Syne1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test
Introduction
The Syne1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test is an advanced genetic test that utilizes Next-Generation Sequencing (NGS) technology to detect mutations in the SYNE1 gene, which are associated with Emery-Dreifuss muscular dystrophy (EDMD). This condition is characterized by muscle weakness, joint contractures, and cardiac issues, making early diagnosis crucial for effective management.
What the Test Measures
This test specifically measures the presence of mutations in the SYNE1 gene. By analyzing the genetic material from a blood sample or extracted DNA, the test can confirm a diagnosis of EDMD and help determine the risk of passing the condition to future generations.
Who Should Consider This Test
Individuals who exhibit symptoms such as muscle weakness, joint contractures, or a family history of muscular dystrophy should consider this test. Additionally, those with risk factors for EDMD, including a family history of the SYNE1 gene mutation, may also benefit from testing.
Benefits of Taking the Test
- Early diagnosis and management of muscular dystrophy.
- Informed family planning and risk assessment for future generations.
- Access to tailored treatment options and support resources.
Understanding Your Results
Results from the Syne1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test will indicate whether a mutation is present. A positive result confirms the diagnosis, while a negative result may still warrant further clinical evaluation based on symptoms and family history. It is essential to discuss results with a healthcare provider for proper interpretation and guidance.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 |
| Regular Price | 560,000 |
Book Your Test Today!
To book the Syne1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and providing any additional information you may need.
Additional Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: A genetic counseling session is recommended to draw a pedigree chart of family members affected with SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4.
- Specialty: Neurology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Neurological Disorders
