SMN1 Gene Spinal Muscular Atrophy Type 2 NGS Genetic DNA Test
Comprehensive Introduction to SMA Type 2 Genetic Testing
Spinal Muscular Atrophy (SMA) Type 2 is a serious genetic neuromuscular disorder that affects the motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The SMN1 Gene Spinal Muscular Atrophy Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics, offering precise detection of mutations responsible for this condition. This advanced testing method provides crucial information for early diagnosis, treatment planning, and genetic counseling.
What the Test Measures and Detects
This sophisticated genetic test specifically targets the SMN1 (Survival Motor Neuron 1) gene using Next-Generation Sequencing technology to identify:
- Homozygous deletions in exon 7 of the SMN1 gene
- Point mutations and small deletions/insertions in the SMN1 gene
- Gene conversion events between SMN1 and SMN2 genes
- Specific genetic variants associated with SMA Type 2 severity
- Carrier status for family planning purposes
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals exhibiting:
- Progressive muscle weakness beginning in early childhood (6-18 months)
- Delayed motor milestones or regression of motor skills
- Muscle atrophy, particularly in legs and trunk muscles
- Difficulty sitting independently or inability to stand/walk
- Family history of Spinal Muscular Atrophy
- Parents planning pregnancy with known SMA family history
- Siblings of diagnosed SMA patients for carrier screening
Benefits of Taking the SMN1 Genetic Test
Early genetic testing for SMA Type 2 provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and treatment initiation
- Treatment Planning: Guides appropriate therapeutic approaches including gene therapy options
- Genetic Counseling: Provides essential information for family planning decisions
- Proactive Management: Allows for comprehensive care planning and symptom management
- Carrier Identification: Helps identify at-risk family members
- Peace of Mind: Reduces uncertainty through definitive genetic information
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates presence of SMN1 gene mutations consistent with SMA Type 2 diagnosis
- Negative Result: No detectable SMN1 mutations found, significantly reducing SMA risk
- Carrier Status: Identifies individuals with one copy of mutated SMN1 gene
- Variant of Unknown Significance: Rare genetic changes requiring further evaluation
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SMN1 Gene Spinal Muscular Atrophy Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate testing and comprehensive care:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Documentation of affected family members
- Neurological assessment when indicated
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about Spinal Muscular Atrophy Type 2. Our advanced NGS genetic testing provides the clarity and information necessary for informed healthcare decisions. With our discounted pricing and comprehensive genetic counseling services, you can approach your genetic health with confidence.
Ready to schedule your SMN1 Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
