Atypical Hemolytic Uremic Syndrome Panel NGS Genetic DNA Test
Understanding Atypical Hemolytic Uremic Syndrome (aHUS)
Atypical Hemolytic Uremic Syndrome is a rare, life-threatening condition characterized by the triad of hemolytic anemia, thrombocytopenia, and acute kidney injury. Unlike typical HUS, which is often triggered by bacterial infections, aHUS results from genetic mutations affecting the complement system – a crucial part of our immune defense. This comprehensive genetic panel utilizes next-generation sequencing technology to identify mutations in genes responsible for regulating the complement pathway, providing essential diagnostic clarity for patients and healthcare providers.
What This Advanced Genetic Test Measures
Our NGS panel analyzes 20 critical genes associated with complement regulation and aHUS pathogenesis:
- Complement factor genes: CFH, CFI, CFB, C3
- Membrane cofactor protein genes: CD46, CD59
- Complement factor H-related genes: CFHR1, CFHR2, CFHR3, CFHR5
- Thrombomodulin gene: THBD
- Additional relevant genes: ADAMTS13, DGKE, INF2, MMACHC, MMUT, PIGA, PLG, CR1, CR2
This comprehensive analysis helps identify both inherited and de novo mutations that disrupt normal complement regulation, leading to uncontrolled activation and damage to blood vessels and organs.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly important for individuals presenting with:
- Unexplained acute kidney injury or renal failure
- Microangiopathic hemolytic anemia without clear cause
- Thrombocytopenia with schistocytes on blood smear
- Family history of aHUS or complement-mediated disorders
- Recurrent episodes of thrombotic microangiopathy
- Poor response to plasma exchange therapy
- Suspected genetic predisposition to complement dysregulation
Significant Benefits of Genetic Testing for aHUS
Undergoing this comprehensive genetic analysis provides multiple advantages:
- Definitive Diagnosis: Confirms or rules out genetic causes of aHUS
- Personalized Treatment: Guides targeted therapies including complement inhibitors
- Family Risk Assessment: Identifies inheritance patterns and family member risks
- Prognostic Information: Helps predict disease course and recurrence risk
- Therapeutic Decision Support: Informs choices between plasma exchange, eculizumab, or other treatments
- Reproductive Planning: Provides information for family planning decisions
Understanding Your Test Results
Your genetic test report will provide detailed information about identified variants:
- Pathogenic Variants: Clearly identified mutations known to cause aHUS
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical impact
- Benign Variants: Common genetic variations not associated with disease
- Inheritance Pattern: Information about autosomal dominant or recessive inheritance
All results are accompanied by comprehensive interpretation and recommendations from our genetic specialists. We strongly recommend genetic counseling to fully understand your results and their implications for you and your family.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | Atypical Hemolytic Uremic Syndrome Panel NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $750 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled
- Pedigree chart of family members affected with related conditions
- Relevant medical records and previous test results
Nationwide Accessibility
We have testing facilities conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures you can access this crucial genetic testing regardless of your location.
Take Action for Your Health Today
Don’t let uncertainty about aHUS diagnosis delay proper treatment. Our comprehensive genetic panel provides the answers you need to make informed healthcare decisions. Early genetic identification can significantly impact treatment outcomes and prevent long-term kidney damage.
Ready to schedule your test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our team is available to discuss your testing needs, answer questions about the process, and help you schedule your appointment at a location convenient for you. Take the first step toward definitive diagnosis and personalized treatment planning.
