Myotonic Dystrophy Type 2 Test
Introduction to the Myotonic Dystrophy Type 2 Test
The Myotonic Dystrophy Type 2 Test is a critical diagnostic tool used to identify mutations in the ZFN9 gene, which are associated with Myotonic Dystrophy Type 2 (DM2). This hereditary condition is characterized by progressive muscle weakness and myotonia, affecting the quality of life of those diagnosed. Early detection through this test can lead to better management and treatment options, making it an essential procedure for individuals at risk.
What the Test Measures
This test specifically detects genetic mutations in the ZFN9 gene, which are responsible for Myotonic Dystrophy Type 2. By analyzing a sample of whole blood, we can determine whether an individual carries the gene mutation associated with this disorder.
Who Should Consider This Test?
Individuals who should consider the Myotonic Dystrophy Type 2 Test include:
- Those with a family history of Myotonic Dystrophy or related neuromuscular disorders.
- Patients experiencing symptoms such as muscle weakness, stiffness, or fatigue.
- Individuals with risk factors including age and genetic predisposition.
Benefits of Taking the Test
Taking the Myotonic Dystrophy Type 2 Test offers several benefits:
- Early diagnosis can lead to timely interventions and management strategies.
- Understanding your genetic risk can help in making informed healthcare decisions.
- Access to support and resources for managing symptoms and improving quality of life.
Understanding Your Results
After the test, results will be provided within a week, allowing patients to understand their genetic status concerning Myotonic Dystrophy Type 2. It is essential to consult with a healthcare provider to interpret the results accurately and discuss potential next steps.
Test Pricing
Test Name | Price (NGN) |
---|---|
Myotonic Dystrophy Type 2 Test | Regular Price: 300,000 NGN |
Discount Price: 180,000 NGN |
Booking Your Test
To book the Myotonic Dystrophy Type 2 Test, please contact us at +2348077798758 or visit our website. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your sample.
Test Details
- Turnaround Time: Sample must be submitted by Monday 11 am; report available by Friday.
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Method: PCR, Fragment Analysis
- Specialty: Neurology
- Department: Molecular Diagnostics
- Disease Type: Neurologic Disorder