Myotonic Dystrophy Comprehensive Profile Test
Introduction
The Myotonic Dystrophy Comprehensive Profile Test is a specialized genetic test designed to detect mutations associated with myotonic dystrophy, a significant neurologic disorder. This condition is characterized by progressive muscle weakness and myotonia, which can severely impact the quality of life. Understanding your genetic predisposition is crucial for early intervention and management.
What the Test Measures
This test specifically analyzes the DMPK and ZFN9 genes, which are known to harbor mutations that can lead to myotonic dystrophy. By identifying these mutations, healthcare providers can better understand the risk and potential severity of the disorder.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with symptoms of myotonic dystrophy, such as muscle weakness, stiffness, or fatigue.
- Individuals with a family history of myotonic dystrophy or related neurologic disorders.
- Patients experiencing unexplained muscle symptoms or progressive weakness.
Benefits of Taking the Test
Taking the Myotonic Dystrophy Comprehensive Profile Test offers numerous advantages:
- Early diagnosis of myotonic dystrophy, allowing for timely management.
- Informed family planning and risk assessment for relatives.
- Access to specialized care and treatment options tailored to the individual’s needs.
Understanding Your Results
Results from the Myotonic Dystrophy Comprehensive Profile Test will indicate whether mutations in the DMPK or ZFN9 genes are present. It is essential to discuss these results with a qualified neurologist to understand their implications and to outline potential next steps in management or treatment.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Myotonic Dystrophy Comprehensive Profile Test | 220,000 NGN | 360,000 NGN |
Booking Information
To book the Myotonic Dystrophy Comprehensive Profile Test, please contact us at +2348077798758. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for the test.
Additional Information
Turnaround Time: Sample must be submitted by Monday 11 am; report available by Friday.
Sample Type: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Specialty: Neurologist
Department: Molecular Diagnostics
Method: PCR, Fragment Analysis
Disease Type: Neurologic Disorder
