AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin Disorders
The AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics. This advanced next-generation sequencing test specifically targets mutations in the AAGAB gene, which plays a critical role in skin development and maintenance. Palmoplantar punctate keratoderma type 1A is a rare inherited condition characterized by distinctive thickened skin lesions on the palms of hands and soles of feet, often appearing as small, punctate keratotic papules.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis examines the complete coding region of the AAGAB gene to identify pathogenic variants responsible for palmoplantar punctate keratoderma type 1A. The test specifically detects:
- Point mutations and small insertions/deletions in the AAGAB gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Genetic variants that disrupt normal skin cell differentiation
- Inherited mutations following autosomal dominant patterns
- Novel mutations that may not be documented in existing databases
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing symptoms consistent with palmoplantar keratoderma, including:
- Multiple small, punctate keratotic lesions on palms and soles
- Progressive thickening of skin on hands and feet
- Family history of similar skin conditions
- Early-onset skin changes in childhood or adolescence
- Pain or discomfort during walking or manual activities
- Associated nail abnormalities or hyperhidrosis
- Individuals with uncertain diagnosis despite clinical examination
Significant Benefits of Genetic Testing
Undergoing the AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms genetic basis of skin symptoms
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Genetic Counseling: Provides comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your test results with clear clinical implications:
- Positive Result: Identifies pathogenic AAGAB gene mutation confirming diagnosis
- Negative Result: No mutation detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Important for family members and genetic counseling
All results include comprehensive genetic counseling to help you understand implications for your health and family members.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major cities including 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 results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your skin condition affect your quality of life. Our specialized genetic testing provides the answers you need for proper diagnosis and management. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert guidance necessary to make informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A NGS Genetic DNA Test and take control of your genetic health.
