SLURP1 Gene Mal de Meleda NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin Disorders
The SLURP1 Gene Mal de Meleda NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare dermatological conditions. Mal de Meleda, also known as keratosis palmoplantaris transgrediens, is an autosomal recessive skin disorder characterized by progressive palmoplantar keratoderma that extends beyond the palms and soles. This advanced genetic test utilizes cutting-edge Next-Generation Sequencing technology to provide definitive diagnosis and comprehensive genetic insights for patients and families affected by this rare condition.
What Does the SLURP1 Gene Test Measure?
This specialized genetic test specifically targets the SLURP1 (Secreted Ly-6/uPAR-Related Protein 1) gene, which plays a crucial role in skin development and maintenance. The test detects:
- Pathogenic mutations in the SLURP1 gene on chromosome 8q24.3
- Single nucleotide variants (SNVs) and small insertions/deletions
- Autosomal recessive inheritance patterns
- Genetic variants associated with progressive palmoplantar keratoderma
- Mutations affecting the Ly-6/uPAR protein domain family
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with specific clinical symptoms or family history:
- Patients with progressive thickening of skin on palms and soles
- Individuals exhibiting transgrediens pattern (extension beyond palms/soles)
- Those with associated nail abnormalities and hyperhidrosis
- Patients with family history of Mal de Meleda or consanguineous parents
- Individuals from geographic regions with higher prevalence (Adriatic islands)
- Patients with suspected autosomal recessive inheritance patterns
Clinical Benefits of SLURP1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms Mal de Meleda diagnosis with molecular precision
- Genetic Counseling: Enables accurate family planning and recurrence risk assessment
- Personalized Treatment: Guides targeted dermatological management strategies
- Early Intervention: Facilitates proactive symptom management and care planning
- Family Screening: Identifies carriers and at-risk family members
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming Mal de Meleda diagnosis
- Carrier Status: Detects heterozygous mutations indicating carrier state
- Negative Result: No pathogenic variants detected in the SLURP1 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation
All results are accompanied by detailed clinical interpretation and genetic counseling recommendations to help you and your healthcare provider make informed decisions about your care.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, Milwaukee, Albuquerque, Tucson, Fresno, Sacramento, Kansas City, Long Beach, Mesa, Atlanta, Colorado Springs, Virginia Beach, Raleigh, Omaha, Miami, Oakland, Minneapolis, Tulsa, Wichita, New Orleans, and Arlington.
Take the Next Step in Your Genetic Health Journey
Don’t let uncertainty about your genetic health hold you back. Our SLURP1 Gene Mal de Meleda NGS Genetic DNA Test provides the clarity and confidence you need to make informed healthcare decisions. With our advanced NGS technology and expert genetic analysis, you’ll receive comprehensive insights into your genetic makeup and potential health risks.
Call us today at +1(267) 388-9828 to schedule your genetic test consultation or book your appointment online. Our genetic counselors and healthcare professionals are ready to guide you through every step of the testing process and help you understand your results.
Take control of your genetic health today with the most advanced SLURP1 genetic testing available. Early detection and accurate diagnosis can significantly improve your quality of life and help you access the most effective treatment options for managing Mal de Meleda symptoms.
