PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the PFN1 (Profilin 1) gene, which has been identified as a significant contributor to familial amyotrophic lateral sclerosis type 18. ALS type 18 is a progressive neurodegenerative disorder affecting motor neurons, leading to muscle weakness, atrophy, and eventual paralysis.
What Does This Test Measure?
Our NGS-based genetic test comprehensively analyzes the PFN1 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions within the gene sequence
- Copy number variations affecting PFN1 expression
- Pathogenic variants linked to ALS type 18 development
- Inheritance patterns and familial risk assessment
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Progressive muscle weakness and atrophy
- Family history of ALS or motor neuron disorders
- Early-onset neurological symptoms before age 50
- Difficulty with speech, swallowing, or breathing
- Muscle cramps, twitching, or stiffness
- Unexplained weight loss and fatigue
Key Benefits of PFN1 Genetic Testing
- Early Diagnosis: Detect genetic predisposition before significant symptom development
- Personalized Treatment: Guide therapeutic interventions based on genetic profile
- Family Planning: Understand inheritance risks for future generations
- Clinical Management: Optimize symptom management and quality of life
- Research Contribution: Advance understanding of ALS type 18 genetics
Understanding Your Test Results
Our comprehensive genetic counseling helps interpret your results:
- Positive Result: Indicates presence of PFN1 mutation; enables proactive management
- Negative Result: No detected mutation; reduces ALS type 18 risk concerns
- Variant of Uncertain Significance: Requires ongoing monitoring and family studies
- Carrier Status: Important for family planning and genetic counseling
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers across all major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Neurological Health
Early genetic testing for PFN1 mutations can provide critical insights for managing ALS type 18 risks. Our comprehensive approach includes pre-test genetic counseling to create detailed family pedigree charts and post-test result interpretation. With a turnaround time of 3-4 weeks and multiple sample collection options (blood, extracted DNA, or blood spot cards), we make genetic testing accessible and convenient.
Ready to take the next step in understanding your genetic health? Book your PFN1 Gene ALS Type 18 NGS Genetic DNA Test today by calling +1(267) 388-9828 or schedule your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
