SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spherocytosis
The SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary hemolytic anemias. This advanced genetic screening utilizes next-generation sequencing (NGS) technology to identify specific mutations in the SPTA1 gene, which encodes the alpha-spectrin protein crucial for maintaining red blood cell membrane integrity and structural stability.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets and sequences the entire SPTA1 gene to identify pathogenic variants responsible for hereditary spherocytosis type 3. The test detects:
- Point mutations, insertions, and deletions in the SPTA1 gene
- Autosomal recessive inheritance patterns
- Specific genetic variants affecting spectrin protein production
- Mutations leading to defective red blood cell membrane structure
- Genetic markers associated with varying disease severity
Who Should Consider This Genetic Test
This comprehensive genetic screening is recommended for individuals presenting with:
- Unexplained hemolytic anemia symptoms
- Chronic jaundice or elevated bilirubin levels
- Family history of hereditary spherocytosis
- Recurrent gallstones at a young age
- Splenomegaly (enlarged spleen) without clear cause
- Abnormal red blood cell morphology on peripheral smear
- Positive osmotic fragility test results
- Planning for pregnancy with family history of blood disorders
Significant Benefits of Genetic Testing
Undergoing the SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms hereditary spherocytosis type 3 with molecular precision
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides appropriate therapeutic interventions and monitoring
- Prognostic Information: Helps predict disease severity and progression
- Early Intervention: Facilitates timely management of complications
- Genetic Counseling: Provides comprehensive family risk assessment
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of SPTA1 gene mutations confirming hereditary spherocytosis type 3 diagnosis
- Negative Result: Suggests absence of detectable SPTA1 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single gene copy mutations who may pass the condition to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SPTA1 Gene Spherocytosis Type 3 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) Technology |
Pre-Test Requirements
Before scheduling your genetic test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary blood disorders affect your quality of life. The SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of hematology genetics specialists and certified genetic counselors are ready to guide you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive answers about your hereditary health.
Book your SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test now and receive comprehensive genetic insights with our advanced next-generation sequencing technology. Our dedicated team ensures confidential, accurate, and timely results to support your healthcare journey.
