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POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic Test

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POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic Test

Short Name: POMP Gene KLICK NGS Test

Also known as: KLICK syndrome, POMP gene disorder

POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the POMP gene for definitive diagnosis of Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome), guiding clinical management and genetic counseling.

Test Code
5040
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection procedure by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed in the lab for NGS analysis. Results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Sample collection via blood draw or FTA card, followed by NGS analysis in the lab.
3
After the Test:Results are available in 3 to 4 weeks, with reports delivered online or via email/WhatsApp.

About This Test

Who Should Get This Test

To identify mutations in the POMP gene for definitive diagnosis of Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome), guiding clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes or FTA cards
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for KLICK syndrome can guide management, inform family planning, and reduce diagnostic uncertainty for patients with congenital skin disorders."

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the POMP gene. A positive result confirms KLICK syndrome, while a negative result may require further testing.
Positive: Pathogenic variant detected – confirms diagnosis of KLICK syndrome.
Negative: No pathogenic variants – clinical symptoms may be due to other causes.
Variant of uncertain significance (VUS) – requires further evaluation and genetic counseling.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of KLICK, have a family history of the disorder, or need guidance on test results for management and family planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of inconclusive results requiring retesting

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated DNA
  • ●Recent blood transfusions

Frequently Asked Questions

What is KLICK syndrome?
KLICK syndrome is a rare genetic skin disorder caused by mutations in the POMP gene, leading to scaly, painful skin patches due to impaired skin shedding.
How is KLICK syndrome diagnosed?
Diagnosis involves physical examination, medical history review, and genetic testing such as NGS to identify POMP gene mutations.
What does the NGS Genetic Test for KLICK involve?
The test uses next-generation sequencing to analyze the POMP gene for mutations, performed on blood or DNA samples.
What are the symptoms of KLICK syndrome?
Symptoms include scaly skin patches, redness, cracks, blisters, thickening, itching, and burning sensations.
Who should consider this genetic test?
Individuals with symptoms of KLICK, a family history of the disorder, or those seeking confirmation for management and family planning.
What is the cost of the POMP Gene KLICK NGS Test?
The test costs INR 20000, with home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Are there any risks associated with the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
How should I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling before testing.
What do the results mean?
A positive result confirms KLICK syndrome, while a negative result may indicate other causes. Genetic counseling is recommended for interpretation.
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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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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