Spinobulbar Muscular Atrophy Test
Introduction
The Spinobulbar Muscular Atrophy Test is a crucial diagnostic tool for identifying spinobulbar muscular atrophy (SBMA), a genetic disorder that primarily affects motor neurons in the spinal cord and brainstem. This test is vital for early diagnosis, enabling better management and intervention strategies for affected individuals.
What the Test Measures
This test specifically detects mutations in the AR (Androgen Receptor) gene, which are responsible for the development of SBMA. By analyzing the genetic material, healthcare professionals can confirm the presence of these mutations and provide appropriate care.
Who Should Consider This Test
Individuals who exhibit symptoms such as muscle weakness, atrophy, and difficulty with speech or swallowing should consider this test. Additionally, those with a family history of neurologic disorders or SBMA may be at higher risk and should consult their healthcare provider about testing.
Benefits of Taking the Test
- Early diagnosis allows for timely intervention and management.
- Helps in understanding the genetic basis of the disorder.
- Provides valuable information for family planning and genetic counseling.
- Enables personalized treatment approaches based on genetic findings.
Understanding Your Results
Results are typically available within a week after sample submission. A positive result indicates the presence of mutations in the AR gene, confirming a diagnosis of SBMA. It is essential to discuss the results with a healthcare professional who can provide guidance on the next steps and management options.
Test Pricing
Discount Price | Regular Price |
---|---|
220,000 NGN | 360,000 NGN |
How to Book the Test
To book the Spinobulbar Muscular Atrophy Test, please contact us via phone or WhatsApp at +2348077798758. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your test.
Test Details
Turnaround Time: Sample Tuesday by 11 am; Report Saturday
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Department: Molecular Diagnostics
Method: PCR, Fragment Analysis
Disease Type: Neurologic Disorder