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FAM83H Gene Amelogenesis imperfecta type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FAM83H Gene Amelogenesis imperfecta type 3 NGS Genetic Test

Also known as: Amelogenesis Imperfecta Type 3, AI-3, FAM83H-related AI

FAM83H Gene Amelogenesis imperfecta type 3 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the FAM83H gene for accurate diagnosis of Amelogenesis Imperfecta Type 3, aiding in treatment planning and genetic counseling.

Test Code
4837
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 FTA Card

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review to assess need for testing.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Report generation, interpretation, and follow-up consultation.

About This Test

Who Should Get This Test

To identify mutations in the FAM83H gene for accurate diagnosis of Amelogenesis Imperfecta Type 3, aiding in treatment planning and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis in blood samples
  • Follow FTA card instructions if used

Doctor's Notes

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

"Early genetic testing for FAM83H mutations can guide personalized dental care and family planning for Amelogenesis Imperfecta Type 3."

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 Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FAM83H gene, which are associated with Amelogenesis Imperfecta Type 3.
📊

Positive for pathogenic variant

Confirms diagnosis of AI-3; genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected; clinical evaluation may be needed.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of Amelogenesis Imperfecta are present, or if there is a family history of the condition, consult a geneticist or dentist for evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage

Frequently Asked Questions

What is the FAM83H Gene Amelogenesis Imperfecta Type 3 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the FAM83H gene, which causes Amelogenesis Imperfecta Type 3, a disorder affecting tooth enamel.
Who should take this test?
Individuals with symptoms of AI-3, such as discolored or fragile teeth, or those with a family history of the condition.
What are the symptoms of Amelogenesis Imperfecta Type 3?
Symptoms include discolored teeth, teeth prone to chipping, sensitivity to temperature, abnormally shaped teeth, and irregular surface texture.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to identify mutations in the FAM83H gene.
What is the cost of the test in India?
The cost is approximately INR 20,000, with home sample collection available.
Is the test covered by insurance?
Typically, genetic testing for AI-3 is not covered by insurance, so out-of-pocket payment is required.
How long does it take to get results?
Results are usually available in 3 to 4 weeks after sample collection.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in the FAM83H gene, indicating AI-3 diagnosis.
Can the test be used for prenatal diagnosis?
It may be used in prenatal settings with genetic counseling, but consultation with a specialist is recommended.
What are the risks of the test?
Risks are minimal, including minor bruising from blood draw or rare infection.
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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✓ 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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