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DSG1 Gene Erythroderma Congenital with Palmoplantar Keratoderma Hypotrichosis and Hyper IgE Genetic Test

Original price was: $700.Current price is: $500.

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The DSG1 Gene Erythroderma Congenital NGS Genetic DNA Test is a comprehensive diagnostic tool that identifies mutations in the DSG1 gene associated with rare congenital skin disorders. This advanced next-generation sequencing test detects genetic variations responsible for erythroderma, palmoplantar keratoderma, hypotrichosis, and hyper IgE syndrome. The test provides crucial information for accurate diagnosis, enabling personalized treatment strategies and genetic counseling. With results available in 3-4 weeks, this $500 USD test offers valuable insights for patients and families affected by these complex dermatological conditions. The test requires blood or extracted DNA samples and includes pre-test genetic counseling for comprehensive patient care.

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DSG1 Gene Erythroderma Congenital with Palmoplantar Keratoderma Hypotrichosis and Hyper IgE NGS Genetic DNA Test

Comprehensive Genetic Testing for Rare Dermatological Conditions

The DSG1 Gene Erythroderma Congenital NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare inherited skin disorders. This specialized genetic test utilizes next-generation sequencing technology to analyze the DSG1 gene, which plays a critical role in skin cell adhesion and immune system regulation. Understanding your genetic profile can provide essential insights for managing complex dermatological conditions and planning appropriate treatment strategies.

What Does This Test Measure and Detect?

This advanced genetic test specifically targets mutations in the DSG1 (Desmoglein-1) gene, which encodes a crucial protein involved in maintaining skin integrity and immune function. The test detects:

  • Point mutations and single nucleotide variants in the DSG1 gene
  • Insertions and deletions affecting gene function
  • Genetic variations associated with congenital erythroderma
  • Mutations linked to palmoplantar keratoderma development
  • Genetic markers for hypotrichosis (reduced hair growth)
  • Variants contributing to hyper IgE syndrome manifestations

Who Should Consider This Genetic Test?

This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:

  • Newborns or infants with widespread erythroderma (red, inflamed skin)
  • Patients with thickened skin on palms and soles (palmoplantar keratoderma)
  • Individuals experiencing abnormal hair growth patterns or hair loss
  • Patients with recurrent skin infections and elevated IgE levels
  • Those with family history of similar dermatological conditions
  • Individuals with unexplained skin inflammation and immune dysfunction

Clinical Benefits of DSG1 Genetic Testing

Undergoing this comprehensive genetic analysis provides numerous clinical advantages:

  • Accurate Diagnosis: Confirms or rules out DSG1-related disorders with high 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 timely management of symptoms and complications
  • Prognostic Information: Helps predict disease progression and potential complications
  • Research Contribution: Contributes to scientific understanding of rare genetic skin disorders

Understanding Your Test Results

Your genetic test results will be carefully analyzed and interpreted by our expert genetic counselors and dermatologists. The report typically includes:

  • Positive Result: Indicates the presence of pathogenic mutations in the DSG1 gene, confirming the genetic basis of your symptoms
  • Negative Result: Suggests that DSG1 mutations are not responsible for your condition, guiding further diagnostic investigations
  • Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
  • Carrier Status: Determines if you carry a single copy of a mutated gene that could be passed to offspring

Our genetic counseling team will provide comprehensive guidance on understanding your results and their implications for your health management.

Test Pricing and Availability

Test Component Price (USD)
Discount Price $500
Regular Price $700

Nationwide Testing Availability

We proudly offer 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 and experienced genetic specialists ensure accurate and reliable testing results.

Take the Next Step Toward Genetic Clarity

If you or a family member are experiencing symptoms suggestive of DSG1-related disorders, don’t wait to get the answers you need. Our team of genetic specialists and dermatologists is ready to provide comprehensive testing and personalized guidance.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your DSG1 Gene Erythroderma Congenital NGS Genetic DNA Test. Take control of your genetic health and embark on the path to accurate diagnosis and effective management.