PTPRC Gene Severe Combined Immunodeficiency T Cell-Negative B-Cell/Natural Killer-Cell Positive NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Combined Immunodeficiency
The PTPRC Gene Severe Combined Immunodeficiency Test represents a breakthrough in genetic diagnostics for rare immune disorders. This advanced Next-Generation Sequencing (NGS) analysis specifically targets mutations in the PTPRC gene, which plays a critical role in immune system development and function. Severe Combined Immunodeficiency (SCID) is a life-threatening condition characterized by profound defects in both cellular and humoral immunity, making early detection through genetic testing essential for patient survival and quality of life.
What This Test Measures and Detects
Our comprehensive NGS genetic DNA test specifically analyzes:
- Mutations in the PTPRC gene encoding CD45 protein
- T-cell negative, B-cell/natural killer-cell positive SCID variants
- Genetic abnormalities affecting lymphocyte development and function
- Specific molecular defects causing immune system compromise
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Test
This genetic screening is recommended for individuals presenting with:
- Recurrent, severe infections from infancy
- Failure to thrive and growth delays
- Persistent diarrhea and gastrointestinal issues
- Autoimmune manifestations and inflammatory conditions
- Family history of immunodeficiency disorders
- Unexplained chronic skin conditions and dermatological issues
- Abnormal lymphocyte counts and immune cell profiles
Key Benefits of PTPRC Gene Testing
- Early Diagnosis: Enables prompt intervention before irreversible complications develop
- Personalized Treatment: Guides targeted therapeutic approaches including hematopoietic stem cell transplantation
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Comprehensive Analysis: Utilizes advanced NGS technology for maximum detection accuracy
- Expert Interpretation: Results reviewed by board-certified genetic specialists
Understanding Your Test Results
Our comprehensive report provides detailed interpretation of your genetic findings:
- Positive Result: Indicates presence of PTPRC gene mutation associated with SCID, requiring immediate specialist consultation
- Negative Result: Suggests absence of tested mutations but may require additional testing based on clinical presentation
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Determines inheritance risk for future generations
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Immunology Genetics
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Testing Availability
We have diagnostic centers across major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent quality and reliable results nationwide.
Take Action for Better Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Early detection of PTPRC gene mutations can significantly improve outcomes for individuals with severe combined immunodeficiency. Our expert team is ready to guide you through the testing process and provide comprehensive support.
Book your test today or call our genetic specialists at +1(267) 388-9828 for personalized consultation and immediate scheduling.
