Myotonic Dystrophy Type 1 Test
Introduction to Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1) is a genetic disorder characterized by progressive muscle wasting and weakness. This condition is caused by a mutation in the DMPK gene, leading to a range of symptoms that can significantly impact quality of life. The Myotonic Dystrophy Type 1 Test is crucial for diagnosing this condition, allowing for early intervention and management strategies tailored to the patient’s needs.
What the Test Measures
This test specifically detects mutations in the DMPK gene, which are responsible for Myotonic Dystrophy Type 1. By analyzing a sample of whole blood, healthcare providers can confirm the presence of these genetic mutations, providing clarity on the patient’s condition.
Who Should Consider This Test?
Individuals who experience symptoms such as muscle weakness, myotonia (difficulty relaxing muscles), and cardiac issues should consider this test. Additionally, those with a family history of DM1 or related neurologic disorders are advised to undergo testing to assess their risk.
Benefits of Taking the Test
- Early diagnosis can lead to better management of symptoms.
- Understanding genetic risks can inform family planning decisions.
- Access to specialized care and support services for affected individuals.
- Informed decisions regarding treatment options and lifestyle adjustments.
Understanding Your Results
Results from the Myotonic Dystrophy Type 1 Test will indicate whether the DMPK gene mutation is present. A positive result confirms the diagnosis of DM1, while a negative result may suggest a lower likelihood of the condition. It is essential to discuss results with a healthcare provider for appropriate interpretation and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Myotonic Dystrophy Type 1 Test | 170,000 NGN | 300,000 NGN |
How to Book the Test
To schedule your Myotonic Dystrophy Type 1 Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide any additional information you may need.
Test Specifications
Turnaround Time: Sample must be submitted by Monday 11 am; reports are available by Friday.
Sample Type: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Components: DMPK Gene
Pre-Test Instructions: Ensure the Genomics Clinical Information Requisition Form (Form 20) is filled out completely.
Specialty: Neurologist
Department: Molecular Diagnostics
Method: PCR, Fragment Analysis
Disease Type: Neurologic Disorder