STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 NGS Genetic DNA Test
Understanding Hemophagocytic Lymphohistiocytosis Type 5
Hemophagocytic lymphohistiocytosis (HLH) Type 5 is a rare, life-threatening genetic disorder affecting the immune system’s regulation. This condition results from mutations in the STXBP2 gene, which plays a crucial role in controlling immune cell function and preventing excessive inflammation. When the STXBP2 gene is defective, immune cells become overactive, leading to uncontrolled inflammation that can damage multiple organs including the liver, spleen, and bone marrow.
What Our Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically analyzes the STXBP2 gene to identify pathogenic mutations responsible for HLH Type 5. The test examines:
- Complete coding regions of the STXBP2 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and large deletions
- Point mutations and small insertions/deletions
Clinical Indications and Who Should Consider Testing
This genetic test is recommended for individuals presenting with:
- Unexplained persistent fever lasting more than 7 days
- Enlarged spleen (splenomegaly) or liver (hepatomegaly)
- Low blood cell counts (cytopenias) affecting multiple cell lines
- Elevated inflammatory markers (ferritin, triglycerides)
- Family history of HLH or immune disorders
- Recurrent infections or unusual inflammatory responses
- Neurological symptoms in combination with immune abnormalities
Key Benefits of Early Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms HLH Type 5 and differentiates from other immune disorders
- Family Planning: Enables genetic counseling for family members and future pregnancies
- Timely Treatment: Allows early intervention with appropriate therapies
- Improved Outcomes: Early treatment significantly improves survival rates
- Preventive Care: Identifies at-risk family members before symptom onset
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates a pathogenic mutation in the STXBP2 gene, confirming HLH Type 5 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if you carry one copy of the mutated gene
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
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, and San Jose. Our state-of-the-art genetic testing facilities ensure accurate and reliable results with comprehensive genetic counseling support.
Take Control of Your Health Today
Don’t wait to get the answers you need about your genetic health. Early detection of HLH Type 5 can be life-saving. Our experienced genetic counselors are available to discuss your results and provide personalized guidance. Contact us today to schedule your genetic test and take the first step toward understanding your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 NGS Genetic DNA Test today!
