Spinal Muscular Atrophy SMA Mutation Detection Test
Introduction
The Spinal Muscular Atrophy SMA Mutation Detection Test is an essential diagnostic tool used to identify mutations in the SMN1 gene, which are responsible for Spinal Muscular Atrophy (SMA). SMA is a genetic disorder characterized by the degeneration of motor neurons, leading to muscle weakness and atrophy. Early detection through this test can significantly improve patient outcomes by facilitating timely intervention and management strategies.
What the Test Measures
This test specifically measures the presence of mutations in the SMN1 gene, which is critical for the production of a protein necessary for motor neuron health. By analyzing the genetic material from a blood sample, healthcare providers can determine whether an individual is a carrier of the SMA mutation or affected by the condition.
Who Should Consider This Test?
Individuals who may benefit from the Spinal Muscular Atrophy SMA Mutation Detection Test include:
- Those with a family history of SMA or related genetic disorders.
- Individuals exhibiting symptoms such as muscle weakness, difficulty in mobility, or respiratory issues.
- Expectant parents who want to assess the risk of passing SMA to their child.
Benefits of Taking the Test
The benefits of undergoing the Spinal Muscular Atrophy SMA Mutation Detection Test include:
- Early diagnosis and intervention, which can improve quality of life.
- Informed family planning decisions for prospective parents.
- Access to tailored treatment options based on genetic findings.
Understanding Your Results
Results from the SMA Mutation Detection Test will indicate whether the SMN1 gene mutation is present. A positive result may signify the need for further clinical evaluation and management, while a negative result can provide reassurance for individuals and families. It is essential to discuss results with a healthcare provider to understand their implications fully.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Spinal Muscular Atrophy SMA Mutation Detection Test | 28,000 KSh | 40,000 KSh |
Sample Collection and Requirements
To conduct this test, a sample of 4 mL (minimum 2 mL) of whole blood must be collected in a Lavender top (EDTA) tube. The sample should be shipped refrigerated and must not be frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for processing.
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and Nakuru. For your convenience, we also offer home sample collection services. To book the Spinal Muscular Atrophy SMA Mutation Detection Test, please call or WhatsApp us at +254711564616.
Conclusion
Understanding your genetic health is crucial for making informed decisions. The Spinal Muscular Atrophy SMA Mutation Detection Test is a vital step in identifying potential risks associated with SMA. Don’t wait—book your test today!
