Spinobulbar Muscular Atrophy Genetic Test
Understanding Spinobulbar Muscular Atrophy
Spinobulbar Muscular Atrophy (SBMA), also known as Kennedy’s disease, is a rare inherited neurodegenerative disorder that primarily affects males. This progressive condition targets both motor neurons in the spinal cord and brainstem, leading to gradual muscle weakness and atrophy. Our comprehensive genetic test provides definitive diagnosis by identifying specific mutations in the androgen receptor gene, offering clarity and direction for patients and families affected by this challenging condition.
What This Test Measures
The Spinobulbar Muscular Atrophy Test specifically detects CAG trinucleotide repeat expansions in the AR (Androgen Receptor) gene located on the X chromosome. This genetic abnormality causes the production of an abnormal protein that accumulates in motor neurons, leading to their gradual degeneration. Our advanced molecular diagnostics utilize:
- PCR amplification for precise gene analysis
- Fragment analysis to detect repeat expansions
- Comprehensive mutation detection for accurate diagnosis
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms suggestive of SBMA or those with a family history of the condition. Key indicators include:
- Progressive muscle weakness in limbs
- Difficulty with speech and swallowing (bulbar symptoms)
- Muscle cramps and fasciculations
- Gynecomastia (breast enlargement in males)
- Reduced fertility or testicular atrophy
- Family history of similar neuromuscular symptoms
Clinical Benefits of Testing
Early and accurate diagnosis through genetic testing provides numerous advantages:
- Definitive confirmation of Kennedy’s disease
- Personalized treatment and management strategies
- Family planning guidance and genetic counseling
- Elimination of unnecessary diagnostic procedures
- Access to specialized neuromuscular care
- Participation in clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Normal Range: CAG repeats typically range from 9-36
- Intermediate Range: 37-38 repeats may indicate carrier status
- Disease Range: 39+ CAG repeats confirm SBMA diagnosis
All positive results include detailed genetic counseling to help you understand the implications and next steps. Our expert team provides guidance on disease progression, management options, and family risk assessment.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| Spinobulbar Muscular Atrophy Test | $450 USD | $276 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Sample Requirements and Processing
For accurate testing, we require:
- 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube
- Shipment under refrigerated conditions – DO NOT FREEZE
- Completed Genomics Clinical Information Requisition Form (Form 20)
Turnaround Time: Samples received by Tuesday 11:00 AM will have results available by Saturday.
Take Control of Your Neuromuscular Health
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our Spinobulbar Muscular Atrophy Test provides the clarity you need to make informed healthcare decisions. With specialized genetic expertise and comprehensive counseling support, we’re here to guide you through every step of the diagnostic process.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care.