DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skin Fragility Disorders
The DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited skin conditions. This advanced genetic test utilizes next-generation sequencing technology to identify specific mutations in the DST gene, which plays a crucial role in maintaining skin integrity and structural stability.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the DST (dystonin) gene, which encodes essential proteins for maintaining the structural integrity of skin cells. The test identifies:
- Pathogenic variants and mutations in the DST gene
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with epidermolysis bullosa simplex type 2
- Novel variants that may contribute to disease manifestation
- Carrier status for family planning purposes
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Unexplained skin blistering and fragility from minor trauma
- Family history of epidermolysis bullosa or similar skin disorders
- Suspected inherited skin conditions with autosomal recessive patterns
- Diagnostic uncertainty regarding skin fragility syndromes
- Planning for family and genetic counseling needs
- Children presenting with congenital skin abnormalities
Clinical Symptoms and Indications
Patients with DST gene mutations typically present with characteristic symptoms including mechanical skin fragility, blister formation following minimal friction, nail dystrophy, mucosal involvement, and in severe cases, extracutaneous manifestations affecting multiple organ systems. Early diagnosis through genetic testing enables proactive management and specialized care.
Benefits of Genetic Testing
Accurate Diagnosis and Personalized Care
Genetic testing provides definitive diagnosis, eliminating diagnostic uncertainty and enabling targeted treatment strategies. Understanding the specific genetic mutation allows healthcare providers to develop personalized care plans that address individual patient needs and potential complications.
Family Planning and Genetic Counseling
This test offers invaluable information for family planning decisions, allowing couples to understand inheritance risks and make informed reproductive choices. Genetic counseling based on test results provides comprehensive guidance for managing familial risks.
Advanced Treatment Planning
With precise genetic information, medical teams can implement proactive management strategies, anticipate potential complications, and coordinate multidisciplinary care involving dermatologists, geneticists, and specialized wound care professionals.
Understanding Your Test Results
Interpretation Guidelines
Test results are carefully analyzed and interpreted by our team of certified genetic specialists. Positive results indicating pathogenic DST gene mutations confirm the diagnosis of epidermolysis bullosa simplex autosomal recessive type 2. Negative results significantly reduce the likelihood of this specific genetic disorder, though additional testing may be recommended based on clinical presentation.
Genetic Counseling Session
All patients receive comprehensive genetic counseling to understand their results, discuss implications for family members, and develop appropriate management strategies. Our genetic counselors create detailed pedigree charts to visualize inheritance patterns and assess familial risks.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Dermatology Genetics |
Pre-Test Requirements
Before testing, patients must provide complete clinical history related to suspected epidermolysis bullosa symptoms. A mandatory genetic counseling session is conducted to create detailed family pedigree charts and discuss testing implications. This comprehensive approach ensures optimal test interpretation and patient understanding.
Nationwide Testing Availability
We proudly offer this advanced genetic testing service across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper care and management. Our specialized genetic testing provides the answers you need for informed medical decisions and personalized treatment planning. Contact our genetic specialists today to schedule your test and begin your journey toward genetic clarity.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 NGS Genetic DNA Test today.
Our compassionate healthcare professionals are ready to guide you through the testing process, answer your questions, and provide the comprehensive genetic insights necessary for optimal health management and family planning decisions.
