ALOX12B Gene Ichthyosis Congenital Autosomal Recessive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Skin Disorders
The ALOX12B Gene Ichthyosis Congenital Autosomal Recessive Type 2 NGS Genetic DNA Test represents a breakthrough in dermatological genetic testing, providing precise identification of mutations responsible for congenital ichthyosis. This advanced diagnostic tool utilizes next-generation sequencing technology to analyze the ALOX12B gene, which plays a critical role in skin barrier function and lipid metabolism. Understanding your genetic predisposition to this condition enables proactive management and personalized treatment strategies.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets:
- Mutations in the ALOX12B gene associated with autosomal recessive congenital ichthyosis type 2
- Pathogenic variants affecting arachidonate 12-lipoxygenase enzyme function
- Genetic markers for severe scaling skin disorders present from birth
- Inheritance patterns confirming autosomal recessive transmission
- Specific nucleotide changes impacting epidermal differentiation
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Persistent, severe skin scaling present from birth or early infancy
- Family history of congenital ichthyosis or similar skin disorders
- Collodion membrane at birth that persists or evolves into scaling
- Ectropion (eyelid eversion) or eclabium (lip eversion) associated with skin tightness
- Recurrent skin infections due to compromised barrier function
- Heat intolerance and impaired sweating mechanism
- Previous inconclusive dermatological evaluations
Significant Benefits of Genetic Testing
Undergoing the ALOX12B gene analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of ichthyosis
- Family Planning Guidance: Identifies carrier status and inheritance risks
- Personalized Treatment: Enables targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and severity
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
- Research Contribution: Advances understanding of genetic skin disorders
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic mutations confirming diagnosis of autosomal recessive congenital ichthyosis type 2
- Negative Result: No detected mutations in ALOX12B gene, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps. Our certified genetic counselors provide detailed explanations and support for result interpretation.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Dermatology and Genetics
- Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Accessibility
GGC DNA maintains testing facilities across the United States, ensuring convenient access to this advanced genetic analysis. Our branches serve major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Each location provides comprehensive genetic counseling services and professional sample collection.
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary skin conditions affect your quality of life. The ALOX12B Gene Ichthyosis Test provides definitive answers and empowers informed healthcare decisions. Our team of genetic specialists and dermatologists are ready to support you through every step of the testing process.
Schedule your genetic counseling session and test appointment today by calling +1(267) 388-9828 or booking online through our secure patient portal. Take the first step toward understanding your genetic makeup and optimizing your dermatological care.
