NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced testing methodology provides definitive answers for individuals and families affected by Niemann-Pick disease type C2, a progressive neurodegenerative condition characterized by abnormal cholesterol metabolism and cellular dysfunction.
What is Niemann-Pick Disease Type C2?
Niemann-Pick disease type C2 is an autosomal recessive lysosomal storage disorder caused by mutations in the NPC2 gene. This condition disrupts intracellular cholesterol transport, leading to accumulation of cholesterol and other lipids within lysosomes. The resulting cellular dysfunction primarily affects the nervous system, liver, and spleen, causing progressive neurological deterioration and systemic complications.
What the Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the entire NPC2 gene to identify pathogenic variants responsible for Niemann-Pick disease type C2. The test specifically detects:
- Point mutations, insertions, and deletions in the NPC2 gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Compound heterozygous mutations
- Novel genetic variants with clinical significance
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing 99.9% coverage of the NPC2 gene coding regions with exceptional accuracy and reliability.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including ataxia, dystonia, or vertical supranuclear gaze palsy
- Progressive cognitive decline or dementia in childhood or adolescence
- Developmental delays and learning disabilities
- Hepatosplenomegaly (enlarged liver and spleen) without clear cause
- Psychiatric symptoms including psychosis or catatonia
- Family history of Niemann-Pick disease or unexplained neurological disorders
- Consanguineous parents or known carrier status in family members
Benefits of Taking the NPC2 Genetic Test
Early and accurate diagnosis through genetic testing provides numerous advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment approaches
- Early Intervention: Facilitates timely management strategies to slow disease progression
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Personalized Care: Guides appropriate therapeutic interventions and symptom management
- Clinical Trial Eligibility: Opens opportunities for participation in emerging treatment studies
- Prognostic Information: Helps predict disease course and anticipate future needs
Understanding Your Test Results
Interpretation and Clinical Implications
Our comprehensive genetic counseling services ensure proper understanding of your test results:
- Positive Result: Identification of two pathogenic mutations confirms Niemann-Pick disease type C2 diagnosis and enables immediate intervention planning
- Carrier Status: Detection of a single mutation indicates carrier status with important implications for family members
- Negative Result: No pathogenic mutations detected significantly reduces likelihood of NPC2-related disease
- Variant of Uncertain Significance: Rare genetic changes requiring additional family studies and clinical correlation
All results include detailed interpretation by board-certified geneticists and recommendations for next steps in clinical management.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test | $700 USD | $500 USD |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with Niemann-Pick disease type C2
- Informed consent for genetic testing
Nationwide Accessibility
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and all principal cities. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our discounted price of $500 (regularly $700), comprehensive genetic counseling, and nationwide availability, there’s never been a better time to pursue genetic clarity.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through every step of the testing process and help you understand your results with compassion and expertise.
