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WDR72 Gene Amelogenesis imperfecta type 2A3 NGS Genetic Test

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WDR72 Gene Amelogenesis imperfecta type 2A3 NGS Genetic Test

Short Name: WDR72 AI Type 2A3 NGS Test

Also known as: Amelogenesis Imperfecta Type 2A3 Genetic Test, WDR72 Gene Mutation Test, AI2A3 NGS Test

WDR72 Gene Amelogenesis imperfecta type 2A3 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

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the WDR72 gene that cause Amelogenesis Imperfecta Type 2A3, enabling precise diagnosis, personalized treatment, and informed genetic counseling for patients and families.

Test Code
4835
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card with minimal discomfort.

Step 3

Report Delivery

Apply pressure to the collection site; resume normal activities. Store samples as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and draw a pedigree chart.
2
During the Test:Sample collection via blood draw or FTA card; analysis using NGS technology in the laboratory.
3
After the Test:Results delivered in 3-4 weeks; follow-up counseling for interpretation and management planning.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the WDR72 gene that cause Amelogenesis Imperfecta Type 2A3, enabling precise diagnosis, personalized treatment, and informed genetic counseling for patients and families.

How to Prepare

  • Fast for 8-12 hours if specified, though not required for this test
  • Bring identification and prescription
  • Inform staff of any medications or health conditions
  • Ensure proper labeling of samples

Doctor's Notes

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

"This test is essential for confirming Amelogenesis Imperfecta Type 2A3 caused by WDR72 gene mutations, aiding in personalized treatment planning and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Room temperatureUp to 48 hours for blood on FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples older than stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the WDR72 gene. A positive result confirms AI Type 2A3, while a negative result may require further testing or clinical correlation.
📊

Positive for pathogenic variant

Confirms diagnosis of Amelogenesis Imperfecta Type 2A3; genetic counseling and dental management recommended.

📊

Negative for pathogenic variant

No mutation detected in WDR72 gene; consider other genetic causes or clinical evaluation.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or dentist if symptoms of AI are present, after receiving test results, or for family planning and risk assessment.

Limitations

  • May not detect all possible mutations in the WDR72 gene
  • Results require interpretation by a genetic specialist
  • Does not rule out other genetic causes of AI
  • Genetic counseling is essential for comprehensive understanding

Risks & Considerations

  • Minor bruising or discomfort at blood draw site
  • Rare risk of infection
  • Psychological impact of genetic results; counseling provided

Interfering Factors

  • Poor sample quality or contamination
  • Insufficient DNA quantity
  • Hemolyzed blood samples
  • Recent blood transfusions may affect results

Compare With Similar Tests

TestWDR72 Gene Amelogenesis imperfecta type 2A3 NGS Genetic TestWhole Exome SequencingDental Genetic Panel
ComparisonWDR72 Gene Amelogenesis imperfecta type 2A3 NGS Genetic Test

Frequently Asked Questions

What is the WDR72 Gene Amelogenesis Imperfecta Type 2A3 NGS Genetic Test?
It is a genetic test using next-generation sequencing to identify mutations in the WDR72 gene that cause Amelogenesis Imperfecta Type 2A3, a disorder affecting tooth enamel.
Who should consider this test?
Individuals with symptoms of AI such as abnormal enamel, tooth sensitivity, or a family history of the disorder, as recommended by a dentist or geneticist.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to detect mutations in the WDR72 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home collection available across India.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
A positive result confirms AI Type 2A3 due to WDR72 mutation; a negative result may require further testing. Genetic counseling is provided for interpretation.
Are there any risks associated with the test?
Risks are minimal, such as slight bruising from blood draw. Psychological support is available through counseling.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but consultation with a genetic specialist is essential.
What is the accuracy of the test?
NGS technology provides high accuracy for detecting mutations, but no test is 100% definitive; clinical correlation is important.
Do I need genetic counseling before and after the test?
Yes, genetic counseling is recommended to understand implications, draw family pedigrees, and interpret results.
How do I book the test?
Book online through DNA Labs India's website or contact their customer service for appointment scheduling and home collection.
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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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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