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CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic Test

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CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic Test

Short Name: CLDN1 Gene NGS Genetic Test

Also known as: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome, CLDN1-related disorder

CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic mutations in the CLDN1 gene to confirm diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome, enabling appropriate medical management and genetic counseling.

Test Code
2421
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with CLDN1-related disorders.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or a drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample will be labeled and transported to the laboratory under appropriate conditions for DNA extraction and analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with CLDN1-related disorders.
2
During the Test:Blood sample will be collected via venipuncture or a drop on FTA card by a trained phlebotomist.
3
After the Test:Sample will be labeled and transported to the laboratory under appropriate conditions for DNA extraction and analysis.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the CLDN1 gene to confirm diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Bring identification and doctor's prescription
  • Inform about any medications or health conditions
  • Ensure sample is properly labeled

Doctor's Notes

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

"This NGS test is essential for accurate diagnosis of CLDN1-related syndromes, guiding treatment and genetic counseling."

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 for blood, or as per DNA extraction
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
📊

No pathogenic variants detected

Negative for CLDN1 gene mutations; consider other diagnoses or further testing

📊

Pathogenic variant(s) detected

Positive for CLDN1 gene mutations; confirms diagnosis and guides management and genetic counseling

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, worsen, or if genetic counseling is needed for family planning or treatment decisions.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires correlation with clinical findings
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●No significant risks from genetic testing itself

Interfering Factors

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

Compare With Similar Tests

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ComparisonCLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic Test

Frequently Asked Questions

What is the CLDN1 Gene NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the CLDN1 gene associated with ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.
Who is this test recommended for?
Individuals with symptoms of ichthyosis, leukocyte vacuoles, alopecia, or sclerosing cholangitis, or those with a family history of CLDN1 mutations.
How is the sample collected?
Through a blood draw or a drop of blood on an FTA card, with home collection available across India.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and genetic counseling report.
Is fasting required before the test?
No, fasting is not required for this test.
How long does it take to receive the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic mutations in the CLDN1 gene are detected, confirming or ruling out the diagnosis.
Are there any risks involved?
The test involves a standard blood draw with minimal risks like bruising or infection.
Can this test be used for prenatal testing?
It may be used for prenatal diagnosis in high-risk families, but genetic counseling is essential.
How accurate is the NGS test?
NGS technology is highly accurate for detecting genetic mutations, but interpretation should be done by a specialist.
Do I need a doctor's referral for this test?
A doctor's prescription or referral is recommended for accurate clinical correlation.
How can I book the test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
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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