RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test
Introduction to the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test
The RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing Diamond-Blackfan anemia, a rare blood disorder characterized by insufficient red blood cell production. This test utilizes Next Generation Sequencing (NGS) technology to analyze the RPS17 gene, which is known to be associated with this condition. By identifying mutations in this gene, healthcare providers can better understand the genetic basis of the disease and tailor treatment plans accordingly.
What the Test Measures
This test specifically detects mutations in the RPS17 gene, which can lead to Diamond-Blackfan anemia. By analyzing the genetic material from a blood sample or extracted DNA, the test provides insights into the presence of these mutations, enabling accurate diagnosis and management of the condition.
Who Should Consider This Test
Individuals who should consider the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test include:
- Patients with a clinical history suggestive of Diamond-Blackfan anemia, such as chronic anemia, fatigue, or pallor.
- Family members of individuals diagnosed with Diamond-Blackfan anemia, especially if there is a known history of RPS17 gene mutations.
- Patients with unexplained blood disorders who may benefit from genetic evaluation.
Benefits of Taking the Test
Taking the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Diamond-Blackfan anemia.
- Informed decision-making regarding treatment options.
- Family planning and risk assessment for hereditary conditions.
- Access to specialized care from hematologists and genetic counselors.
Understanding Your Results
Results from the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test will indicate whether mutations in the RPS17 gene are present. A positive result may confirm a diagnosis of Diamond-Blackfan anemia, while a negative result can help rule out this condition. It is essential to discuss the results with a healthcare provider to understand their implications and explore further management options.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Sample Collection and Pre-Test Instructions
The sample type for this test can be blood, extracted DNA, or one drop of blood on an FTA card. It is recommended that patients undergo a genetic counseling session to discuss their clinical history and create a pedigree chart of family members affected by Diamond-Blackfan anemia.
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. Don’t wait to get the answers you need. Book the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test today! For more information, call or WhatsApp us at +254711564616.