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ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test

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ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test

Short Name: ALOXE3 Gene Test

Also known as: Congenital nonbullous ichthyosiform erythroderma type 1, CIE type 1, ALOXE3-related ichthyosis

ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the ALOXE3 Gene NGS Genetic Test is to confirm the diagnosis of congenital nonbullous ichthyosiform erythroderma type 1 by identifying mutations in the ALOXE3 gene. It also helps in carrier detection for family members and supports prenatal diagnosis in high-risk families, aiding in genetic counseling and reproductive planning.

Test Code
4989
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. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site. Sample sent to laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation and genetic counseling session to discuss results.

About This Test

Who Should Get This Test

The purpose of the ALOXE3 Gene NGS Genetic Test is to confirm the diagnosis of congenital nonbullous ichthyosiform erythroderma type 1 by identifying mutations in the ALOXE3 gene. It also helps in carrier detection for family members and supports prenatal diagnosis in high-risk families, aiding in genetic counseling and reproductive planning.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label sample correctly

Doctor's Notes

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

"Genetic testing for ALOXE3 gene mutations is crucial for accurate diagnosis and family planning in cases of congenital ichthyosiform erythroderma."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Room Temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the ALOXE3 gene, helping to confirm or rule out congenital ichthyosiform erythroderma type 1.
📊

Pathogenic variant detected

Confirms diagnosis of ichthyosiform erythroderma type 1; genetic counseling recommended.

📊

No pathogenic variant detected

Unlikely to have the condition, but clinical correlation is advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms persist, for family planning advice, or after receiving test results to discuss management options.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Cannot predict disease severity
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the ALOXE3 Gene Test?
The ALOXE3 Gene Test is an NGS genetic test that detects mutations in the ALOXE3 gene, associated with congenital nonbullous ichthyosiform erythroderma type 1, a rare skin disorder.
Who should take this test?
Individuals with symptoms of congenital ichthyosiform erythroderma, family history of the disorder, or those seeking carrier testing or prenatal diagnosis should consider this test.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is analyzed using Next-Generation Sequencing (NGS) to identify mutations in the ALOXE3 gene.
What is the cost of the test?
The cost of the ALOXE3 Gene NGS Genetic Test in India is INR 20000, which includes home sample collection and genetic counseling.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether pathogenic variants are detected in the ALOXE3 gene. A positive result confirms the diagnosis, while a negative result suggests the condition is unlikely, but clinical correlation is advised.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand the implications for diagnosis, family planning, and management.
Can this test be used for prenatal diagnosis?
Yes, if a family has a known ALOXE3 mutation, this test can be used for prenatal diagnosis in high-risk pregnancies.
What are the symptoms of ichthyosiform erythroderma?
Symptoms include dry, scaly, thickened, and itchy skin, often present at birth, with possible redness, inflammation, and in severe cases, skin cracking and bleeding.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting mutations in the ALOXE3 gene, but it may not detect all types of mutations, and genetic counseling is advised for interpretation.
What should I do after receiving the results?
Consult a geneticist or dermatologist to discuss the results, understand management options, and plan for family counseling if needed.
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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