GLRX5 Gene Anemia Sideroblastic Pyridoxine-Refractory Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Blood Disorders
The GLRX5 Gene Anemia Sideroblastic Pyridoxine-Refractory Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare hematological conditions. This advanced genetic test specifically targets mutations in the GLRX5 gene, which plays a critical role in iron-sulfur cluster biogenesis and mitochondrial function. When this gene malfunctions, it leads to a distinctive form of sideroblastic anemia that remains unresponsive to conventional pyridoxine (vitamin B6) therapy.
What This Test Measures and Detects
Our state-of-the-art NGS (Next Generation Sequencing) technology comprehensively analyzes the entire GLRX5 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Autosomal recessive inheritance patterns
- Pathogenic variants causing mitochondrial dysfunction
- Genetic markers associated with iron metabolism disruption
The test provides definitive molecular diagnosis by detecting specific genetic abnormalities that impair the normal production of hemoglobin and red blood cells, leading to the characteristic ringed sideroblasts visible in bone marrow examinations.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained microcytic or normocytic anemia unresponsive to iron therapy
- Family history of inherited blood disorders or consanguineous relationships
- Clinical features of sideroblastic anemia with ringed sideroblasts in bone marrow
- Failure to respond to pyridoxine supplementation treatment
- Evidence of systemic iron overload without clear cause
- Developmental delays or neurological symptoms associated with mitochondrial disorders
- Previous inconclusive hematological workups
Significant Benefits of Genetic Testing
Undergoing the GLRX5 genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides molecular confirmation
- Personalized Treatment Planning: Guides appropriate therapeutic interventions beyond ineffective pyridoxine therapy
- Family Risk Assessment: Enables genetic counseling for at-risk family members
- Reproductive Planning: Informs family planning decisions for carriers
- Prognostic Information: Provides insight into disease progression and potential complications
- Prevention of Unnecessary Treatments: Avoids ineffective therapies and their associated side effects
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming GLRX5-related sideroblastic anemia, requiring specialized hematological management
- Negative Result: Excludes GLRX5 mutations, directing further investigation toward other genetic causes of sideroblastic anemia
- Variant of Uncertain Significance: Identifies genetic changes requiring additional family studies or functional analysis
- Carrier Status: Determines if you carry one copy of the mutated gene without developing the disease
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic counselors and hematologists.
Test Pricing and Service Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility and Convenience
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified phlebotomists and genetic counselors ensures accessible testing and comprehensive support throughout your diagnostic journey.
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
- Informed consent process explaining benefits and limitations
Take Control of Your Genetic Health Today
Don’t let unexplained anemia or family history of blood disorders remain a mystery. Our advanced GLRX5 genetic testing provides the answers you need for informed medical decisions and personalized care. With our discounted price of $500 and comprehensive genetic analysis, you can achieve diagnostic clarity and peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the testing process and help you understand your genetic health.
