SEC23B Gene Anemia Dyserythropoietic Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Anemia Disorders
The SEC23B Gene Anemia Dyserythropoietic Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited blood disorders. This advanced genetic test specifically targets mutations in the SEC23B gene, which plays a critical role in protein transport within cells and is essential for proper red blood cell development. Congenital dyserythropoietic anemia type II (CDA II) is a rare autosomal recessive disorder characterized by ineffective erythropoiesis, leading to chronic anemia and various hematological complications.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the SEC23B gene to identify:
- Point mutations, insertions, and deletions in the SEC23B gene
- Pathogenic variants associated with CDA II
- Compound heterozygous mutations
- Novel genetic variants with clinical significance
- Inheritance patterns for family planning purposes
The SEC23B gene encodes a crucial component of the COPII coat complex involved in endoplasmic reticulum-to-Golgi transport. Mutations disrupt this process, leading to abnormal erythroid precursor maturation and the characteristic morphological abnormalities seen in CDA II.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained chronic anemia unresponsive to conventional treatments
- Family history of congenital dyserythropoietic anemia
- Jaundice and splenomegaly of unknown origin
- Abnormal red blood cell morphology on peripheral smear
- Increased serum bilirubin levels
- Iron overload despite normal hemoglobin levels
- Consanguineous parentage with hematological abnormalities
- Previous inconclusive bone marrow examinations
Clinical Benefits of SEC23B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CDA II with high accuracy
- Personalized Treatment: Guides appropriate therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insights: Helps predict disease progression and complications
- Early Intervention: Enables timely management of associated conditions
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and procedures
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming CDA II diagnosis
- Negative Result: No detected mutations in the SEC23B gene
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals with single mutation copies
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic specialists. Genetic counseling is strongly recommended to fully understand the implications of your test results.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SEC23B Gene Anemia Dyserythropoietic Type 2 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
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 many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Clarity
Don’t let uncertainty about your hematological condition continue. Our SEC23B genetic test provides the definitive answers you need for proper diagnosis and management. With a turnaround time of 3-4 weeks and comprehensive genetic counseling support, you’ll receive the clarity necessary to make informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
