Spinal Muscular Atrophy Gene Panel: Comprehensive Genetic Screening
Understanding Spinal Muscular Atrophy Genetic Testing
Spinal Muscular Atrophy (SMA) represents a group of inherited genetic disorders characterized by progressive muscle weakness and degeneration. The Spinal Muscular Atrophy Gene Panel is a sophisticated diagnostic tool that employs next-generation sequencing (NGS) technology to identify mutations in the survival motor neuron 1 (SMN1) gene, which is primarily responsible for SMA development. This comprehensive genetic screening provides crucial insights for individuals and families affected by or at risk for this debilitating condition.
What Does the SMA Gene Panel Detect?
The Spinal Muscular Atrophy Gene Panel specifically targets and analyzes:
- SMN1 gene deletions and mutations
- SMN2 gene copy number variations
- Point mutations affecting motor neuron function
- Genetic variations associated with SMA severity
- Carrier status for autosomal recessive inheritance
Who Should Consider Spinal Muscular Atrophy Testing?
This genetic panel is recommended for individuals experiencing or concerned about:
- Unexplained progressive muscle weakness
- Family history of spinal muscular atrophy
- Couples planning pregnancy with known SMA risk factors
- Parents of children with developmental motor delays
- Individuals with siblings diagnosed with SMA
- Those experiencing muscle twitching or fasciculations
- People with reduced deep tendon reflexes
- Individuals with breathing difficulties related to muscle weakness
Clinical Benefits of SMA Genetic Testing
Undergoing the Spinal Muscular Atrophy Gene Panel offers numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Informs appropriate therapeutic approaches
- Prognostic Information: Helps predict disease progression and severity
- Carrier Identification: Determines genetic risk for future generations
- Peace of Mind: Reduces uncertainty about genetic predisposition
Understanding Your Test Results
Your Spinal Muscular Atrophy Gene Panel results will be carefully interpreted by our genetic specialists:
- Normal Results: No detected SMN1 gene mutations; typical SMN2 copy numbers
- Carrier Status: One mutated SMN1 gene copy with normal motor function
- Affected Individual: Two mutated SMN1 gene copies indicating SMA diagnosis
- SMN2 Copy Variations: Additional copies may modify disease severity
- Variant of Uncertain Significance: Rare genetic changes requiring further evaluation
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Spinal Muscular Atrophy Gene Panel |
| Discount Price | $500 USD |
| Regular Price | $1200 USD |
| Turnaround Time | 4-6 weeks |
| Sample Type | Amniotic fluid, Chorionic villi, Peripheral blood |
| Test Components | Sterile container, Sterile Normal Saline Container, EDTA Vacutainer |
| Prescription Required | Doctor’s prescription needed (not applicable for surgery, pregnancy, or travel abroad cases) |
Nationwide Testing Availability
We proudly offer the Spinal Muscular Atrophy Gene Panel across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities nationwide. This ensures accessible genetic testing services for patients across the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about spinal muscular atrophy affect your family’s future. Our comprehensive genetic panel provides the clarity and information needed to make informed healthcare decisions. With advanced NGS technology and expert genetic counseling, we deliver accurate, reliable results you can trust.
Ready to schedule your Spinal Muscular Atrophy Gene Panel? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.

