ABCA12 Gene Ichthyosis Lamellar Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Skin Disorders
The ABCA12 Gene Ichthyosis Lamellar Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited skin conditions. This advanced genetic test utilizes next-generation sequencing technology to identify mutations in the ABCA12 gene, which plays a critical role in lipid transport within the skin’s outermost layer. When this gene malfunctions, it leads to lamellar ichthyosis type 2, a severe autosomal recessive disorder characterized by life-long skin scaling and compromised barrier function.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the ABCA12 gene to identify pathogenic variants responsible for lamellar ichthyosis type 2. The test examines:
- Complete coding regions of the ABCA12 gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with severe skin scaling disorders
- Novel mutations that may contribute to disease manifestation
- Both homozygous and compound heterozygous mutations
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Persistent, large plate-like scales covering the entire body
- Collodion membrane at birth that sheds within first few weeks
- Severe erythroderma (redness) and skin inflammation
- Ectropion (eyelid turning outward) and eclabium (lip eversion)
- Family history of similar skin conditions
- Consanguineous parentage with suspected autosomal recessive inheritance
- Unexplained severe skin scaling disorders unresponsive to conventional treatments
Clinical Benefits of Genetic Testing
Undergoing the ABCA12 Gene Ichthyosis Lamellar Type 2 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms genetic basis of skin condition, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic mutations
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Prognostic Information: Helps predict disease severity and potential complications
- Research Contribution: Advances understanding of rare genetic skin disorders
- Psychological Relief: Reduces anxiety by providing clear answers about condition origin
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ABCA12 gene analysis:
- Positive Result: Identifies pathogenic mutations confirming lamellar ichthyosis type 2 diagnosis
- Negative Result: No ABCA12 mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results include detailed clinical interpretation by board-certified genetic specialists, with recommendations for management and follow-up care.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Pre-test Requirements: Clinical history and genetic counseling session
Nationwide Testing Availability
We have diagnostic centers 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, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your skin condition continue. Our ABCA12 Gene Ichthyosis Lamellar Type 2 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.
