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C4orf26 Gene Amelogenesis imperfecta type 2A4 NGS Genetic Test

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C4orf26 Gene Amelogenesis imperfecta type 2A4 NGS Genetic Test

Short Name: C4orf26 AI Type 2A4 NGS Test

Also known as: Amelogenesis Imperfecta Type 2A4 Genetic Test, C4orf26 Mutation Analysis, Enamel Defect Genetic Test

C4orf26 Gene Amelogenesis imperfecta type 2A4 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

🩺 Medically Reviewed By

Overview

The purpose of the C4orf26 Gene Amelogenesis Imperfecta Type 2A4 NGS Genetic Test is to detect mutations in the C4orf26 gene that cause Amelogenesis Imperfecta Type 2A4. This helps in confirming the diagnosis, understanding the genetic basis of the disorder, guiding treatment options, and providing information for genetic counseling and family planning.

Test Code
4838
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

No specific preparation required. Ensure genetic counseling session is scheduled to discuss family history and draw a pedigree chart.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger-prick for FTA card collection. The process takes about 10-15 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store samples as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss symptoms, family history, and draw a pedigree chart. No fasting is required.
2
During the Test:A blood sample is collected via venipuncture or finger-prick. The sample is sent to the lab for NGS analysis.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the C4orf26 Gene Amelogenesis Imperfecta Type 2A4 NGS Genetic Test is to detect mutations in the C4orf26 gene that cause Amelogenesis Imperfecta Type 2A4. This helps in confirming the diagnosis, understanding the genetic basis of the disorder, guiding treatment options, and providing information for genetic counseling and family planning.

How to Prepare

  • Avoid eating or drinking for 30 minutes before blood draw if specified
  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for Amelogenesis Imperfecta Type 2A4 can aid in early diagnosis, guide dental treatment, and inform family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results from the C4orf26 Gene Amelogenesis Imperfecta Type 2A4 NGS Genetic Test indicate the presence or absence of mutations in the C4orf26 gene. A positive result confirms a genetic diagnosis of AI Type 2A4, while a negative result may suggest other causes or the need for further testing.
📊

Pathogenic variant detected

Confirms diagnosis of Amelogenesis Imperfecta Type 2A4. Genetic counseling and dental management recommended.

📊

Likely pathogenic variant detected

Suggests high risk for AI Type 2A4. Further clinical evaluation and family testing advised.

📊

No pathogenic variant detected

C4orf26 gene mutations not found. Consider other genetic or environmental causes of enamel defects.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you experience symptoms of Amelogenesis Imperfecta, have a family history of the condition, or receive a positive genetic test result for guidance on treatment and family planning.

Limitations

  • Test only screens for mutations in the C4orf26 gene
  • May not detect all genetic causes of Amelogenesis Imperfecta
  • Results require interpretation by a genetic specialist

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Emotional impact from genetic results; genetic counseling recommended

Interfering Factors

  • Sample contamination during collection
  • Degraded DNA due to improper storage
  • Hemolyzed blood samples

Compare With Similar Tests

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ComparisonC4orf26 Gene Amelogenesis imperfecta type 2A4 NGS Genetic Test

Frequently Asked Questions

What is Amelogenesis Imperfecta Type 2A4?
It is a rare genetic disorder affecting tooth enamel development, caused by mutations in the C4orf26 gene, leading to discolored, pitted, and weak enamel.
Who should consider this genetic test?
Individuals with symptoms of Amelogenesis Imperfecta, such as discolored or fragile teeth, or those with a family history of the condition.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample or extracted DNA for mutations in the C4orf26 gene.
What is the cost of the test?
The C4orf26 Gene Amelogenesis Imperfecta Type 2A4 NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result confirms a genetic diagnosis of AI Type 2A4, while a negative result may indicate other causes. Genetic counseling is recommended for interpretation.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic counseling can help address emotional concerns.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes. For prenatal testing, consult a genetic counselor for appropriate options.
Is the test covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your provider. DNA Labs India offers competitive pricing.
What should I do before the test?
Schedule a genetic counseling session to discuss family history and draw a pedigree chart. No special preparation is needed.
How accurate is the NGS technology used?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted by qualified professionals in clinical context.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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