Neuronal Ceroid Lipofuscinosis Gene Panel
Comprehensive Genetic Testing for Batten Disease
The Neuronal Ceroid Lipofuscinosis Gene Panel represents a cutting-edge diagnostic tool for identifying Batten disease, a group of rare inherited neurodegenerative disorders that primarily affect children and young adults. This comprehensive genetic panel utilizes advanced Next-Generation Sequencing (NGS) technology to analyze multiple genes simultaneously, providing clinicians with precise molecular information crucial for accurate diagnosis and personalized patient management.
What This Test Measures and Detects
This specialized gene panel examines multiple genetic loci associated with neuronal ceroid lipofuscinosis, including:
- CLN1 (PPT1 gene) mutations causing infantile NCL
- CLN2 (TPP1 gene) variants responsible for late infantile NCL
- CLN3 gene abnormalities linked to juvenile NCL
- CLN5, CLN6, CLN7, and CLN8 gene variations
- Other rare genetic mutations associated with Batten disease spectrum
The test provides comprehensive coverage of known pathogenic variants, including point mutations, small insertions/deletions, and copy number variations that contribute to the development of these devastating neurological conditions.
Who Should Consider This Genetic Test
This panel is recommended for individuals presenting with symptoms suggestive of neuronal ceroid lipofuscinosis, including:
- Children experiencing progressive vision loss or blindness
- Patients with unexplained seizures or epilepsy
- Individuals showing cognitive decline and developmental regression
- Those with motor impairment, ataxia, or movement disorders
- Patients with speech difficulties and language regression
- Individuals with behavioral changes and personality alterations
- Family members of diagnosed Batten disease patients
- Couples with family history planning pregnancy
Key Benefits of Genetic Testing
Undergoing the Neuronal Ceroid Lipofuscinosis Gene Panel offers numerous advantages:
- Definitive Diagnosis: Provides molecular confirmation of Batten disease subtypes
- Early Intervention: Enables timely management and supportive care strategies
- Family Planning: Facilitates informed reproductive decisions for at-risk families
- Treatment Guidance: Helps direct appropriate therapeutic approaches
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Clinical Trial Eligibility: May qualify patients for emerging treatment studies
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates pathogenic mutations associated with neuronal ceroid lipofuscinosis, confirming diagnosis and guiding management
- Negative Result: Suggests absence of tested mutations but doesn’t completely rule out other genetic causes
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Reveals if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed explanations and recommendations from our certified genetic counselors.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | Neuronal Ceroid Lipofuscinosis Gene Panel |
| Discount Price | $900 USD |
| Regular Price | $1200 USD |
| Turnaround Time | 4-6 weeks |
| Sample Type | Amniotic fluid / Chorionic villi / Peripheral blood |
| Test Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Instructions
The Neuronal Ceroid Lipofuscinosis Gene Panel requires a Doctor’s prescription for testing. Please note that prescription requirements do not apply for surgical cases, pregnancy-related testing, or individuals planning international travel. Our team will guide you through the necessary preparation steps based on your specific situation.
Nationwide Testing Availability
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 other cities. Our network of certified collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay your path to diagnosis. Our Neuronal Ceroid Lipofuscinosis Gene Panel provides the comprehensive genetic information needed for informed medical decisions. With our discounted price of $900 USD and professional genetic counseling support, you can access world-class diagnostic testing with confidence.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with advanced diagnostic testing from General Genetics Corporation.
