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 a cutting-edge diagnostic tool designed to identify mutations in the SYNE1 gene, which are associated with Emery-Dreifuss muscular dystrophy. This condition is characterized by muscle weakness and wasting, joint contractures, and cardiac problems. Early diagnosis through genetic testing is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to accurately detect genetic variations in the SYNE1 gene. It is essential for confirming a diagnosis of Emery-Dreifuss muscular dystrophy type 4, allowing for timely intervention and management strategies.
Who Should Consider This Test
Patients who exhibit symptoms such as:
- Progressive muscle weakness
- Joint contractures
- Cardiac issues
- Family history of muscular dystrophy or related disorders
Individuals with a family history of SYNE1-related conditions should also consider this test for early detection and preventive measures.
Benefits of Taking the Test
- Provides a definitive diagnosis, enabling appropriate treatment options.
- Helps in understanding the risk of passing the condition to future generations.
- Facilitates early intervention, which can improve quality of life.
- Guides family planning decisions for at-risk individuals.
Understanding Your Results
Results from the SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test will indicate the presence or absence of mutations in the SYNE1 gene. Positive results may confirm a diagnosis, while negative results can provide peace of mind or indicate the need for further testing.
Test Name and Price
| Discount Price | 40,000 KSh |
|---|---|
| Regular Price | 56,000 KSh |
Additional Information
The turnaround time for results is approximately 3 to 4 weeks, and the sample type required is either blood, extracted DNA, or one drop of blood on an FTA card. It is recommended that patients undergo a genetic counseling session to discuss family history and potential implications of test results.
Book Your Test Today
We have branches across Kenya, and our dedicated team is ready to assist you with the SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test. For more information or to book your test, please call or WhatsApp us at +254711564616.
