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NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test

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NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test

Short Name: NIPAL4 Gene CIE Type 1 NGS Test

Also known as: CIE type 1, Congenital nonbullous ichthyosiform erythroderma type 1, NIPAL4-related ichthyosis

NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 (congenital onset)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose congenital nonbullous ichthyosiform erythroderma type 1 by detecting pathogenic mutations in the NIPAL4 gene using next-generation sequencing technology.

Test Code
4990
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card with one drop of blood.

Step 3

Report Delivery

Sample transported to the laboratory under controlled conditions for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test, implications, and provide informed consent.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Wait for the report (3-4 weeks) and schedule a follow-up with a healthcare provider for result interpretation.

About This Test

Who Should Get This Test

To diagnose congenital nonbullous ichthyosiform erythroderma type 1 by detecting pathogenic mutations in the NIPAL4 gene using next-generation sequencing technology.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Ensure sample is properly labeled

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for congenital disorders like CIE type 1 is vital for early intervention and family counseling, especially in prenatal or neonatal care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube: Stable at 2-8°C for 48 hours
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the NIPAL4 gene, which are causative for congenital nonbullous ichthyosiform erythroderma type 1.
📊

Positive

Pathogenic mutation detected in NIPAL4 gene, consistent with CIE type 1 diagnosis.

📊

Negative

No pathogenic variants detected; CIE type 1 unlikely but clinical correlation advised.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but clinical significance unknown; further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of ichthyosiform erythroderma are present, for genetic counseling, family planning, or if a family member has been diagnosed with CIE type 1.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Requires interpretation by a genetic specialist
  • ⚠Results may have psychological implications

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Recent blood transfusion

Compare With Similar Tests

TestNIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic TestTGM1 Gene Ichthyosis TestIchthyosis Comprehensive Gene PanelALOX12B Gene TestWhole Exome Sequencing
ComparisonNIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test

Frequently Asked Questions

What is the NIPAL4 Gene CIE Type 1 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the NIPAL4 gene, which causes congenital nonbullous ichthyosiform erythroderma type 1.
Who should consider this test?
Individuals with symptoms of CIE type 1, such as dry, scaly skin at birth, or those with a family history of the disorder.
What are the symptoms of CIE type 1?
Symptoms include red, thickened skin, fish scale appearance, itching, overgrowth on palms/soles, abnormal nails, and increased infection risk.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to identify NIPAL4 gene mutations.
What is the cost of the test?
The test costs INR 20,000 in India, with home sample collection available.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, free home collection is offered across many cities in India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the NIPAL4 gene, confirming a diagnosis of CIE type 1.
Can this test be used for prenatal diagnosis?
Yes, with genetic counseling, it can be considered for prenatal testing in at-risk families.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but genetic results may have emotional implications.
How do I prepare for the test?
Consult a genetic counselor, provide clinical history, and ensure proper sample collection as instructed.
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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