CD46 Gene Hemolytic Uremic Syndrome Atypical Type 2 Susceptibility NGS Genetic DNA Test
Understanding Atypical Hemolytic Uremic Syndrome and CD46 Gene Testing
Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening genetic disorder that primarily affects kidney function. Unlike typical HUS, which is often triggered by bacterial infections, atypical HUS results from genetic mutations that cause uncontrolled activation of the complement system – a crucial part of the immune system. The CD46 gene plays a vital role in regulating this complement system, and mutations in this gene are specifically associated with atypical HUS type 2.
What Does This Genetic Test Measure?
Our advanced NGS Genetic DNA Test specifically analyzes the CD46 gene for mutations that predispose individuals to atypical hemolytic uremic syndrome type 2. The test examines:
- Complete CD46 gene sequencing using next-generation sequencing technology
- Identification of known pathogenic variants associated with aHUS
- Detection of novel mutations that may impact complement regulation
- Assessment of genetic susceptibility to thrombotic microangiopathy
Who Should Consider CD46 Genetic Testing?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained kidney failure or acute kidney injury
- Recurrent episodes of hemolytic anemia
- Persistent thrombocytopenia (low platelet count)
- Family history of atypical HUS or similar kidney disorders
- Multiple family members with kidney disease of unknown origin
- Patients with thrombotic microangiopathy without clear cause
- Children or adults with atypical presentations of HUS
Clinical Symptoms That May Indicate Need for Testing
Patients with the following symptoms should consider CD46 genetic testing:
- Fatigue and weakness due to anemia
- Decreased urine output or dark-colored urine
- Swelling in legs, ankles, or around eyes
- High blood pressure
- Bruising or bleeding tendencies
- Neurological symptoms like confusion or seizures
Benefits of CD46 Genetic DNA Testing
Early genetic testing for CD46 mutations offers numerous advantages:
- Early Diagnosis: Enables prompt identification of genetic predisposition before severe symptoms develop
- Personalized Treatment: Guides targeted therapies including complement inhibitors
- Family Planning: Provides crucial information for genetic counseling and family decisions
- Preventive Care: Allows for monitoring and early intervention in at-risk individuals
- Avoid Unnecessary Treatments: Helps distinguish aHUS from other similar conditions
- Improved Outcomes: Early intervention can prevent permanent kidney damage
Understanding Your Test Results
Your CD46 genetic test results will fall into one of several categories:
- Positive for Pathogenic Mutation: Indicates increased susceptibility to atypical HUS type 2, requiring specialized medical management and family screening
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is not yet fully understood, requiring ongoing monitoring
- Negative Result: No known pathogenic mutations detected, though other genetic factors may still contribute to disease risk
- Carrier Status: Important information for family planning and genetic counseling
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CD46 Gene Hemolytic Uremic Syndrome Atypical Type 2 Susceptibility NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 undergoing CD46 genetic testing, patients should provide:
- Complete clinical history related to kidney function and hematological disorders
- Participation in genetic counseling session to create family pedigree chart
- Documentation of affected family members with similar symptoms
- Current medication list and previous treatment history
Nationwide Availability Across USA
We have diagnostic centers conveniently located in all major cities across the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate testing and professional service.
Take Control of Your Genetic Health Today
Don’t wait for symptoms to worsen. Early detection of CD46 gene mutations can significantly impact treatment outcomes and quality of life. Our comprehensive genetic testing provides the answers you need to make informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CD46 genetic test and genetic counseling session. Our expert team is ready to guide you through the testing process and help you understand your results.
Book your appointment now and take the first step toward understanding your genetic predisposition to atypical hemolytic uremic syndrome. Early detection saves lives and preserves kidney function.
