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KRT16 Gene Pachyonychia congenita type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KRT16 Gene Pachyonychia congenita type 1 NGS Genetic Test

Short Name: KRT16 Gene Test

Also known as: Pachyonychia Congenita Type 1 Genetic Test, KRT16 Mutation Analysis, PC Type 1 NGS Test

KRT16 Gene Pachyonychia congenita type 1 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 TestAll Ages🏠 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 diagnose Pachyonychia Congenita Type 1 by detecting mutations in the KRT16 gene using NGS technology, enabling accurate identification, management, and genetic counseling for affected individuals and families.

Test Code
5096
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. Provide clinical history and family pedigree chart as advised.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

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:Sample collection takes a few minutes. Inform staff of any allergies or medical conditions.
3
After the Test:Results available in 3-4 weeks. Follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Pachyonychia Congenita Type 1 by detecting mutations in the KRT16 gene using NGS technology, enabling accurate identification, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature as specified

Doctor's Notes

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

"This test is crucial for confirming Pachyonychia Congenita Type 1, guiding management and family counseling. Early diagnosis can improve quality of life through targeted care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL of blood
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:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of mutations in the KRT16 gene. Positive results confirm Pachyonychia Congenita Type 1, while negative results may require further testing if clinical suspicion remains.
📊

Pathogenic variant detected

Confirms diagnosis of Pachyonychia Congenita Type 1. Genetic counseling and management recommended.

📊

No pathogenic variant detected

Pachyonychia Congenita Type 1 unlikely, but clinical correlation and additional tests may be needed.

📊

Variant of uncertain significance

Further testing or family studies advised for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms suggestive of Pachyonychia Congenita are present, or after receiving test results for management and counseling.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising or discomfort at the puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Degraded DNA samples
  • ●Contamination during sample collection
  • ●Recent blood transfusions

Frequently Asked Questions

What is the KRT16 Gene Pachyonychia Congenita Type 1 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the KRT16 gene, which causes Pachyonychia Congenita Type 1, a rare skin disorder.
Who should consider this test?
Individuals with symptoms like thickened nails, blisters, or oral lesions, and those with a family history of Pachyonychia Congenita.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What does a positive result mean?
A positive result confirms a mutation in the KRT16 gene, indicating Pachyonychia Congenita Type 1. Genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
It is primarily for diagnostic purposes; prenatal testing may require additional consultation with a genetic specialist.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw. Emotional support may be needed for result interpretation.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider. DNA Labs India offers affordable pricing.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting mutations, but results should be correlated with clinical findings by a healthcare 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

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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