EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spherocytosis
The EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary blood disorders. This advanced test specifically targets mutations in the EPB42 gene, which encodes protein 4.2 – a crucial component of the red blood cell membrane cytoskeleton. When this protein is deficient or dysfunctional, it leads to hereditary spherocytosis type 5, characterized by spherical-shaped red blood cells that are fragile and prone to premature destruction.
What Does This Test Measure?
This comprehensive genetic analysis utilizes Next Generation Sequencing (NGS) technology to examine the entire coding region of the EPB42 gene for pathogenic variants. The test specifically detects:
- Point mutations in the EPB42 gene sequence
- Small insertions and deletions affecting protein function
- Splice site mutations that disrupt normal gene expression
- Copy number variations affecting the EPB42 gene
- Novel genetic variants with potential clinical significance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of hereditary spherocytosis or those with a family history of the condition. Key indications include:
- Chronic hemolytic anemia of unknown origin
- Persistent jaundice or elevated bilirubin levels
- Enlarged spleen (splenomegaly)
- Gallstones at a young age
- Family history of hereditary spherocytosis
- Unexplained fatigue and weakness
- Positive osmotic fragility test results
- Planning for pregnancy with family history of blood disorders
Clinical Benefits of EPB42 Genetic Testing
Undergoing the EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms hereditary spherocytosis type 5 with molecular precision
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides appropriate management strategies including splenectomy considerations
- Prognostic Information: Helps predict disease severity and progression
- Differential Diagnosis: Distinguishes between different types of hereditary spherocytosis
- Early Intervention: Facilitates timely management to prevent complications
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors. The report typically includes:
- Positive Result: Indicates the presence of pathogenic EPB42 gene mutations confirming hereditary spherocytosis type 5 diagnosis
- Negative Result: Suggests absence of detectable EPB42 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | EPB42 Gene Spherocytosis 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 |
| Testing Method | Next Generation Sequencing (NGS) |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to hematological symptoms
- Participation in genetic counseling session
- Family pedigree chart documenting affected relatives
- Informed consent for genetic testing
Nationwide Testing Availability
We have conveniently located testing centers 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 many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
If you suspect hereditary spherocytosis or have a family history of blood disorders, the EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test provides definitive answers. Our team of hematologists and genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
