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KRT2 Gene Ichthyosis, bullous type NGS Genetic Test

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KRT2 Gene Ichthyosis, bullous type NGS Genetic Test

Short Name: KRT2 Ichthyosis NGS Test

Also known as: Bullous Ichthyosis, KRT2-Related Ichthyosis, Keratin 2 Ichthyosis

KRT2 Gene Ichthyosis, bullous type 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To confirm the diagnosis of bullous ichthyosis caused by KRT2 gene mutations, guide treatment decisions, and provide genetic counseling for affected individuals and families.

Test Code
4996
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

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical and family history. Genetic counseling session may be scheduled.
2
During the Test:Blood sample is drawn and sent to the lab for NGS analysis.
3
After the Test:Results are reviewed by a geneticist. Follow-up consultation recommended.

About This Test

Who Should Get This Test

To confirm the diagnosis of bullous ichthyosis caused by KRT2 gene mutations, guide treatment decisions, and provide genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"This test is crucial for confirming bullous ichthyosis and guiding personalized treatment plans to manage symptoms and prevent complications."

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 blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the KRT2 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Positive

Pathogenic variant detected, confirming KRT2 gene ichthyosis. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Consider other genetic or clinical causes.

📊

Variant of Uncertain Significance

Further evaluation and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a dermatologist or geneticist if symptoms persist, worsen, or if family planning is considered after receiving test results.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Improper storage or handling
  • ●Insufficient sample volume

Compare With Similar Tests

TestKRT2 Gene Ichthyosis, bullous type NGS Genetic TestSkin BiopsyKRT1 Gene TestWhole Exome Sequencing
ComparisonKRT2 Gene Ichthyosis, bullous type NGS Genetic TestProvides histological analysis but may not identify genetic cause.Tests for other ichthyosis types; KRT2 test is specific for bullous type.Broader genetic analysis but more expensive and time-consuming.

Frequently Asked Questions

What is KRT2 Gene Ichthyosis, Bullous Type?
It is a rare genetic skin disorder caused by mutations in the KRT2 gene, leading to dry, scaly skin and blistering.
What are the symptoms of this condition?
Symptoms include thick, scaly skin, blistering, itching, redness, difficulty regulating body temperature, and abnormal nail growth.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the KRT2 gene from a blood or DNA sample.
What is the cost of the test in India?
The test costs INR 20,000, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result confirms the presence of a pathogenic KRT2 gene mutation, diagnosing bullous ichthyosis.
Is genetic counseling provided?
Yes, genetic counseling is included to help understand results and implications.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings, but consultation with a genetic specialist is required.
What are the treatment options after diagnosis?
Treatment focuses on symptom management, such as moisturizers, medications, and avoiding triggers.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. It is not typically covered under government schemes.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting genetic variants, but results should be interpreted by a geneticist.
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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