SLC25A38 Gene Anemia Sideroblastic Pyridoxine-Refractory Autosomal Recessive NGS Genetic DNA Test
Understanding SLC25A38 Gene-Related Anemia
SLC25A38 gene-related anemia represents a rare form of inherited sideroblastic anemia characterized by ineffective erythropoiesis and abnormal iron accumulation in developing red blood cells. This autosomal recessive condition results from mutations in the SLC25A38 gene, which plays a crucial role in mitochondrial glycine transport essential for heme biosynthesis. The test provides critical diagnostic information for patients who do not respond to pyridoxine (vitamin B6) therapy, distinguishing this condition from other forms of sideroblastic anemia.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic DNA test specifically targets the SLC25A38 gene to identify pathogenic variants responsible for:
- Autosomal recessive inheritance pattern confirmation
- Specific mutations affecting mitochondrial glycine transport
- Genetic basis for pyridoxine-refractory sideroblastic anemia
- Carrier status identification in family members
- Disease-causing variants for accurate diagnosis and prognosis
Advanced NGS Technology for Precision Diagnosis
Utilizing cutting-edge Next-Generation Sequencing (NGS) technology, this test provides comprehensive analysis of the entire SLC25A38 gene coding region, ensuring high sensitivity and specificity in mutation detection. The advanced methodology allows for simultaneous detection of point mutations, small insertions/deletions, and other genetic variations that may contribute to disease pathology.
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 sideroblastic anemia or consanguineous parents
- Elevated serum iron levels with ringed sideroblasts in bone marrow
- Failure to respond to pyridoxine supplementation
- Progressive anemia requiring regular blood transfusions
- Suspected inherited bone marrow failure syndromes
- Unexplained iron overload in young patients
Clinical Symptoms Indicating Testing
Patients typically present with fatigue, pallor, weakness, and exercise intolerance. Laboratory findings often include hypochromic microcytic anemia, elevated serum ferritin, and increased transferrin saturation. The presence of ringed sideroblasts in bone marrow examination strongly suggests the need for genetic testing.
Significant Benefits of Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic evidence for accurate disease classification
- Treatment Guidance: Helps avoid ineffective pyridoxine therapy and guides appropriate management
- Genetic Counseling: Enables informed family planning and recurrence risk assessment
- Early Intervention: Facilitates timely management of iron overload complications
- Family Screening: Identifies at-risk relatives for preventive monitoring
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Test results are carefully interpreted by our team of certified geneticists and hematologists:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the SLC25A38 gene, confirming the diagnosis of autosomal recessive sideroblastic anemia. This result provides:
- Confirmation of genetic diagnosis
- Information about specific mutation type
- Guidance for clinical management strategies
- Basis for family member testing
Negative Result Interpretation
A negative result suggests that SLC25A38 mutations are not the cause of the patient’s anemia, indicating the need to investigate other genetic or acquired causes of sideroblastic anemia.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. Our genetic counseling team provides comprehensive guidance on the implications and recommended follow-up for such findings.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SLC25A38 Gene Anemia Sideroblastic Pyridoxine-Refractory Autosomal Recessive NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements and Genetic Counseling
Prior to testing, we require:
- Complete clinical history of the patient
- Genetic counseling session with our certified genetic counselors
- Development of a detailed pedigree chart documenting family members affected with similar conditions
- Discussion of test implications, benefits, and limitations
- Informed consent process
Nationwide Testing Availability
We proudly offer this specialized genetic testing service across the United States with convenient 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 collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of sideroblastic anemia or have a family history of blood disorders, this genetic test could provide the answers you need. Our team of hematologists and genetic specialists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SLC25A38 gene test. Take control of your health with definitive genetic diagnosis from America’s leading genetics laboratory.
