CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Neurological Disorders
The CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare inherited metabolic disorders affecting the nervous system. This advanced genetic screening utilizes cutting-edge next-generation sequencing technology to identify mutations in the CTSD gene, which encodes the enzyme cathepsin D. When this enzyme functions improperly, it leads to the accumulation of lipofuscin deposits in neurons, causing progressive neurological deterioration characteristic of neuronal ceroid lipofuscinosis type 10.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- Complete sequencing of the CTSD gene to identify pathogenic variants
- Detection of point mutations, insertions, deletions, and splice site variants
- Assessment of autosomal recessive inheritance patterns
- Identification of compound heterozygous mutations
- Analysis of genetic markers associated with disease severity and progression
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or adolescence
- Developmental regression or loss of previously acquired skills
- Seizures that are difficult to control with standard medications
- Motor coordination difficulties and movement disorders
- Cognitive decline and behavioral changes
- Family history of neuronal ceroid lipofuscinosis or similar neurological conditions
- Unexplained neurological symptoms in multiple family members
Significant Benefits of Genetic Testing
Undergoing the CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Early Intervention: Enables timely management strategies and supportive care
- Family Planning: Informs reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances scientific understanding of rare neurological disorders
- Peace of Mind: Reduces diagnostic uncertainty and provides clarity for affected families
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the CTSD gene, confirming the diagnosis of neuronal ceroid lipofuscinosis type 10
- Negative Result: Suggests that no disease-causing mutations were detected in the CTSD gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for follow-up care with genetic specialists.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 NGS Genetic DNA Test | 500 USD | 700 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with conveniently located branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent quality and reliable results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide the answers you need. Schedule your CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 NGS Genetic DNA Test today and take control of your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about this essential genetic screening.
