ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Skin Disorders
The ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare dermatological conditions. This specialized examination utilizes cutting-edge 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. Understanding these genetic variations is essential for accurate diagnosis, prognosis determination, and informed family planning decisions.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the ABCA12 gene, which encodes a protein crucial for proper lipid transport in the epidermis. The test detects:
- Pathogenic mutations in the ABCA12 gene associated with harlequin ichthyosis
- Genetic variations responsible for severe congenital ichthyosis
- Autosomal recessive inheritance patterns
- Specific nucleotide changes affecting lipid transporter function
- Deletion and insertion mutations impacting protein structure
Who Should Consider This Genetic Test?
This specialized diagnostic test is recommended for individuals presenting with:
- Newborns with severe skin abnormalities resembling thick, diamond-shaped plates
- Family history of harlequin ichthyosis or severe congenital skin disorders
- Previous pregnancies affected by severe skin conditions
- Couples with known carrier status for ABCA12 mutations
- Individuals with unexplained severe dermatological conditions
- Patients requiring definitive diagnosis for treatment planning
Clinical Symptoms and Indications
The ABCA12 gene test is particularly important when patients exhibit symptoms including:
- Severe skin thickening with deep fissures
- Diamond-shaped skin plates separated by erythematous cracks
- Ectropion (eyelid eversion) and eclabium (lip eversion)
- Respiratory distress due to chest plate restriction
- Impaired temperature regulation
- Increased susceptibility to infections
Benefits of ABCA12 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out harlequin ichthyosis with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Early Intervention: Facilitates prompt management strategies for affected newborns
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Treatment Planning: Guides appropriate dermatological and supportive care approaches
- Prognostic Information: Helps understand disease severity and potential outcomes
Understanding Your Test Results
Genetic test results require careful interpretation by qualified medical professionals:
- Positive Result: Indicates presence of pathogenic ABCA12 mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t exclude other genetic causes
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who are typically unaffected
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Prior to testing, patients must complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Family pedigree chart development
- Informed consent process
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized ABCA12 genetic testing provides the clarity and confidence needed for informed healthcare decisions. With advanced NGS technology and expert genetic counseling support, we deliver accurate, reliable results you can trust.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
