TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test
Understanding TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease), commonly referred to as late infantile Batten disease, represents a rare inherited neurodegenerative disorder affecting the central nervous system. This progressive condition results from mutations in the TPP1 gene, which encodes the enzyme tripeptidyl peptidase 1. The TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test employs advanced next-generation sequencing technology to provide comprehensive analysis of this critical genetic marker, enabling early diagnosis and informed medical decision-making.
What Does This Test Detect?
Our sophisticated NGS-based genetic test specifically targets and analyzes the TPP1 gene to identify pathogenic variants responsible for neuronal ceroid lipofuscinosis type 2. The test examines:
- Complete TPP1 gene sequencing for comprehensive mutation detection
- Point mutations, deletions, and insertions affecting enzyme function
- Genetic variants that impair tripeptidyl peptidase 1 enzyme activity
- Inheritance patterns for family genetic counseling
- Carrier status identification in asymptomatic individuals
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with symptoms suggestive of neuronal ceroid lipofuscinosis type 2, including:
- Children experiencing developmental regression between ages 2-4
- Progressive vision loss and retinal degeneration
- Treatment-resistant seizures and epilepsy
- Cognitive decline and loss of previously acquired skills
- Motor coordination difficulties and ataxia
- Speech deterioration and communication challenges
- Family history of Batten disease or similar neurodegenerative conditions
- Couples with family history considering pregnancy planning
Benefits of TPP1 Genetic Testing
Undergoing the TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test offers numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clarity about disease progression and expected outcomes
- Family Planning: Informs reproductive decisions and genetic counseling
- Treatment Guidance: Supports appropriate therapeutic approaches including enzyme replacement therapy
- Clinical Trial Eligibility: Facilitates participation in emerging treatment studies
- Psychological Relief: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your TPP1 gene test results:
- Positive Result: Indicates presence of pathogenic TPP1 mutations confirming CLN2 diagnosis
- Negative Result: Suggests absence of detectable TPP1 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Reveals individuals with one mutated TPP1 gene copy who may pass the condition to offspring
All results are accompanied by detailed explanations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other locations. With convenient sample collection options and streamlined processing, we ensure accessible genetic testing for families nationwide.
Schedule Your Genetic Test Today
Take the first step toward clarity and comprehensive genetic understanding. Our dedicated team of genetic specialists is ready to assist you with the TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test. Contact us now to schedule your appointment and begin your journey toward accurate diagnosis and informed healthcare decisions.
Call or WhatsApp: +1(267) 388-9828
Our genetic counselors are available to discuss testing options, answer questions about the procedure, and provide guidance throughout the testing process. Don’t wait – secure your genetic testing appointment today and gain valuable insights into your health and family’s future.
