SPTB Gene Spherocytosis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spherocytosis
The SPTB Gene Spherocytosis Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying hereditary spherocytosis, a genetic blood disorder affecting red blood cell structure and function. This sophisticated genetic analysis utilizes next-generation sequencing technology to detect mutations in the SPTB gene, which encodes beta-spectrin – a crucial protein component of the red blood cell membrane skeleton.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the SPTB gene located on chromosome 14q23.3. The test identifies:
- Point mutations, deletions, and insertions in the SPTB gene
- Pathogenic variants affecting beta-spectrin production
- Genetic alterations responsible for membrane skeleton instability
- Inheritance patterns of hereditary spherocytosis type 2
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained hemolytic anemia with spherical red blood cells
- Chronic jaundice or elevated bilirubin levels
- Enlarged spleen (splenomegaly) without clear cause
- Family history of hereditary spherocytosis or similar blood disorders
- Gallstones at a young age
- Fatigue, pallor, or exercise intolerance related to anemia
- Positive family history requiring genetic confirmation
Clinical Benefits of SPTB Genetic Testing
Undergoing the SPTB Gene Spherocytosis Type 2 test provides numerous advantages:
- Definitive Diagnosis: Confirms hereditary spherocytosis type 2 with genetic evidence
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Helps determine appropriate management strategies
- Prognostic Information: Provides insights into disease severity and progression
- Early Intervention: Facilitates timely treatment before complications develop
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and hematologists:
- Positive Result: Indicates the presence of pathogenic SPTB gene mutation confirming hereditary spherocytosis type 2
- Negative Result: Suggests absence of detectable SPTB mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SPTB Gene Spherocytosis Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| SPTB Gene Spherocytosis Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary blood disorders affect your quality of life. The SPTB Gene Spherocytosis Type 2 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. Our experienced genetic counselors are available to discuss your results and provide comprehensive guidance.
Book your genetic test today by calling +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
