CYB5R3 Gene Methemoglobinemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Blood Disorders
The CYB5R3 Gene Methemoglobinemia Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary hematological conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the CYB5R3 gene, which plays a critical role in the NADH-cytochrome b5 reductase enzyme system essential for maintaining healthy hemoglobin function.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the CYB5R3 gene located on chromosome 22q13.2, which encodes the enzyme cytochrome b5 reductase. The test identifies:
- Pathogenic variants and mutations in the CYB5R3 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and frameshift mutations
- Missense and nonsense mutations impacting protein structure
- Genetic variations associated with reduced enzyme activity
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Unexplained cyanosis (bluish skin discoloration) without cardiac or pulmonary disease
- Persistent shortness of breath and fatigue during normal activities
- Family history of hereditary methemoglobinemia or blood disorders
- Newborns or children with congenital cyanosis
- Individuals with elevated methemoglobin levels in blood tests
- Those planning pregnancy with family history of hematological conditions
Clinical Benefits of Genetic Testing
Undergoing the CYB5R3 Gene Methemoglobinemia Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms hereditary methemoglobinemia type 1 with molecular precision
- Treatment Guidance: Informs appropriate therapeutic interventions including methylene blue administration
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Enables early intervention and monitoring strategies
- Differential Diagnosis: Helps distinguish from other causes of cyanosis and oxygen transport issues
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and hematology specialists:
- Positive Result: Indicates presence of pathogenic CYB5R3 gene mutations confirming hereditary methemoglobinemia type 1
- Negative Result: Suggests absence of detectable mutations in the CYB5R3 gene
- 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
All results include comprehensive interpretation and recommendations for clinical management from our expert medical team.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing services nationwide.
Schedule Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and hematology specialists are ready to guide you through the testing process and provide comprehensive results interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CYB5R3 Gene Methemoglobinemia Type 1 NGS Genetic DNA Test. Our team will assist with appointment scheduling, insurance verification, and answer any questions about the testing process.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing accessible and convenient for patients across the United States.
