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KRT17 Gene Pachyonychia congenita type 2 NGS Genetic Test

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KRT17 Gene Pachyonychia congenita type 2 NGS Genetic Test

Short Name: KRT17 PC-2 NGS Test

Also known as: Pachyonychia congenita type 2, PC-2, KRT17-related pachyonychia congenita

KRT17 Gene Pachyonychia congenita type 2 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

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify mutations in the KRT17 gene for accurate diagnosis of Pachyonychia congenita type 2, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
5097
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

Genetic counseling recommended to discuss implications. Provide clinical history and family pedigree.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using an FTA card for DNA preservation.

Step 3

Report Delivery

Sample is transported to the lab under controlled conditions for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, delivery, and follow-up consultation with healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the KRT17 gene for accurate diagnosis of Pachyonychia congenita type 2, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • No specific fasting required unless indicated by physician
  • Ensure proper labeling of sample
  • Follow aseptic techniques during collection

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS genetic test is essential for confirming Pachyonychia congenita type 2 diagnosis, guiding personalized 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

Blood sample stable for 24 hours at room temperature
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KRT17 gene, which are causative for Pachyonychia congenita type 2.
📊

Positive for pathogenic variant

Confirms diagnosis of PC-2. Genetic counseling and management planning recommended.

📊

Negative for pathogenic variant

No mutation detected in KRT17 gene. Consider other genetic or non-genetic causes; further testing may be needed.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unclear. Repeat testing or family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a dermatologist or geneticist if symptoms persist, worsen, or if there is a family history of similar conditions for accurate diagnosis and management.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results require clinical correlation
  • ⚠Does not assess other genes associated with similar disorders

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results requiring further investigation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestKRT17 Gene Pachyonychia congenita type 2 NGS Genetic Test
ComparisonKRT17 Gene Pachyonychia congenita type 2 NGS Genetic TestLess specific for genetic diagnosis; may show histological changes but cannot confirm gene mutations.Targeted but less comprehensive than NGS for detecting multiple mutations.

Frequently Asked Questions

What is Pachyonychia congenita type 2?
Pachyonychia congenita type 2 (PC-2) is a rare genetic disorder caused by mutations in the KRT17 gene, leading to symptoms like thickened nails, painful calluses, and oral lesions.
What are the common symptoms of PC-2?
Common symptoms include dystrophic nails, palmoplantar keratoderma (painful calluses on feet and hands), blistering, and oral leukokeratosis.
How is PC-2 diagnosed?
Diagnosis is confirmed through genetic testing, such as the KRT17 Gene NGS Test, which identifies mutations in the KRT17 gene. Skin biopsy may also be used adjunctively.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the KRT17 gene for mutations from a blood or DNA sample, providing high accuracy for diagnosis.
What is the cost of the KRT17 Gene PC-2 NGS Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of PC-2, a family history of the disorder, or those seeking definitive genetic diagnosis for management should consider this test.
What are the limitations of the test?
The test may not detect all mutation types, and results require clinical correlation. It does not assess other genes linked to similar conditions.
How can I book the test?
You can book the test online through DNA Labs India's website or contact their customer service for assistance with home collection or walk-in options.
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.

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✓ 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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