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KLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic Test

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KLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic Test

Short Name: KLK4 AI Type 2A1 NGS Test

Also known as: AI Type 2A1, KLK4-related Amelogenesis Imperfecta, Amelogenesis Imperfecta Type 2A1 Genetic Test

KLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the KLK4 gene for accurate diagnosis of Amelogenesis Imperfecta Type 2A1, enabling personalized treatment, family risk assessment, and genetic counseling.

Test Code
4833
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
Step 1

Sample Collection

Genetic counseling and informed consent are recommended. Provide clinical history and family pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or finger prick for FTA card collection.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to draw a family pedigree chart and obtain informed consent. Provide clinical history.
2
During the Test:Sample collection (blood or FTA card) and processing for NGS analysis.
3
After the Test:Report generation, delivery, and follow-up consultation for interpretation and management.

About This Test

Who Should Get This Test

To identify mutations in the KLK4 gene for accurate diagnosis of Amelogenesis Imperfecta Type 2A1, enabling personalized treatment, family risk assessment, and genetic counseling.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Avoid hemolysis during blood collection
  • Use sterile techniques
  • Store samples as per guidelines

Doctor's Notes

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

"Genetic testing for KLK4 mutations is essential for accurate diagnosis, family risk assessment, and personalized management of Amelogenesis Imperfecta Type 2A1."

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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood in EDTA tube: Stable at 4°C for 72 hours
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the KLK4 gene, helping confirm Amelogenesis Imperfecta Type 2A1 diagnosis.
📊

Positive

Pathogenic variant detected in KLK4 gene, confirming diagnosis of Amelogenesis Imperfecta Type 2A1. Genetic counseling and targeted dental management recommended.

📊

Negative

No pathogenic variants detected in KLK4 gene. Clinical symptoms may require further genetic testing or evaluation for other causes.

📊

Variant of Uncertain Significance

A genetic variant found, but its clinical significance is unclear. Follow-up testing and clinical correlation advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or dentist if symptoms persist, for genetic counseling, or to discuss test results and management options.

Limitations

  • ⚠Only detects mutations in the KLK4 gene
  • ⚠May not identify all genetic causes of Amelogenesis Imperfecta
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Implications for family members

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestKLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic TestSanger SequencingAmelogenesis Imperfecta Gene Panel
ComparisonKLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic Test

Frequently Asked Questions

What is KLK4 Gene Amelogenesis Imperfecta Type 2A1?
It is a genetic disorder caused by mutations in the KLK4 gene, leading to defective tooth enamel development, resulting in thin, fragile, and discolored enamel.
What are the common symptoms of this condition?
Symptoms include thin or pitted enamel, tooth sensitivity, cavities, delayed tooth eruption, abnormal tooth shape, and yellow/brown discoloration.
How is the NGS Genetic Test performed?
The test uses Next Generation Sequencing to analyze the KLK4 gene from a blood sample or FTA card, identifying genetic mutations associated with the disorder.
What is the cost of the KLK4 Gene NGS Test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across many cities.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic KLK4 gene mutation, diagnosing Amelogenesis Imperfecta Type 2A1 and guiding treatment.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, including children, especially if symptoms are present or there is a family history.
Is genetic counseling included with the test?
Yes, a genetic counseling session is recommended before testing to draw a family pedigree chart and discuss implications.
What are the treatment options after diagnosis?
Treatment focuses on dental care, such as crowns, veneers, or bonding, and preventive measures to manage symptoms and prevent complications.
How accurate is the NGS test for detecting KLK4 mutations?
NGS is highly accurate for identifying genetic mutations, but results should be interpreted in conjunction with clinical findings.
Where can I get this test done?
You can book the test through DNA Labs India, with sample collection available at home or walk-in centers in major cities across India.
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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