ST14 Gene Ichthyosis Congenital Autosomal Recessive Type 11 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Skin Disorders
The ST14 Gene Ichthyosis Congenital Autosomal Recessive Type 11 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare dermatological conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the ST14 gene, which encodes matriptase—a critical serine protease essential for epidermal barrier function and skin development.
What This Test Measures and Detects
Our specialized NGS genetic test precisely analyzes the ST14 gene to identify pathogenic variants associated with autosomal recessive congenital ichthyosis type 11. The test examines:
- Complete coding regions of the ST14 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and structural rearrangements
- Specific mutations causing matriptase deficiency
- Autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This comprehensive DNA analysis is recommended for individuals presenting with:
- Neonates born with collodion membrane
- Persistent generalized scaling and erythroderma
- Family history of congenital ichthyosis
- Consanguineous parentage with skin disorder history
- Unexplained severe dermatological conditions in infancy
- Previous inconclusive dermatological evaluations
Clinical Benefits of ST14 Gene Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate molecular diagnosis confirming clinical suspicions
- Personalized treatment strategies based on genetic findings
- Comprehensive genetic counseling for family planning
- Early intervention opportunities for affected infants
- Clarification of inheritance patterns and recurrence risks
- Elimination of diagnostic uncertainty and unnecessary treatments
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your ST14 gene analysis:
- Positive Result: Identified pathogenic variants confirm autosomal recessive congenital ichthyosis type 11 diagnosis
- Negative Result: No detected mutations in ST14 gene, suggesting alternative genetic causes
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies for reproductive counseling
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Network
GGC DNA maintains comprehensive testing facilities across the United States, with specialized centers in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our certified genetic counselors and dermatology specialists ensure consistent, high-quality care regardless of location.
Schedule Your Genetic Evaluation Today
Take the first step toward definitive diagnosis and personalized care management. Our genetic testing specialists are available to discuss your specific concerns and coordinate comprehensive ST14 gene analysis. Contact us at +1(267) 388-9828 to schedule your genetic counseling session and arrange testing.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
