NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Niemann-Pick disease type C1. This progressive, neurodegenerative condition affects cellular cholesterol metabolism and leads to severe neurological complications. Our advanced testing methodology provides families and healthcare providers with definitive answers for accurate diagnosis and informed treatment planning.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the NPC1 gene, which plays a critical role in intracellular cholesterol transport. The test utilizes next-generation sequencing (NGS) technology to identify:
- Pathogenic variants in the NPC1 gene responsible for Niemann-Pick disease type C1
- Missense, nonsense, and frameshift mutations affecting protein function
- Deletions and insertions that disrupt normal gene expression
- Splice site variants that impact mRNA processing
- Compound heterozygous mutations in affected individuals
Who Should Consider This Genetic Test?
This diagnostic test is particularly recommended for individuals presenting with:
- Unexplained neurological deterioration in childhood or adolescence
- Progressive ataxia and coordination difficulties
- Vertical supranuclear gaze palsy (difficulty moving eyes vertically)
- Dementia or cognitive decline in young patients
- Developmental delays and learning disabilities
- Seizures without clear etiology
- Gelastic cataplexy (sudden loss of muscle tone triggered by laughter)
- Family history of Niemann-Pick disease or similar neurological conditions
- Siblings of diagnosed individuals for carrier status determination
Significant Benefits of Early Genetic Testing
Undergoing the NPC1 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment approaches
- Early Intervention: Facilitates timely implementation of supportive therapies and symptom management
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Insights: Helps predict disease progression and anticipate future care needs
- Clinical Trial Eligibility: Opens access to emerging treatments and research opportunities
- Psychological Relief: Reduces anxiety by providing definitive answers about the condition
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of pathogenic NPC1 mutations, confirming Niemann-Pick disease type C1 diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without disease manifestation
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test – Discount Price | $500 |
| NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient 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 ensures accessible genetic testing services regardless of your location.
Pre-Test Requirements and Sample Collection
To ensure optimal testing accuracy, we require:
- Complete clinical history documentation for the patient
- Genetic counseling session to create detailed family pedigree charts
- Sample collection through blood draw, extracted DNA, or single blood drop on FTA card
- Turnaround time of 3-4 weeks for comprehensive analysis and reporting
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our NPC1 genetic testing provides the clarity needed for informed healthcare decisions and proper disease management. Early detection can significantly impact treatment outcomes and family planning considerations.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic testing appointment. Our genetic specialists are available to answer your questions and guide you through the testing process. Take the first step toward definitive diagnosis and personalized care management.
