ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test
The ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test is an advanced diagnostic test designed to detect mutations in the ACTA1 gene, which are linked to scapulohumeroperoneal myopathy. This condition is characterized by muscle weakness in the shoulder, upper arms, and lower legs, leading to significant mobility issues. Understanding the genetic basis of this disorder is essential for effective management and treatment.
What the Test Measures/Detects
This test utilizes Next Generation Sequencing (NGS) technology to analyze the ACTA1 gene for specific mutations. By identifying these genetic changes, healthcare providers can confirm a diagnosis of ACTA1 gene myopathy and differentiate it from other neuromuscular disorders.
Who Should Consider This Test
Individuals experiencing unexplained muscle weakness, particularly in the shoulders, arms, and legs, should consider this test. Additionally, those with a family history of scapulohumeroperoneal myopathy or other neurological disorders may be at risk and should consult a neurologist regarding genetic testing.
Benefits of Taking the Test
- Provides a definitive diagnosis, allowing for tailored treatment plans.
- Helps in understanding the inheritance pattern of the disorder within families.
- Enables proactive management of symptoms and health outcomes.
- Offers peace of mind through genetic counseling and support.
Understanding Your Results
Once the test is completed, results will be interpreted by a genetic counselor or neurologist. They will explain the significance of any detected mutations and discuss potential implications for treatment and family planning. It is crucial to understand that not all genetic changes lead to disease, and the context of each result will be carefully considered.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To schedule your ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to book online. Our dedicated team is here to assist you through every step of the process, ensuring you receive the best care possible.
Turnaround time for results is approximately 3 to 4 weeks, and the test requires a blood sample. We recommend a genetic counseling session to discuss your clinical history and family pedigree chart before testing.
