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KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic Test

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KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic Test

Short Name: KRT16 PPK NGS Test

Also known as: Focal PPK, KRT16-related keratoderma, Nonepidermolytic focal palmoplantar keratoderma

KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to confirm a diagnosis of KRT16 Gene Palmoplantar Keratoderma by identifying mutations in the KRT16 gene, enabling appropriate medical management and genetic counseling.

Test Code
5102
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 special preparation is required. Provide clinical history and family pedigree as advised.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture or finger-prick methods.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless otherwise directed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide a detailed clinical history and family pedigree. No fasting or special preparation is needed.
2
During the Test:A small blood sample is drawn from a vein in the arm or via finger-prick. The process is quick and minimally invasive.
3
After the Test:You may experience slight bruising at the puncture site. Results will be available in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of KRT16 Gene Palmoplantar Keratoderma by identifying mutations in the KRT16 gene, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Label the sample correctly with patient details
  • Transport the sample to the lab within the specified stability period

Doctor's Notes

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

"Early genetic testing for KRT16 mutations can aid in accurate diagnosis and guide management strategies for palmoplantar keratoderma, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples: Stable for 24 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the KRT16 gene. A positive result confirms the genetic basis for palmoplantar keratoderma, while a negative result may require further testing.
📊

Positive for pathogenic mutation

Confirms diagnosis of KRT16-related palmoplantar keratoderma. Genetic counseling recommended.

📊

Negative for pathogenic mutation

No mutations detected in the KRT16 gene. 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 geneticist if you experience symptoms such as thickened skin on palms and soles, or if you have a family history of the condition, for appropriate testing and management.

Limitations

  • May not detect all possible mutations in the KRT16 gene
  • Results require interpretation by a genetic specialist
  • Test does not assess for other genetic conditions unless specified

Risks & Considerations

  • Minor bruising or discomfort at the blood draw site
  • Very low risk of infection or bleeding
  • Emotional impact of genetic results; counseling is advised

Interfering Factors

  • Poor sample quality or insufficient DNA
  • Contamination during sample collection or processing
  • Recent blood transfusions may affect DNA analysis

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ComparisonKRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic Test

Frequently Asked Questions

What is KRT16 Gene Palmoplantar Keratoderma?
It is a rare genetic disorder causing thickened skin on the palms and soles due to mutations in the KRT16 gene.
What are the symptoms of this condition?
Symptoms include painful thickening of skin on hands and feet, cracking, bleeding, and increased infection risk, often starting in infancy.
How is the condition diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, to identify mutations in the KRT16 gene.
What is the NGS Genetic Test?
Next-Generation Sequencing (NGS) is a advanced genetic test that sequences genes to detect mutations accurately.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, including sample collection, sequencing, and analysis.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is fasting required for the test?
No, fasting is not required for this genetic test.
What should I do before the test?
Provide your clinical history and family pedigree. No special preparation is needed.
How accurate is the genetic test?
The NGS test is highly accurate for detecting mutations in the KRT16 gene, but interpretation by a genetic specialist is recommended.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate 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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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.

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