RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test
Introduction
The RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the RPS19 gene, which are responsible for Diamond-Blackfan Anemia (DBA). This condition is a rare inherited blood disorder characterized by a failure of the bone marrow to produce enough red blood cells, leading to anemia and various associated complications. By utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the RPS19 gene, offering crucial insights into the genetic underpinnings of this disorder.
What the Test Measures
This genetic test specifically measures and detects mutations in the RPS19 gene. It is instrumental in confirming a diagnosis of Diamond-Blackfan Anemia, particularly in patients exhibiting symptoms such as severe anemia, physical malformations, and a predisposition to certain cancers.
Who Should Consider This Test?
Individuals experiencing symptoms of anemia, particularly those with a family history of Diamond-Blackfan Anemia, should consider this test. Risk factors include:
- Severe, unexplained anemia in children or adults
- Family history of blood disorders
- Physical anomalies associated with DBA
Benefits of Taking the Test
The RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test offers numerous benefits, including:
- Accurate diagnosis of Diamond-Blackfan Anemia
- Informed family planning and genetic counseling
- Guidance for treatment options
- Understanding the risk of recurrence in future pregnancies
Understanding Your Results
Results from the RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test will be interpreted by a qualified genetic counselor or hematologist. They will provide insights into the implications of the findings and discuss possible management strategies. It is important to understand that a positive result indicates a mutation associated with DBA, while a negative result does not rule out the condition entirely, as other genetic factors may be involved.
Test Name and Price
Test Name | Price (NGN) |
---|---|
RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test | Regular Price: 560,000 NGN |
Discount Price: 400,000 NGN |
Book the Test
To take the next step towards understanding your genetic health, book the RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test today! For inquiries or to schedule your appointment, please contact us at +2348077798758.
Turnaround time for results is approximately 3 to 4 weeks. Please ensure to provide a clinical history prior to the test, and consider a genetic counseling session to draw a pedigree chart of family members affected by the RPS19 gene.
Don’t wait to gain insight into your health—book your test now!