CLN3 Gene Ceroid Lipofuscinosis Neuronal Type 3 NGS Genetic DNA Test
Understanding CLN3 Gene Testing and Batten Disease
The CLN3 Gene Ceroid Lipofuscinosis Neuronal Type 3 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for Batten disease, a rare inherited neurodegenerative disorder affecting children and young adults. This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to identify mutations in the CLN3 gene, which plays a crucial role in cellular function and neuronal health. Early detection through this test can provide families with critical information for managing this progressive condition and making informed healthcare decisions.
What Does the CLN3 Gene Test Measure?
This sophisticated genetic test specifically targets the CLN3 gene located on chromosome 16, analyzing it for pathogenic variants that cause neuronal ceroid lipofuscinosis type 3. The test examines:
- Point mutations, deletions, and insertions in the CLN3 gene
- The common 1.02 kb deletion that accounts for approximately 85% of disease-causing mutations
- Rare and novel variants that may contribute to disease development
- Genetic markers associated with disease severity and progression
Who Should Consider CLN3 Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Progressive vision loss beginning between ages 4-8 years
- Developmental regression or cognitive decline
- Seizures that are difficult to control with standard medications
- Motor impairment including ataxia and movement disorders
- Behavioral changes and personality alterations
- Family history of Batten disease or similar neurodegenerative conditions
- Unexplained neurological symptoms in childhood or adolescence
Benefits of CLN3 Genetic Testing
Undergoing CLN3 genetic testing provides numerous advantages for patients and families:
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Helps direct appropriate therapeutic approaches
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Research Participation: Opens opportunities for clinical trials and emerging therapies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity
Understanding Your Test Results
Your CLN3 genetic test results will be carefully interpreted by our genetic specialists:
- Positive Result: Indicates the presence of disease-causing mutations, confirming Batten disease diagnosis
- Negative Result: Suggests absence of known CLN3 mutations, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical implications requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CLN3 Gene Ceroid Lipofuscinosis Neuronal Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing CLN3 genetic testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and expectations
- Development of a detailed family pedigree chart
- Discussion of potential psychological impacts of test results
- Informed consent process explaining benefits and limitations
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing 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 of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. The CLN3 Gene Ceroid Lipofuscinosis Neuronal Type 3 NGS Genetic DNA Test provides the clarity and information needed to make informed healthcare decisions. Our team of genetic specialists is ready to guide you through every step of the process, from initial consultation to result interpretation and beyond.
Ready to schedule your genetic test? Contact us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
