Spinal Muscular Atrophy SMA Mutation Detection Test
Introduction
The Spinal Muscular Atrophy SMA Mutation Detection Test is a critical diagnostic tool used to identify mutations in the SMN1 gene, which are responsible for spinal muscular atrophy (SMA), a severe genetic disorder affecting motor neurons in the spinal cord. Early detection of SMA is crucial as it allows for timely intervention and management, significantly improving the quality of life for affected individuals.
What the Test Measures
This test specifically detects mutations in the SMN1 gene. By analyzing a sample of whole blood, healthcare professionals can determine the presence of these mutations, confirming a diagnosis of SMA.
Who Should Consider This Test
Individuals with a family history of spinal muscular atrophy or those exhibiting symptoms such as muscle weakness, difficulty in movement, or respiratory issues should consider this test. Additionally, prenatal testing can be beneficial for families at risk of passing on the disorder.
Benefits of Taking the Test
- Early diagnosis allows for timely treatment and management strategies.
- Helps in understanding the genetic basis of the disorder.
- Provides families with crucial information for family planning.
- Enables healthcare providers to tailor interventions based on genetic findings.
Understanding Your Results
Results from the Spinal Muscular Atrophy SMA Mutation Detection Test will indicate whether mutations in the SMN1 gene are present. A positive result confirms the diagnosis of SMA, while a negative result suggests that the individual does not carry the mutations associated with the disorder. It is important to discuss results with a healthcare provider for proper interpretation and guidance.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Spinal Muscular Atrophy SMA Mutation Detection Test | 280000 NGN | 400000 NGN |
How to Book the Test
To book the Spinal Muscular Atrophy SMA Mutation Detection Test, please contact us at +2348077798758. Ensure to have the duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your sample.
Test Details
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Turnaround Time: Sample must be submitted by Monday 11 am; report available by Saturday.
- Specialty: Neurologist
- Department: Molecular Diagnostics
- Method: MLPA
- Disease Type: Genetic Disorders
Take control of your health today by booking the Spinal Muscular Atrophy SMA Mutation Detection Test at DNA Labs Nigeria!