RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test
Introduction
The RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the RPS28 gene. This test plays a crucial role in diagnosing Diamond Blackfan anemia, a rare blood disorder characterized by anemia and various physical anomalies, including mandibulofacial dysostosis. Understanding these genetic markers allows for targeted treatment and management, enhancing the quality of life for affected individuals.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific genetic mutations associated with Diamond Blackfan anemia. It focuses on analyzing the RPS28 gene, which is integral to the formation of ribosomes and the production of red blood cells.
Who Should Consider This Test?
Individuals who exhibit symptoms of Diamond Blackfan anemia, such as:
- Severe anemia
- Fatigue
- Physical anomalies, particularly in the facial structure
- Family history of genetic disorders
Patients with risk factors or those who have undergone genetic counseling are also advised to consider this test.
Benefits of Taking the Test
- Early and accurate diagnosis of Diamond Blackfan anemia.
- Informed treatment options based on specific genetic mutations.
- Enhanced understanding of potential health risks for family members.
- Access to specialized care from hematologists and geneticists.
Understanding Your Results
Results from the RPS28 Gene Diamond Blackfan Anemia Type 15 test will indicate whether mutations are present in the RPS28 gene. A genetic counselor will help interpret the results, discuss their implications, and suggest possible next steps for management and treatment.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for the test is approximately 3 to 4 weeks. The sample type required can be blood, extracted DNA, or one drop of blood on an FTA card. It is recommended to have a clinical history of the patient available and to undergo a genetic counseling session to create a pedigree chart of family members affected by RPS28 gene mutations.
Book Your Test Today!
We have branches across all major cities in Kenya, and we also offer home sample collection services for your convenience. To book the RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
