TMPRSS6 Gene Iron-Refractory Iron Deficiency Anemia NGS Genetic DNA Test
Understanding Iron-Refractory Iron Deficiency Anemia (IRIDA)
Iron-refractory iron deficiency anemia (IRIDA) represents a rare hereditary disorder characterized by persistent iron deficiency anemia that fails to respond adequately to oral iron supplementation. This condition stems from genetic mutations affecting the body’s iron regulatory mechanisms, specifically involving the TMPRSS6 gene that encodes matriptase-2, a crucial protein in iron homeostasis regulation.
The Science Behind TMPRSS6 Gene Function
The TMPRSS6 gene plays a pivotal role in iron metabolism by producing matriptase-2, a transmembrane serine protease that regulates hepcidin expression. Hepcidin serves as the master regulator of iron absorption and distribution throughout the body. When TMPRSS6 gene mutations occur, they disrupt normal hepcidin regulation, leading to excessive hepcidin production that blocks iron absorption from the diet and iron release from storage sites.
What Our Advanced NGS Test Detects
Our comprehensive genetic analysis utilizes state-of-the-art Next-Generation Sequencing technology to identify:
- Pathogenic mutations in the TMPRSS6 gene coding regions
- Missense, nonsense, and frameshift variants affecting protein function
- Splice site mutations that disrupt normal gene expression
- Copy number variations and large deletions/duplications
- Novel genetic variants with potential clinical significance
Clinical Indications and Who Should Consider Testing
This genetic test is particularly recommended for individuals presenting with:
- Persistent microcytic hypochromic anemia unresponsive to oral iron therapy
- Low serum iron levels with normal or elevated ferritin
- Family history of iron deficiency anemia with poor treatment response
- Unexplained iron deficiency in childhood or adolescence
- Normal hemoglobin electrophoresis with ongoing anemia symptoms
- Failed response to multiple iron supplementation regimens
Key Benefits of Genetic Testing for IRIDA
Undergoing TMPRSS6 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms IRIDA diagnosis, eliminating diagnostic uncertainty
- Personalized Treatment: Guides appropriate therapeutic approaches including intravenous iron therapy
- Family Planning: Enables genetic counseling for family members and future generations
- Avoidance of Unnecessary Treatments: Prevents continued ineffective oral iron supplementation
- Comprehensive Understanding: Provides insight into disease mechanisms and progression
Understanding Your Genetic Test Results
Our detailed genetic report includes comprehensive interpretation:
- Positive Result: Identifies pathogenic TMPRSS6 mutations confirming IRIDA diagnosis
- Negative Result: No disease-causing variants detected, suggesting alternative causes
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide 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 numerous other cities. Our network of certified collection centers ensures accessible genetic testing nationwide.
Take Control of Your Health Today
Don’t let unexplained anemia symptoms persist without proper diagnosis. Our TMPRSS6 genetic test provides the clarity needed for effective treatment planning. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Ready to uncover the genetic basis of your iron deficiency anemia? Contact our genetic specialists today at +1(267) 388-9828 or schedule your appointment online. Our team is prepared to guide you through the testing process and provide comprehensive post-test genetic counseling.
