LIPN Gene Ichthyosis Lamellar Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Skin Disorders
The LIPN Gene Ichthyosis Lamellar Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by severe skin scaling conditions. This advanced genetic test specifically targets mutations in the LIPN gene, which plays a critical role in maintaining healthy skin barrier function and proper epidermal development.
What is Lamellar Ichthyosis Type 4?
Lamellar ichthyosis type 4 is a rare autosomal recessive genetic disorder characterized by severe, widespread scaling of the skin that typically presents at birth with a collodion membrane—a tight, shiny film covering the newborn’s body. This condition results from mutations in the LIPN gene, which encodes an enzyme essential for lipid metabolism in the skin’s outermost layer.
What Does the Test Detect?
Our comprehensive NGS genetic test specifically identifies:
- Pathogenic mutations in the LIPN gene associated with lamellar ichthyosis type 4
- Single nucleotide variants (SNVs) and small insertions/deletions
- Compound heterozygous and homozygous mutations
- Novel genetic variants with clinical significance assessment
- Carrier status for family members
Advanced NGS Technology
Utilizing state-of-the-art Next Generation Sequencing technology, our test provides comprehensive coverage of the entire LIPN gene coding region with high accuracy and sensitivity. This advanced methodology ensures detection of even rare genetic variants that might be missed by conventional testing methods.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Newborns born with collodion membrane
- Persistent, severe skin scaling affecting large body areas
- Family history of ichthyosis or consanguineous parents
- Ectropion (eyelid turning outward) or eclabium (lip turning outward)
- Impaired temperature regulation due to skin barrier dysfunction
- Recurrent skin infections and complications
- Previous inconclusive dermatological evaluations
Clinical Indications
Patients experiencing symptoms such as thick, plate-like scales, palmoplantar keratoderma, or alopecia should strongly consider genetic testing. Early diagnosis through this test can significantly impact treatment outcomes and quality of life.
Benefits of Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic confirmation of lamellar ichthyosis type 4
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Identifies carrier status for reproductive decision-making
- Prognostic Information: Helps predict disease severity and progression
- Early Intervention: Facilitates timely management strategies to prevent complications
- Genetic Counseling: Supports informed family discussions about inheritance patterns
Clinical Utility
The test results provide crucial information for dermatologists, geneticists, and other healthcare providers to develop comprehensive care plans, including appropriate topical treatments, systemic therapies, and multidisciplinary management approaches.
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identification of pathogenic mutations confirms diagnosis of lamellar ichthyosis type 4
- Negative Result: No disease-causing mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals with one mutated copy who are typically unaffected
Post-Test Guidance
All positive results include recommendations for:
- Specialized dermatological care and management strategies
- Genetic counseling for family members
- Regular monitoring for potential complications
- Support resources and patient education materials
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | LIPN Gene Ichthyosis Lamellar Type 4 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Dermatology, Genetics |
| Testing Method | Next Generation Sequencing (NGS) |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Easy Sample Collection
Sample collection is simple and can be performed at any of our partner facilities or through at-home collection kits with proper medical supervision. Our flexible sample options accommodate various patient needs and preferences.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your skin condition affect your quality of life. Our LIPN Gene Ichthyosis Lamellar Type 4 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can make informed decisions about your healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized treatment.
Our experienced genetic counselors and dermatology specialists are ready to guide you through the testing process and help you understand your results. Early genetic diagnosis can significantly improve treatment outcomes and quality of life for individuals with lamellar ichthyosis type 4.
