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ENAM Gene Amelogenesis imperfecta type 1B NGS Genetic Test

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ENAM Gene Amelogenesis imperfecta type 1B NGS Genetic Test

Short Name: ENAM Gene AI Type 1B Test

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

ENAM Gene Amelogenesis imperfecta type 1B 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the ENAM Gene Amelogenesis Imperfecta Type 1B NGS Genetic Test is to detect mutations in the ENAM gene that cause Amelogenesis Imperfecta Type 1B, enabling accurate diagnosis, personalized treatment, and genetic counseling to prevent complications and manage associated health risks.

Test Code
4826
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Amelogenesis Imperfecta.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection involves drawing blood or using an FTA card as per standard procedures.

Step 3

Report Delivery

Store sample at ambient room temperature and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide detailed clinical and family history.
2
During the Test:Sample collection is non-invasive and quick, typically involving a blood draw.
3
After the Test:Results are delivered online or via email/WhatsApp within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the ENAM Gene Amelogenesis Imperfecta Type 1B NGS Genetic Test is to detect mutations in the ENAM gene that cause Amelogenesis Imperfecta Type 1B, enabling accurate diagnosis, personalized treatment, and genetic counseling to prevent complications and manage associated health risks.

How to Prepare

  • For blood sample: Use standard venipuncture techniques
  • For FTA card: Apply one drop of blood as per instructions
  • Ensure proper labeling and documentation

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for ENAM gene mutations is crucial for accurate diagnosis and management of Amelogenesis Imperfecta Type 1B, aiding in early intervention, treatment planning, and family genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Ambient Room TemperatureStable for transport as per guidelines
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Sample not stored or transported correctly

Understanding Your Results

Results indicate the presence or absence of mutations in the ENAM gene associated with Amelogenesis Imperfecta Type 1B.
📊

Pathogenic mutation detected

Confirms diagnosis of Amelogenesis Imperfecta Type 1B; consider treatment and genetic counseling.

📊

No pathogenic mutation detected

Does not rule out other forms of Amelogenesis Imperfecta; clinical correlation recommended.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic specialist if symptoms of Amelogenesis Imperfecta are present, such as tooth discoloration or enamel defects, or if there is a family history of the disorder.

Limitations

  • ⚠Test may not detect all possible mutations in the ENAM gene
  • ⚠Results require interpretation by a qualified geneticist or healthcare provider
  • ⚠Genetic testing does not replace clinical examination and dental assessment

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of misinterpretation without professional guidance

Frequently Asked Questions

What is the ENAM Gene Amelogenesis Imperfecta Type 1B NGS Genetic Test?
It is a genetic test that analyzes the ENAM gene for mutations causing Amelogenesis Imperfecta Type 1B, a disorder affecting tooth enamel development, using Next Generation Sequencing technology.
What are the symptoms of Amelogenesis Imperfecta Type 1B?
Symptoms include yellow-brown or grey tooth discoloration, thin enamel that chips easily, rough or pitted enamel, increased tooth decay risk, and sensitivity to hot and cold.
How is the test performed?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card, which is analyzed using NGS technology in a laboratory.
What is the cost of the test?
The cost of the ENAM Gene Amelogenesis Imperfecta Type 1B NGS Genetic Test in India is INR 20,000, which may vary by laboratory and location.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India for online bookings.
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 a pathogenic mutation in the ENAM gene, confirming the diagnosis of Amelogenesis Imperfecta Type 1B.
Can this test be used for genetic counseling?
Yes, the test helps identify carriers and provides information for genetic counseling to families affected by the disorder.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What are the advantages of this test?
Advantages include accurate diagnosis, early treatment, carrier identification for genetic counseling, and prevention of complications.
Who should consider this test?
Individuals with symptoms of Amelogenesis Imperfecta, a family history of the disorder, or clinical suspicion should consider this test.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is not typically covered under government schemes like PMJAY or CGHS.
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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