POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin Disorders
The POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics. This advanced test specifically targets mutations in the POMP (Proteasome Maturation Protein) gene, which plays a critical role in proteasome assembly and protein degradation processes essential for maintaining healthy skin integrity.
What Does This Test Measure and Detect?
Our sophisticated NGS-based genetic analysis detects specific mutations in the POMP gene that are responsible for:
- Keratosis linearis manifestations characterized by linear patterns of skin thickening
- Ichthyosis congenita presenting as severe scaling and dryness from birth
- Sclerosing keratoderma involving progressive skin hardening and thickening
- Autosomal recessive inheritance patterns affecting multiple family members
- Specific nucleotide variations and structural changes in the POMP gene sequence
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals experiencing:
- Linear patterns of skin thickening and scaling present from birth or early childhood
- Severe congenital ichthyosis that doesn’t respond to conventional treatments
- Progressive sclerosing keratoderma affecting palms and soles
- Family history of similar skin conditions across multiple generations
- Unexplained skin disorders with suspected genetic origins
- Patients with consanguineous parents or affected siblings
Clinical Benefits of POMP Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out POMP-related disorders with precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management strategies for better outcomes
- Differential Diagnosis: Helps distinguish between similar appearing skin conditions
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates identified POMP gene mutations consistent with clinical diagnosis
- Negative Result: Suggests absence of tested POMP mutations, though other genetic factors may be involved
- Variant of Uncertain Significance: Requires additional clinical correlation and family studies
- Carrier Status: Identifies individuals carrying one copy of mutated gene without symptoms
All results are accompanied by detailed explanations and recommendations for next steps, including consultation with genetic specialists and dermatologists for comprehensive care planning.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 USD |
| Regular Price | $700 USD |
Nationwide Testing Availability
We have established testing facilities across major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing centers ensures convenient access to this specialized diagnostic service regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your skin condition persist. Our POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD (regularly $700 USD), comprehensive genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
