SH2D1A Gene Lymphoproliferative Syndrome X-Linked Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Immune Disorders
The SH2D1A Gene Lymphoproliferative Syndrome X-Linked Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited immune system disorders. This advanced test specifically targets mutations in the SH2D1A gene, which plays a critical role in regulating immune cell function and preventing uncontrolled lymphocyte proliferation.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis examines the entire coding region of the SH2D1A gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Frameshift mutations affecting protein function
- Splice site variants impacting gene expression
- Missense and nonsense mutations
The test utilizes next-generation sequencing technology to provide high-resolution analysis of genetic variations associated with X-linked lymphoproliferative disease type 1 (XLP1), a rare but serious condition affecting immune regulation.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Family history of X-linked lymphoproliferative disorders
- Recurrent or severe Epstein-Barr virus infections
- Unexplained hemophagocytic lymphohistiocytosis (HLH)
- Persistent lymphadenopathy or splenomegaly
- Hypogammaglobulinemia or immune deficiency
- Developed lymphoma at a young age
- Unexplained fever syndromes
- Maternal family history of immune disorders
Critical Benefits of Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the SH2D1A genetic test provides numerous benefits:
- Accurate Diagnosis: Confirms or rules out XLP1 with high precision
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Treatment Guidance: Informs targeted therapeutic approaches
- Risk Assessment: Identifies at-risk family members
- Peace of Mind: Provides clarity for uncertain clinical presentations
Understanding Your Test Results
Interpretation and Clinical Implications
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies a pathogenic mutation in the SH2D1A gene, confirming XLP1 diagnosis and requiring specialized hematology care
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Important for female relatives in X-linked inheritance patterns
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SH2D1A Gene Lymphoproliferative Syndrome X-Linked Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| SH2D1A Gene Lymphoproliferative Syndrome X-Linked Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have comprehensive testing facilities 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 numerous other locations. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited immune disorders affect your quality of life. Our SH2D1A genetic test provides the clarity needed for proper diagnosis and management of X-linked lymphoproliferative syndrome. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
