Myotonic Dystrophy Type 1 Test
Introduction to the Myotonic Dystrophy Type 1 Test
The Myotonic Dystrophy Type 1 Test is a specialized genetic test designed to identify mutations in the DMPK gene, which are responsible for Myotonic Dystrophy Type 1 (DM1), a hereditary neuromuscular disorder. This test is vital for individuals who may be at risk or are experiencing symptoms associated with this condition.
What the Test Measures
This test specifically detects expansions in the CTG repeat region of the DMPK gene. Identifying these mutations is essential for diagnosing Myotonic Dystrophy Type 1 and understanding the severity and progression of the disease.
Who Should Consider This Test?
Individuals experiencing symptoms such as muscle weakness, myotonia (delayed relaxation of muscles), and cardiac issues should consider this test. Additionally, those with a family history of Myotonic Dystrophy Type 1 are encouraged to undergo testing due to the hereditary nature of the disorder.
Benefits of Taking the Test
- Early diagnosis allows for timely intervention and management of symptoms.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the prognosis and potential complications associated with the disorder.
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, while a negative result may suggest that the symptoms are due to another cause. It is important to discuss your results with a healthcare professional for comprehensive interpretation and advice on the next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Myotonic Dystrophy Type 1 Test | 17,000 KSh | 30,000 KSh |
Sample Collection Details
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 for processing.
Turnaround Time
Sample must be submitted by Monday 11 am; reports will be ready by Friday.
Book Your Test Today!
We have branches across Kenya and offer home sample collection services. To book the Myotonic Dystrophy Type 1 Test or for more information, call or WhatsApp us at +254711564616.
