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SLC24A4 Gene Amelogenesis imperfecta type 2A5 NGS Genetic Test

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SLC24A4 Gene Amelogenesis imperfecta type 2A5 NGS Genetic Test

Short Name: SLC24A4 AI Type 2A5 Genetic Test

Also known as: Amelogenesis Imperfecta Type 2A5, SLC24A4 Gene Test, AI Type 2A5 NGS Test

SLC24A4 Gene Amelogenesis imperfecta type 2A5 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.

Next-Generation Sequencing (NGS)🏠 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 identify mutations in the SLC24A4 gene and other genes associated with amelogenesis imperfecta type 2A5, enabling early diagnosis, risk assessment, and informed management of the condition to prevent dental complications.

Test Code
4836
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 detailed clinical history of the patient and attend a genetic counseling session to draw a pedigree chart of family members affected with amelogenesis imperfecta.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Sample collection involves a simple blood draw via venipuncture or a finger prick for blood on FTA card, or saliva collection, performed by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as per instructions and await report delivery in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Before the test, provide clinical history and undergo genetic counseling to understand the implications and draw a family pedigree chart.
2
During the Test:During the test, a blood or saliva sample is collected non-invasively and sent for NGS analysis in the laboratory.
3
After the Test:After the test, wait for 3-4 weeks for results. Follow up with a healthcare provider to interpret findings and plan management.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the SLC24A4 gene and other genes associated with amelogenesis imperfecta type 2A5, enabling early diagnosis, risk assessment, and informed management of the condition to prevent dental complications.

How to Prepare

  • Ensure the patient provides accurate clinical history
  • Attend the scheduled genetic counseling session
  • Label the sample correctly with patient details
  • Follow aseptic techniques during collection

Doctor's Notes

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

"Early genetic testing for SLC24A4 mutations can guide preventive dental care and family planning, especially for individuals with a family history of enamel defects."

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 or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples are stable at room temperature for up to 24 hours
FTA card samples are stable at room temperature for extended periods
Extracted DNA should be stored at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples not collected as per guidelines

Understanding Your Results

Interpretation of results should be done by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Positive result: Pathogenic mutation detected in SLC24A4 gene, indicating increased risk for amelogenesis imperfecta type 2A5; consult for management options.
Negative result: No pathogenic variants detected, but clinical symptoms may persist due to other genetic or environmental factors.
Variant of uncertain significance: Genetic change identified but clinical significance unknown; further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a doctor or geneticist if symptoms of amelogenesis imperfecta are present, for family planning advice, or to discuss test results and management strategies.

Limitations

  • ⚠May not detect all possible mutations in the SLC24A4 gene
  • ⚠Results require correlation with clinical findings and family history
  • ⚠Not a substitute for comprehensive dental or medical evaluation
  • ⚠Variant of uncertain significance may require further testing

Risks & Considerations

  • ●Minimal risk of bruising or discomfort at the blood draw site
  • ●Rare risk of infection at the puncture site
  • ●No significant risks associated with saliva collection

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection or processing
  • ●Hemolyzed or degraded blood samples

Compare With Similar Tests

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ComparisonSLC24A4 Gene Amelogenesis imperfecta type 2A5 NGS Genetic Test

Frequently Asked Questions

What is amelogenesis imperfecta type 2A5?
It is a rare genetic disorder affecting tooth enamel development due to mutations in the SLC24A4 gene, leading to thin, rough, and discolored enamel.
How is the SLC24A4 Gene NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the SLC24A4 gene from a blood or saliva sample, identifying mutations associated with the condition.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the SLC24A4 gene, suggesting an increased risk for amelogenesis imperfecta type 2A5 and the need for clinical management.
Is the test painful or invasive?
No, the test is non-invasive and requires only a simple blood draw or saliva collection, causing minimal discomfort.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What are the symptoms of amelogenesis imperfecta type 2A5?
Symptoms include thin, rough, discolored enamel, tooth sensitivity, pain, and increased risk of tooth decay and fractures.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the implications of testing.
What treatment options are available after diagnosis?
Treatment may involve dental procedures such as bonding, crowns, or veneers, along with regular dental exams to manage symptoms.
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.
What sample types are accepted for the test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card.
How accurate is the NGS Genetic Test?
NGS is a highly accurate method for detecting genetic mutations, but results should be interpreted in conjunction with clinical findings by a qualified professional.
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

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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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