Spinal Muscular Atrophy SMA Mutation Detection Test
Comprehensive Genetic Screening for Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) represents one of the most common genetic disorders affecting the nervous system, characterized by progressive muscle weakness and degeneration. Our SMA Mutation Detection Test provides a sophisticated diagnostic approach to identify genetic mutations in the SMN1 gene, offering critical insights for individuals and families affected by or at risk for this condition.
What Does the SMA Mutation Detection Test Measure?
This advanced genetic screening specifically targets mutations in the survival motor neuron 1 (SMN1) gene, which is responsible for producing the SMN protein essential for motor neuron health. The test utilizes Multiplex Ligation-dependent Probe Amplification (MLPA) technology to detect:
- Homozygous deletion of exon 7 in the SMN1 gene
- Compound heterozygous mutations affecting SMA development
- Carrier status identification for family planning purposes
- Gene copy number variations critical for SMA diagnosis
Who Should Consider SMA Genetic Testing?
This comprehensive screening is particularly recommended for:
- Individuals with family history of SMA: Those with relatives diagnosed with spinal muscular atrophy
- Couples planning pregnancy: Preconception screening for carrier status
- Newborns and infants: Early detection in cases of developmental delays or muscle weakness
- Individuals experiencing symptoms: Progressive muscle weakness, difficulty walking, or respiratory challenges
- Prenatal screening: For families with known SMA risk factors
Key Benefits of SMA Mutation Detection
Early identification through genetic testing provides numerous advantages:
- Early Intervention: Enables timely treatment initiation with disease-modifying therapies
- Family Planning: Provides crucial information for reproductive decisions
- Accurate Diagnosis: Eliminates diagnostic uncertainty and enables proper disease classification
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Proactive Management: Allows for comprehensive care planning and symptom management
Understanding Your Test Results
Our comprehensive reporting provides clear interpretation of your genetic findings:
- Normal Results: Indicates typical SMN1 gene copies with no detected mutations
- Carrier Status: Identifies individuals with one mutated SMN1 gene copy
- Affected Status: Confirms homozygous mutations consistent with SMA diagnosis
- Genetic Counseling: Results are accompanied by professional guidance for next steps
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $350 |
| Regular Price | $500 |
Nationwide Testing Availability
We proudly offer SMA Mutation Detection testing across our extensive network of diagnostic centers throughout the United States. Our facilities are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the highest standards of genetic testing excellence and patient care.
Sample Requirements and Processing
For optimal testing accuracy, please note the following requirements:
- Sample Type: 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube
- Shipping Instructions: Ship refrigerated – DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20)
- Turnaround Time: Sample received by Monday 11 AM; Report delivered by Saturday
Take Control of Your Genetic Health Today
Don’t leave your genetic health to chance. Our Spinal Muscular Atrophy SMA Mutation Detection Test provides the clarity and confidence you need for informed health decisions. With advanced MLPA technology and expert interpretation, you’ll receive comprehensive insights into your genetic profile.
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 proactive genetic health management and peace of mind.
