COX4I2 Gene Dyserythropoietic Anemia NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Blood Disorders
The COX4I2 Gene Dyserythropoietic Anemia NGS Genetic DNA Test represents a breakthrough in hematological diagnostics, offering precise identification of genetic mutations responsible for congenital dyserythropoietic anemia. This advanced testing methodology provides healthcare providers with critical information for accurate diagnosis and personalized treatment planning in patients with unexplained hematological abnormalities.
What This Test Measures and Detects
Our specialized NGS genetic test specifically targets the COX4I2 gene, which encodes cytochrome c oxidase subunit 4 isoform 2 – a crucial component of the mitochondrial respiratory chain complex IV. The test identifies:
- Point mutations and single nucleotide variants in the COX4I2 gene
- Insertions and deletions affecting gene function
- Splice site mutations that disrupt protein production
- Copy number variations and structural rearrangements
- Pathogenic variants associated with dyserythropoietic anemia type IV
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Unexplained chronic anemia unresponsive to conventional treatments
- Family history of congenital dyserythropoietic anemia
- Abnormal red blood cell morphology on peripheral blood smear
- Persistent fatigue and weakness despite adequate nutrition
- Jaundice or elevated bilirubin levels without liver dysfunction
- Splenomegaly or hepatomegaly of unknown etiology
- Iron overload complications despite normal hemoglobin levels
Clinical Benefits of COX4I2 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out COX4I2-related dyserythropoietic anemia with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to prevent severe complications
- Differential Diagnosis: Distinguishes between various types of congenital anemias
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your COX4I2 gene analysis:
- Positive Result: Indicates the presence of pathogenic mutations associated with dyserythropoietic anemia, requiring specialized hematological management
- Negative Result: Suggests that COX4I2 mutations are not the cause of your hematological symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies
- Carrier Status: Determines if you carry a single copy of a mutated gene, important for family planning considerations
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your COX4I2 genetic test, please ensure:
- Complete clinical history documentation of hematological symptoms
- Genetic counseling session to create detailed family pedigree chart
- Review of previous hematological evaluations and laboratory results
- Discussion of potential implications for family members
Nationwide Testing Accessibility
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 cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let unexplained hematological symptoms remain a mystery. Our COX4I2 Gene Dyserythropoietic Anemia NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and effective treatment planning. Contact our genetic specialists today to schedule your comprehensive evaluation.
Call or WhatsApp: +1(267) 388-9828
Schedule your appointment today and take control of your hematological health with advanced genetic insights.
