AMPD1 Gene Myopathy Due To Myoadenylate Deaminase Deficiency NGS Genetic DNA Test
Introduction
The AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to identify genetic mutations associated with this metabolic disorder. This test is essential for understanding the underlying genetic causes of muscle weakness and fatigue, enabling healthcare providers to offer tailored management strategies for affected individuals.
What the Test Measures
This genetic test specifically measures mutations in the AMPD1 gene, which plays a critical role in the metabolism of adenosine monophosphate (AMP). By detecting variations in this gene, the test can confirm a diagnosis of myoadenylate deaminase deficiency, a condition that can lead to significant muscle dysfunction.
Who Should Consider This Test?
Individuals experiencing unexplained muscle weakness, fatigue, or exercise intolerance should consider this test. It is particularly relevant for:
- Patients with a family history of myopathy or metabolic disorders.
- Individuals showing symptoms of muscle pain after physical activity.
- Those with a clinical history suggestive of metabolic myopathy.
Benefits of Taking the Test
Taking the AMPD1 Gene Myopathy NGS Genetic DNA Test offers several benefits, including:
- Accurate diagnosis of genetic conditions leading to better management of symptoms.
- Informed family planning through genetic counseling.
- Access to targeted therapies and interventions based on genetic findings.
Understanding Your Results
Results from the AMPD1 Gene Myopathy test will provide insights into whether genetic mutations are present. A positive result indicates a confirmed diagnosis, while a negative result may suggest other causes for symptoms. It is essential to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| AMPD1 Gene Myopathy NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
The test can be performed using:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
The typical turnaround time for results is between 3 to 4 weeks.
Pre-Test Instructions
Before taking the AMPD1 Gene Myopathy test, patients are advised to have a genetic counseling session to discuss their clinical history and draw a pedigree chart of family members affected by myopathy due to myoadenylate deaminase deficiency.
Book Your Test Today!
We have branches across all major cities in Kenya and offer home sample collection services for your convenience. To book the AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic DNA Test, call or WhatsApp us at +254711564616.
