RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Anemia Disorders
The RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RPS19 gene, which are responsible for Diamond-Blackfan anemia type 1. This rare inherited bone marrow failure syndrome primarily affects red blood cell production, leading to severe anemia that typically manifests during infancy or early childhood. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants associated with this condition.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the RPS19 gene located on chromosome 19, which encodes ribosomal protein S19. Mutations in this gene disrupt normal ribosome function and protein synthesis, ultimately impairing red blood cell development in the bone marrow. The test identifies:
- Point mutations, deletions, and insertions in the RPS19 gene
- Novel genetic variants with potential clinical significance
- Inheritance patterns for family planning purposes
- Specific mutation types that may influence treatment response
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Diamond-Blackfan anemia or those with a family history of the condition. Key indications include:
- Infants and children with macrocytic anemia unresponsive to iron therapy
- Patients with physical abnormalities such as craniofacial malformations, thumb anomalies, or growth retardation
- Individuals with elevated erythrocyte adenosine deaminase activity
- Family members of diagnosed Diamond-Blackfan anemia patients
- Couples with a family history planning pregnancy
- Patients with unexplained bone marrow failure syndromes
Clinical Benefits of Genetic Testing
Undergoing the RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Diamond-Blackfan anemia type 1 with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent complications
- Prognostic Information: Helps predict disease severity and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps patients and families interpret test results effectively:
- Positive Result: Indicates the presence of a pathogenic mutation in the RPS19 gene, confirming Diamond-Blackfan anemia type 1 diagnosis
- Negative Result: Suggests absence of known RPS19 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | RPS19 Gene Diamond-Blackfan Anemia Type 1 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) Technology |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our network ensures accessible genetic testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or your loved ones are experiencing symptoms suggestive of Diamond-Blackfan anemia or have a family history of this condition, don’t wait to get answers. Our team of genetic specialists and hematologists is ready to provide comprehensive testing and counseling services. Schedule your RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test today to gain valuable insights into your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or learn more about our genetic testing services. Our knowledgeable staff is available to answer your questions and guide you through the testing process.
