RPS29 Gene Diamond-Blackfan Anemia Type 13 NGS Genetic DNA Test
Comprehensive Genetic Testing for Diamond-Blackfan Anemia Type 13
The RPS29 Gene Diamond-Blackfan Anemia Type 13 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RPS29 gene, which are responsible for Diamond-Blackfan anemia type 13. This rare inherited bone marrow failure syndrome affects approximately 5-7 individuals per million live births and is characterized by impaired red blood cell production, leading to severe anemia typically presenting in infancy.
What This Test Measures and Detects
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the RPS29 gene for pathogenic variants. The test specifically identifies:
- Point mutations in the RPS29 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants disrupting ribosomal protein production
- Genetic alterations affecting ribosome biogenesis
- Inherited mutations following autosomal dominant patterns
Who Should Consider This Test
This genetic test is recommended for individuals presenting with clinical features suggestive of Diamond-Blackfan anemia, including:
- Infants and children with congenital macrocytic anemia
- Patients with physical abnormalities such as craniofacial malformations
- Individuals with thumb anomalies or short stature
- Patients with elevated erythrocyte adenosine deaminase activity
- Those with family history of Diamond-Blackfan anemia
- Individuals requiring differential diagnosis from other bone marrow failure syndromes
Clinical Benefits of Genetic Testing
Undergoing the RPS29 Gene Diamond-Blackfan Anemia Type 13 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Diamond-Blackfan anemia type 13 with high precision
- Family Planning: Enables informed reproductive decisions for affected families
- Treatment Guidance: Helps hematologists develop targeted treatment strategies
- Prognostic Information: Provides insights into disease progression and management
- Genetic Counseling: Supports comprehensive family genetic risk assessment
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and hematology specialists. The report will include:
- Detailed analysis of identified RPS29 gene variants
- Classification of mutations as pathogenic, likely pathogenic, or variants of uncertain significance
- Clinical correlation with Diamond-Blackfan anemia type 13 presentation
- Recommendations for additional family member testing when appropriate
- Guidance for ongoing medical management and surveillance
Test Pricing and Availability
| Price Type | Amount (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
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing for patients nationwide.
Pre-Test Requirements
Before scheduling your RPS29 Gene Diamond-Blackfan Anemia Type 13 NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation is available
- A genetic counseling session has been conducted to create a detailed family pedigree
- Appropriate informed consent has been obtained
- Insurance pre-authorization has been verified when applicable
Take Action Today
Don’t delay in obtaining crucial genetic information about Diamond-Blackfan anemia type 13. Our team of hematology genetics specialists is ready to assist you with comprehensive testing and personalized care. Contact us today to schedule your appointment or learn more about our genetic testing services.
Call or WhatsApp: +1(267) 388-9828
Book Your Test Today for Only $500 USD
Early genetic diagnosis can significantly impact treatment outcomes and family planning decisions. Trust our expertise in hematology genetics to provide you with accurate, reliable results and comprehensive support throughout your testing journey.
