CASP10 Gene Autoimmune Lymphoproliferative Syndrome Type 2A NGS Genetic DNA Test
Understanding Autoimmune Lymphoproliferative Syndrome Type 2A
Autoimmune lymphoproliferative syndrome type 2A (ALPS type 2A) is a rare genetic disorder affecting the immune system’s ability to regulate lymphocyte apoptosis (programmed cell death). This condition results from mutations in the CASP10 gene, which plays a critical role in the Fas-mediated apoptotic pathway. When this pathway is disrupted, lymphocytes fail to undergo normal cell death, leading to chronic lymphadenopathy, splenomegaly, and increased risk of autoimmune complications.
What This Test Measures and Detects
The CASP10 Gene Autoimmune Lymphoproliferative Syndrome Type 2A NGS Genetic DNA Test utilizes advanced next-generation sequencing technology to comprehensively analyze the entire CASP10 gene. This sophisticated testing approach detects:
- Point mutations in the CASP10 gene coding regions
- Small insertions and deletions affecting gene function
- Splice site mutations that disrupt normal protein production
- Genetic variants associated with impaired apoptosis signaling
- Pathogenic mutations linked to ALPS type 2A development
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Chronic, non-malignant lymphadenopathy (swollen lymph nodes)
- Persistent splenomegaly (enlarged spleen) without clear cause
- Autoimmune manifestations including cytopenias (low blood cell counts)
- Unexplained recurrent infections or immune dysregulation
- Family history of autoimmune lymphoproliferative disorders
- Diagnostic uncertainty in patients with immune system abnormalities
- Children or adults with suspected inherited immune deficiencies
Benefits of Genetic Testing for CASP10 Mutations
Undergoing the CASP10 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out ALPS type 2A with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Monitoring: Allows for early intervention and regular surveillance
- Differential Diagnosis: Helps distinguish ALPS from other immune disorders
- Research Contribution: Advances understanding of rare genetic immune conditions
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Identification of a known pathogenic mutation in the CASP10 gene confirms the diagnosis of ALPS type 2A. This result requires comprehensive medical management and genetic counseling.
- Negative Result: No pathogenic mutations detected, which may help exclude ALPS type 2A as a diagnosis, though clinical correlation remains essential.
- Variant of Uncertain Significance (VUS): Detection of genetic changes with unknown clinical impact requires further evaluation and possibly family studies.
- Carrier Status: Identification of mutations in individuals without symptoms who may pass the condition to offspring.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
General Genetics Corporation provides comprehensive genetic testing services across the United States. We have established branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our nationwide network ensures accessible genetic testing for patients throughout the country.
Book Your Genetic Test Today
Take the first step toward understanding your genetic health. Our expert genetic counselors and medical professionals are ready to assist you with the CASP10 Gene Autoimmune Lymphoproliferative Syndrome Type 2A NGS Genetic DNA Test. Contact us today to schedule your appointment or learn more about this crucial diagnostic tool.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team will guide you through the testing process, answer your questions, and help you understand how genetic testing can provide valuable insights into your health condition. Don’t wait to get the answers you need for proper diagnosis and treatment planning.
