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KRT6A Gene Pachyonychia congenita type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KRT6A Gene Pachyonychia congenita type 3 NGS Genetic Test

Short Name: KRT6A PC Type 3 NGS Test

Also known as: PC Type 3, KRT6A-related Pachyonychia Congenita, Pachyonychia Congenita type 3 genetic test

KRT6A Gene Pachyonychia congenita 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

🩺 Medically Reviewed By

Overview

The purpose of the KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic Test is to identify mutations in the KRT6A gene that cause Pachyonychia Congenita Type 3. This test aids in confirming diagnosis, differentiating from other genetic disorders, guiding treatment strategies, and providing information for genetic counseling and family planning.

Test Code
5098
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

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required.
2
During the Test:Blood sample collection takes a few minutes. The test is non-invasive with minimal discomfort.
3
After the Test:Resume normal activities. Results will be available in 3 to 4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic Test is to identify mutations in the KRT6A gene that cause Pachyonychia Congenita Type 3. This test aids in confirming diagnosis, differentiating from other genetic disorders, guiding treatment strategies, and providing information for genetic counseling and family planning.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

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

"This NGS genetic test is essential for confirming Pachyonychia Congenita Type 3, guiding management, and informing family planning decisions."

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 Stability

Ambient Room TemperatureStable for 7 days
RefrigeratedStable for 30 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KRT6A gene. A positive result confirms Pachyonychia Congenita Type 3, while a negative result may require further testing or clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Pachyonychia Congenita Type 3. Genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected in KRT6A gene. Consider other genetic causes or clinical reassessment.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of Pachyonychia Congenita are present, for genetic counseling after test results, or for family planning guidance.

Limitations

  • May not detect all possible genetic variants
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minor bruising at puncture site
  • Rare risk of infection
  • Minimal discomfort during blood draw

Interfering Factors

  • Poor sample quality
  • Contaminated DNA
  • Insufficient sample volume

Frequently Asked Questions

What is Pachyonychia Congenita Type 3?
Pachyonychia Congenita Type 3 is a rare genetic disorder caused by mutations in the KRT6A gene, leading to symptoms like thickened nails, skin thickening on palms and soles, and other skin abnormalities.
What are the symptoms of Pachyonychia Congenita Type 3?
Symptoms include thickened nails (pachyonychia), plantar and palmar keratoderma, blisters or calluses on hands and feet, white patches in the mouth, and hoarseness of voice.
How is Pachyonychia Congenita Type 3 diagnosed?
Diagnosis involves clinical evaluation, family history assessment, and genetic testing such as the KRT6A Gene NGS Genetic Test to detect mutations.
What does the KRT6A Gene NGS Genetic Test involve?
The test uses Next-Generation Sequencing (NGS) technology to analyze the KRT6A gene for mutations, requiring a blood sample or extracted DNA.
What is the cost of the KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What sample type is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Can this test detect all types of mutations in the KRT6A gene?
Yes, the NGS technology can detect point mutations, insertions, deletions, and duplications in the KRT6A gene.
What should I do if the test result is positive?
A positive result confirms Pachyonychia Congenita Type 3. Consult a healthcare provider for management and genetic counseling.
Is genetic counseling recommended after the test?
Yes, genetic counseling is recommended to understand the results, implications for family members, and family planning.
Are there any risks associated with the test?
The test involves minimal risks such as minor bruising from blood draw, with no significant side effects.
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 Data Privacy

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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