PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test
Introduction to the Test
The PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with mitochondrial myopathy and sideroblastic anemia. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, crucial for effective management of these conditions.
What the Test Measures
This genetic test specifically detects mutations in the PUS1 gene, which can lead to mitochondrial dysfunction and contribute to the development of myopathy and anemia. By analyzing the genetic material, the test helps in understanding the underlying causes of these disorders.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Muscle weakness or fatigue
- Shortness of breath
- Unexplained anemia
- Family history of mitochondrial disorders
should consider undergoing this test. Risk factors include a personal or family history of similar genetic conditions.
Benefits of Taking the Test
- Accurate diagnosis of mitochondrial myopathy and sideroblastic anemia.
- Guides treatment decisions and management strategies.
- Offers insights into genetic risks for family members.
- Facilitates genetic counseling for affected individuals.
Understanding Your Results
Results from the PUS1 Gene test will indicate whether a mutation is present. A genetic counselor will help interpret these results, providing guidance on the implications for your health and that of your family.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Sample Type and Turnaround Time
Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card. The turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Prior to the test, a clinical history of the patient is required. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by the PUS1 gene condition.
Book Your Test Today!
We have branches across major cities in Kenya, including Nairobi, Mombasa, and Kisumu. We also offer a convenient home sample collection service. Don’t wait any longer to understand your health better. Call or WhatsApp us at +254711564616 to book your test today!
