RPL26 Gene Diamond-Blackfan Anemia Type 11 NGS Genetic DNA Test
Comprehensive Genetic Testing for Diamond-Blackfan Anemia
The RPL26 Gene Diamond-Blackfan Anemia Type 11 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RPL26 gene, which are responsible for Diamond-Blackfan anemia type 11. This rare inherited bone marrow failure syndrome affects approximately 5-7 per million live births and manifests primarily as congenital hypoplastic anemia. The test utilizes Next Generation Sequencing technology to provide comprehensive genetic analysis, enabling precise diagnosis and personalized treatment planning for affected individuals and their families.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the RPL26 gene located on chromosome 17q, which encodes a ribosomal protein essential for proper ribosome assembly and function. The test detects:
- Pathogenic variants and mutations in the RPL26 gene
- Single nucleotide polymorphisms (SNPs) affecting ribosomal function
- Deletions, insertions, and frameshift mutations
- Splice site variants that disrupt normal gene expression
- Copy number variations affecting RPL26 gene dosage
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Congenital macrocytic anemia diagnosed in infancy or early childhood
- Progressive pallor, fatigue, and failure to thrive in infants
- Physical abnormalities including craniofacial dysmorphism, thumb anomalies, or short stature
- Family history of Diamond-Blackfan anemia or unexplained infant anemia
- Poor response to conventional anemia treatments
- Suspected inherited bone marrow failure syndromes
Benefits of RPL26 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms Diamond-Blackfan anemia type 11 with high specificity
- Personalized Treatment: Guides corticosteroid therapy and transfusion management
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates timely treatment to prevent complications
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of ribosomalopathies
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and hematologists:
- Positive Result: Indicates the presence of pathogenic RPL26 mutations confirming Diamond-Blackfan anemia type 11 diagnosis
- Negative Result: Suggests absence of detectable RPL26 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 copies who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | RPL26 Gene Diamond-Blackfan Anemia Type 11 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 |
| Testing Method | Next Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing procedures
Nationwide Testing Availability
We proudly offer 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 cities. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Diamond-Blackfan anemia type 11 affect your family’s future. Our specialized genetic testing provides the answers you need for informed medical decisions and comprehensive care planning. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Ready to schedule your RPL26 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our compassionate team is here to guide you through every step of the testing process and provide the clarity you deserve.
