RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Blood Disorders
The RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare hematological conditions. This advanced genetic analysis specifically targets mutations in the RPS17 gene, which plays a critical role in ribosomal function and erythropoiesis. Diamond-Blackfan anemia type 4 is a rare congenital bone marrow failure syndrome characterized by impaired red blood cell production, making early and accurate diagnosis essential for proper management and treatment planning.
What This Test Measures and Detects
Our comprehensive NGS genetic test utilizes cutting-edge next-generation sequencing technology to thoroughly analyze the RPS17 gene for pathogenic variants associated with Diamond-Blackfan anemia type 4. The test specifically identifies:
- Point mutations in the RPS17 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants disrupting ribosomal protein synthesis
- Genetic alterations impacting erythropoiesis regulation
- Inherited and de novo mutations causing bone marrow failure
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with clinical symptoms suggestive of Diamond-Blackfan anemia or those with relevant family history. Key indications include:
- Infants and children with congenital hypoplastic anemia
- Patients with unexplained macrocytic anemia unresponsive to standard treatments
- Individuals with growth retardation and physical abnormalities
- Patients with craniofacial anomalies, thumb abnormalities, or other congenital malformations
- Family members of individuals diagnosed with Diamond-Blackfan anemia
- Couples with family history planning pregnancy
- Patients with suspected inherited bone marrow failure syndromes
Clinical Benefits of Genetic Testing
Undergoing the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Diamond-Blackfan anemia type 4 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 progression and potential complications
- Research Contribution: Contributes to ongoing understanding of rare hematological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of pathogenic RPS17 gene mutations, confirming Diamond-Blackfan anemia type 4 diagnosis
- Negative Result: Suggests absence of detectable RPS17 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single gene copy mutations who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient undergoing testing
- Scheduled genetic counseling session to create detailed family pedigree
- Documentation of any previous hematological evaluations
- Insurance information if applicable
Take Control of Your Genetic Health Today
Don’t let uncertainty about rare genetic conditions affect your health decisions. Our RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test provides the clarity and confidence you need for informed medical choices. With advanced NGS technology, expert genetic counseling, and comprehensive result interpretation, we’re committed to delivering exceptional diagnostic services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment. Our knowledgeable genetic counselors are ready to answer your questions and guide you through the testing process.
Early genetic testing can make a significant difference in managing rare hematological conditions. Take the first step toward understanding your genetic health by booking your RPS17 gene analysis today.
