SMN1 Gene Spinal Muscular Atrophy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Spinal Muscular Atrophy Type 1
Spinal Muscular Atrophy (SMA) Type 1 represents one of the most severe inherited neurological disorders affecting infants and young children. Our advanced SMN1 Gene NGS Genetic DNA Test provides definitive diagnosis and carrier screening for this life-altering condition. Using state-of-the-art Next-Generation Sequencing technology, we deliver precise genetic analysis that empowers families with critical health information.
What This Revolutionary Test Measures
The SMN1 Gene Spinal Muscular Atrophy Type 1 NGS Genetic DNA Test specifically analyzes:
- SMN1 gene deletions and mutations responsible for SMA Type 1
- Copy number variations in the SMN1 gene region
- Specific genetic markers associated with disease severity
- Carrier status identification for family planning
- Comprehensive genetic profiling using advanced NGS methodology
Who Should Consider This Essential Genetic Test
This critical genetic screening is recommended for:
- Infants showing symptoms of muscle weakness or poor muscle tone
- Children with delayed motor milestones or progressive weakness
- Individuals with family history of Spinal Muscular Atrophy
- Couples planning pregnancy with known SMA risk factors
- Siblings of diagnosed SMA patients for carrier status determination
- Adults experiencing unexplained progressive muscle weakness
Early Warning Signs and Symptoms
Recognizing early symptoms is crucial for timely intervention:
- Progressive muscle weakness beginning in infancy
- Poor head control and difficulty sitting independently
- Respiratory challenges and weak cry
- Difficulty swallowing and feeding problems
- Absent or diminished deep tendon reflexes
- Muscle fasciculations (twitching) of the tongue
Transformative Benefits of Early Genetic Testing
Proactive Healthcare Management
Early detection through our SMN1 genetic test enables:
- Timely intervention with emerging SMA treatments
- Access to specialized neuromuscular care programs
- Implementation of supportive therapies and respiratory care
- Family planning guidance and genetic counseling
- Participation in clinical trials and advanced treatment protocols
Family Planning and Genetic Counseling
Our comprehensive approach includes:
- Detailed genetic counseling sessions
- Family pedigree analysis and risk assessment
- Reproductive options and prenatal testing information
- Multi-generational family impact evaluation
- Ongoing support and resource coordination
Understanding Your Genetic Test Results
Interpretation and Next Steps
Your SMN1 Gene Test results will provide clear guidance:
- Positive Result: Indicates presence of SMN1 gene mutations associated with SMA Type 1. Immediate consultation with a neurologist and genetic counselor is recommended.
- Negative Result: No detected SMN1 mutations. Provides reassurance but continued monitoring may be advised based on clinical presentation.
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but do not show symptoms. Essential information for family planning.
- Inconclusive Results: Rare cases requiring additional testing or family member analysis for complete interpretation.
Clinical Correlation and Follow-up
All results are interpreted in the context of:
- Clinical symptoms and physical examination findings
- Family history and genetic background
- Additional diagnostic testing as needed
- Multi-disciplinary team evaluation
- Long-term management planning
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SMN1 Gene Spinal Muscular Atrophy Type 1 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 |
| Specialty | Neurology & Genetics |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
To ensure accurate results, please provide:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed family pedigree chart documenting affected relatives
- Informed consent for genetic testing
- Insurance information and physician referral when applicable
Nationwide Accessibility and Convenience
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas 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 consistent, high-quality service regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about Spinal Muscular Atrophy risk. Our expert team of genetic counselors and neurologists are ready to guide you through the testing process and provide comprehensive support. Early detection can make a significant difference in treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SMN1 Gene Spinal Muscular Atrophy Type 1 NGS Genetic DNA Test. Our compassionate team will answer all your questions, help with insurance verification, and coordinate testing at your nearest location. Take the first step toward genetic clarity and peace of mind.
