USB1 Gene Poikiloderma with Neutropenia NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Inherited Disorder
The USB1 Gene Poikiloderma with Neutropenia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the USB1 gene, which is responsible for a rare autosomal recessive disorder characterized by distinctive skin changes, immune system deficiencies, and skeletal abnormalities. This comprehensive genetic analysis provides crucial insights for patients and families affected by this complex condition.
What Does This Test Measure?
Our advanced Next-Generation Sequencing (NGS) technology specifically targets and analyzes the USB1 gene to detect pathogenic variants that cause Poikiloderma with Neutropenia. The test examines:
- Point mutations, insertions, and deletions in the USB1 gene
- Genetic variations affecting RNA processing and stability
- Mutations that disrupt normal cellular function in multiple body systems
- Inheritance patterns to determine carrier status
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Skin Manifestations: Poikiloderma (mottled skin discoloration), photosensitivity, telangiectasias, and skin atrophy
- Immune System Issues: Recurrent infections, neutropenia (low neutrophil count), and susceptibility to bacterial infections
- Skeletal Abnormalities: Short stature, skeletal dysplasia, and bone development issues
- Family History: Individuals with family members diagnosed with Poikiloderma with Neutropenia or related genetic disorders
- Unexplained Symptoms: Patients with complex multi-system symptoms affecting skin, bones, and immune function
Key Benefits of USB1 Genetic Testing
- Definitive Diagnosis: Provides conclusive identification of USB1 gene mutations, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted management strategies for skin care, infection prevention, and skeletal monitoring
- Family Planning: Offers valuable information for genetic counseling and reproductive decision-making
- Early Intervention: Facilitates proactive management of potential complications before they become severe
- Comprehensive Care: Supports coordinated care between dermatologists, immunologists, and genetic specialists
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies specific USB1 gene mutations confirming diagnosis of Poikiloderma with Neutropenia
- Negative Result: No pathogenic variants detected in the USB1 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of the mutated gene without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | USB1 Gene Poikiloderma with Neutropenia 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 |
| Pre-test Requirements | Clinical History and Genetic Counseling Session |
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health hold you back. Our USB1 Gene Poikiloderma with Neutropenia NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of only $500 USD and comprehensive genetic analysis, you’ll receive the clarity necessary for proper diagnosis and management.
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.
Take control of your genetic health with the most advanced USB1 gene testing available. Early diagnosis and proper management can significantly improve quality of life for individuals affected by Poikiloderma with Neutropenia.
