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KRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic Test

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KRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic Test

Short Name: KRT9 EPPK Genetic Test

Also known as: KRT9 Mutation Analysis, Epidermolytic Hyperkeratosis of Palms and Soles Genetic Test

KRT9 Gene Epidermolytic palmoplantar keratoderma 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the KRT9 Gene Epidermolytic Palmoplantar Keratoderma NGS Genetic Test is to accurately diagnose the condition by detecting mutations in the KRT9 gene using next-generation sequencing. This helps in confirming the genetic cause, guiding treatment plans, enabling genetic counseling for family planning, and differentiating from other skin disorders.

Test Code
2410
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 is required. Inform the laboratory about any medications, recent treatments, or existing health conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm using a needle and syringe. For DNA extraction, standard procedures are followed.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bleeding. Resume normal activities immediately after.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider to discuss symptoms, family history, and the need for genetic testing. A genetic counseling session is recommended to draw a pedigree chart.
2
During the Test:The test involves extracting DNA from the blood sample and sequencing the KRT9 gene using next-generation sequencing technology to detect mutations.
3
After the Test:Review results with a geneticist or dermatologist for interpretation and follow-up care, which may include management strategies and family screening.

About This Test

Who Should Get This Test

The purpose of the KRT9 Gene Epidermolytic Palmoplantar Keratoderma NGS Genetic Test is to accurately diagnose the condition by detecting mutations in the KRT9 gene using next-generation sequencing. This helps in confirming the genetic cause, guiding treatment plans, enabling genetic counseling for family planning, and differentiating from other skin disorders.

How to Prepare

  • Ensure patient identification is correct
  • Use sterile equipment for blood collection
  • Label sample tubes properly with patient details
  • For FTA card, apply one drop of blood as instructed

Doctor's Notes

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

"Early genetic diagnosis through KRT9 testing is crucial for managing symptoms, providing genetic counseling, and informing family planning for epidermolytic palmoplantar keratoderma."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples are stable at room temperature for 48 hours
Extracted DNA is stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results from the KRT9 Gene NGS Genetic Test are interpreted by clinical geneticists to identify pathogenic mutations associated with epidermolytic palmoplantar keratoderma.
Positive result: Pathogenic mutation detected in KRT9 gene, confirming diagnosis
Negative result: No pathogenic variants detected; consider other genetic or non-genetic causes
Variant of uncertain significance: Further testing or family studies may be needed for clarification
⚠️ When to Consult a Doctor:

Consult a dermatologist or genetic counselor if you experience symptoms like thick skin on palms/soles, painful blisters, fissures, nail changes, or have a family history of epidermolytic palmoplantar keratoderma.

Limitations

  • ⚠May not detect all types of mutations in the KRT9 gene
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising, slight pain, or infection at the puncture site

Interfering Factors

  • ●DNA degradation in sample
  • ●Sample contamination
  • ●Hemolysis in blood sample

Compare With Similar Tests

TestKRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic Test
ComparisonKRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic Test

Frequently Asked Questions

What is KRT9 gene epidermolytic palmoplantar keratoderma?
It is a rare genetic disorder caused by mutations in the KRT9 gene, leading to thick, scaly skin, blisters, and fissures on the palms and soles.
How is this condition diagnosed?
Diagnosis is typically through genetic testing, such as the KRT9 Gene NGS Genetic Test, which identifies mutations in the KRT9 gene.
What does the NGS genetic test involve?
The test uses next-generation sequencing to analyze DNA from a blood sample for mutations in the KRT9 gene.
How much does the test cost in India?
The cost is approximately INR 20,000, though it may vary by laboratory. DNA Labs India offers it at a discounted price with home collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings 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 are the risks of the test?
The risks are minimal and related to blood draw, such as bruising or slight discomfort.
Can this condition be treated?
There is no cure, but symptoms can be managed with treatments like moisturizers, keratolytics, and avoiding triggers. Genetic counseling is recommended.
Who should consider this test?
Individuals with symptoms like thick skin on palms/soles, blisters, or a family history of the condition should consider testing.
What is the role of genetic counseling?
Genetic counseling helps interpret test results, understand inheritance patterns, and plan for family screening or management.
How accurate is the test?
The test is highly accurate for detecting mutations in the KRT9 gene using NGS technology, but results should be correlated with clinical findings.
Where can I get this test done?
DNA Labs India provides this test nationwide with home collection and walk-in options. Contact us or book online for services.
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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