risks are minimal, including minor bruising from blood draw and rare infection. Genetic counseling helps manage emotional aspects.
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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