RPS26 Gene Diamond-Blackfan Anemia Type 10 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Bone Marrow Disorders
The RPS26 Gene Diamond-Blackfan Anemia Type 10 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited bone marrow failure syndromes. Diamond-Blackfan anemia (DBA) is a rare congenital condition characterized by impaired red blood cell production, typically presenting in early infancy. Type 10 DBA specifically involves mutations in the RPS26 gene, which plays a crucial role in ribosome assembly and function. This comprehensive genetic analysis provides healthcare providers and families with definitive diagnostic information essential for appropriate medical management and genetic counseling.
What This Advanced Genetic Test Measures
Our NGS-based genetic test specifically targets the RPS26 gene located on chromosome 12q13.2, analyzing its complete coding sequence and flanking regions for pathogenic variants. The test detects:
- Point mutations, insertions, and deletions in the RPS26 gene
- Variants affecting ribosomal protein S26 production
- Genetic alterations disrupting ribosome biogenesis
- Inherited and de novo mutations associated with DBA type 10
- Both homozygous and compound heterozygous variants
Who Should Consider RPS26 Genetic Testing
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Diamond-Blackfan anemia, including:
- Infants and children with macrocytic anemia unresponsive to conventional treatments
- Patients with congenital pure red cell aplasia
- Individuals with growth retardation and physical abnormalities
- Patients with craniofacial anomalies, thumb abnormalities, or short stature
- Those with family history of Diamond-Blackfan anemia or unexplained infant anemia
- Individuals requiring differential diagnosis from other inherited bone marrow failure syndromes
Significant Benefits of Early Genetic Diagnosis
Undergoing RPS26 genetic testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Diamond-Blackfan anemia type 10 with high accuracy
- Personalized Treatment: Guides corticosteroid therapy decisions and transfusion requirements
- Genetic Counseling: Enables informed family planning and recurrence risk assessment
- Prognostic Information: Helps predict disease severity and potential complications
- Early Intervention: Facilitates timely management of anemia-related complications
- Cancer Risk Assessment: Identifies increased risk for hematological malignancies
Understanding Your Genetic Test Results
Our comprehensive genetic report provides clear interpretation of your RPS26 gene analysis:
- Positive Result: Indicates presence of pathogenic RPS26 mutation confirming Diamond-Blackfan anemia type 10 diagnosis
- Negative Result: Suggests absence of detectable RPS26 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
All results include detailed clinical implications and recommendations for follow-up care with hematology specialists.
Test Pricing and Availability
| Test Component | Price (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 Accessibility
We provide comprehensive genetic testing services 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. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Early genetic diagnosis of Diamond-Blackfan anemia type 10 can significantly impact treatment outcomes and quality of life. Our experienced genetic counselors and hematology specialists are available to discuss your testing options and provide comprehensive pre-test counseling. Don’t wait to get the answers you need for proper medical management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RPS26 genetic test or to speak with our genetic counseling team. Take the first step toward definitive diagnosis and personalized care.
