SMN1 Gene Spinal Muscular Atrophy Type 3 NGS Genetic DNA Test
Understanding Spinal Muscular Atrophy Type 3 Genetic Testing
Spinal Muscular Atrophy (SMA) Type 3 is a progressive neuromuscular disorder that affects motor neurons in the spinal cord, leading to muscle weakness and atrophy. The SMN1 Gene Spinal Muscular Atrophy Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics, offering comprehensive analysis of the SMN1 gene mutations responsible for this condition. This advanced testing methodology provides crucial information for diagnosis, prognosis, and treatment planning.
What Does the SMN1 Gene Test Measure?
Our NGS-based genetic test specifically targets the survival motor neuron 1 (SMN1) gene located on chromosome 5q13. The test detects:
- Homozygous deletions of exon 7 in the SMN1 gene
- Point mutations and small sequence variations
- Gene conversion events between SMN1 and SMN2 genes
- Copy number variations affecting SMN1 gene dosage
- Specific genetic markers associated with SMA Type 3 severity
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Progressive muscle weakness beginning in childhood or adolescence
- Difficulty with walking, running, or climbing stairs
- Muscle tremors or fasciculations
- Delayed motor milestones in childhood
- Family history of Spinal Muscular Atrophy
- Unexplained progressive muscle wasting
- Abnormal gait or posture changes
At-Risk Populations
- Children and adolescents with unexplained muscle weakness
- Individuals with family members diagnosed with SMA
- Couples planning pregnancy with SMA family history
- Patients with suspected neuromuscular disorders
Benefits of SMN1 Genetic Testing
Early and accurate genetic testing provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out SMA Type 3 with high accuracy
- Treatment Guidance: Informs appropriate therapeutic interventions
- Family Planning: Enables informed reproductive decisions
- Prognostic Information: Helps predict disease progression and severity
- Clinical Trial Eligibility: Qualifies patients for emerging SMA treatments
- Peace of Mind: Provides clarity for patients and families
Understanding Your Test Results
Possible Outcomes and Their Meanings
Your genetic test results will fall into one of these categories:
Positive Result
A positive result indicates the presence of SMN1 gene mutations associated with Spinal Muscular Atrophy Type 3. This confirms the diagnosis and enables:
- Immediate referral to neuromuscular specialists
- Initiation of appropriate supportive care
- Family member testing recommendations
- Access to SMA-specific treatments and therapies
Negative Result
A negative result suggests that SMN1 gene mutations were not detected, effectively ruling out SMA Type 3. However, further evaluation may be needed for other neuromuscular conditions.
Carrier Status
Some individuals may be identified as carriers, having one copy of the mutated gene. This information is valuable for family planning and genetic counseling.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SMN1 Gene Spinal Muscular Atrophy Type 3 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Development of a detailed family pedigree chart
- Documentation of affected family members
- Informed consent for genetic testing
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 counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Spinal Muscular Atrophy Type 3 affect your quality of life. Our advanced SMN1 genetic testing provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD, comprehensive genetic analysis is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our team of genetic counselors and neurologists is standing by to answer your questions, schedule your test, and guide you through every step of the genetic testing process. Early detection through comprehensive genetic testing can make a significant difference in managing Spinal Muscular Atrophy Type 3 effectively.
