DNAJC5 Gene Ceroid Lipofuscinosis Neuronal Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neuronal Ceroid Lipofuscinosis
The DNAJC5 Gene Ceroid Lipofuscinosis Neuronal Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurodegenerative disorders. This advanced testing methodology employs next-generation sequencing (NGS) technology to precisely identify mutations in the DNAJC5 gene, which plays a critical role in neuronal function and cellular waste management. Neuronal ceroid lipofuscinosis type 4, also known as Kufs disease, is a progressive neurological condition characterized by the accumulation of lipopigments in neurons, leading to severe neurological deterioration.
What This Test Measures and Detects
Our comprehensive genetic test specifically targets the DNAJC5 gene, analyzing its complete coding regions and adjacent intronic boundaries to identify pathogenic variants associated with neuronal ceroid lipofuscinosis type 4. The test detects:
- Point mutations and small insertions/deletions in the DNAJC5 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Splice site variants that may disrupt normal gene expression
- Copy number variations and structural rearrangements
- Autosomal dominant inheritance patterns characteristic of this condition
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Patients experiencing progressive neurological deterioration in adulthood
- Individuals with unexplained seizures, cognitive decline, or movement disorders
- Patients showing symptoms of dementia with onset before age 40
- Individuals with family history of neuronal ceroid lipofuscinosis or similar neurodegenerative conditions
- Patients with abnormal neurological findings and suspected metabolic disorders
- Those with clinical features including ataxia, myoclonus, or visual impairment
Key Benefits of DNAJC5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive molecular confirmation of neuronal ceroid lipofuscinosis type 4
- Early Intervention: Enables timely management strategies before significant neurological damage occurs
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Personalized Treatment: Guides development of targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and anticipate future healthcare needs
- Research Contribution: Advances scientific understanding of rare neurodegenerative disorders
Understanding Your Test Results
Our comprehensive genetic testing provides detailed insights into your DNAJC5 gene status:
- Positive Result: Indicates the presence of a pathogenic mutation in the DNAJC5 gene, confirming the diagnosis of neuronal ceroid lipofuscinosis type 4. This result enables targeted management and family screening.
- Negative Result: Suggests that no pathogenic variants were detected in the DNAJC5 gene, though clinical correlation remains essential as other genetic or environmental factors may contribute to symptoms.
- Variant of Uncertain Significance: Some genetic changes may have unclear clinical implications, requiring additional family studies or research correlation.
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring comprehensive understanding and appropriate next steps.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| DNAJC5 Gene Ceroid Lipofuscinosis Neuronal Type 4 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services 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 state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take Control of Your Genetic Health Today
Early genetic testing for neuronal ceroid lipofuscinosis type 4 can significantly impact treatment outcomes and quality of life. Our experienced genetic counselors and medical specialists are available to guide you through the testing process and help interpret your results. Don’t wait to get the answers you need for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your DNAJC5 genetic test consultation and take the first step toward comprehensive neurological health assessment.
