RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Blood Disorders
The RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare inherited bone marrow failure syndromes. This advanced genetic analysis specifically targets mutations in the RPS28 gene, which plays a critical role in ribosome biogenesis and protein synthesis. When this gene malfunctions, it leads to Diamond Blackfan Anemia Type 15, a severe congenital condition characterized by impaired red blood cell production and distinctive craniofacial abnormalities.
What This Test Detects and Measures
This comprehensive NGS-based genetic test provides detailed analysis of:
- Complete sequencing of the RPS28 gene to identify pathogenic variants
- Detection of point mutations, insertions, deletions, and splice site variants
- Assessment of genetic changes affecting ribosomal protein function
- Identification of autosomal recessive inheritance patterns
- Analysis of variants associated with bone marrow failure and facial dysmorphism
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Congenital macrocytic anemia appearing in infancy or early childhood
- Growth retardation and failure to thrive despite adequate nutrition
- Characteristic facial features including cleft palate, micrognathia, and hypertelorism
- Family history of Diamond Blackfan Anemia or similar blood disorders
- Unexplained bone marrow failure syndromes in pediatric patients
- Multiple congenital anomalies involving craniofacial development
- Suspected ribosomal protein deficiency disorders
Significant Benefits of Genetic Testing
Undergoing the RPS28 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Diamond Blackfan Anemia Type 15 with precision
- Personalized Treatment: Enables targeted therapeutic approaches including corticosteroid therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management of anemia and associated complications
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic RPS28 mutations confirming Diamond Blackfan Anemia Type 15 diagnosis
- Negative Result: Suggests absence of detectable RPS28 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and Charlotte. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s health and future. Our specialized RPS28 genetic testing provides the answers you need for informed medical decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic services without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
