CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Batten Disease
The CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for families affected by rare neurodegenerative disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the CLN8 gene, which plays a critical role in cellular function and neuronal health. Early detection through this comprehensive test can significantly impact treatment planning and family management strategies.
What Does This Test Measure?
This specialized genetic test specifically targets the CLN8 gene, analyzing its complete coding sequence and flanking regions to identify pathogenic variants associated with neuronal ceroid lipofuscinosis type 8. The test detects:
- Point mutations and small insertions/deletions in the CLN8 gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting protein function
- Known pathogenic variants linked to Batten disease progression
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of neuronal ceroid lipofuscinosis or those with family history of neurodegenerative conditions. Key indications include:
- Children experiencing progressive vision loss and retinal degeneration
- Individuals with developmental regression or cognitive decline
- Patients with seizures, ataxia, or movement disorders
- Family members of individuals diagnosed with Batten disease
- Couples with family history planning pregnancy
- Individuals with unexplained neurological symptoms in childhood
Clinical Benefits of Genetic Testing
Undergoing the CLN8 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out CLN8-related disorders with high precision
- Early Intervention: Enables timely management of symptoms and complications
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Treatment Guidance: Informs appropriate therapeutic approaches
- Genetic Counseling: Supports informed decision-making for at-risk relatives
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Possible outcomes include:
- Positive Result: Identifies a pathogenic mutation in the CLN8 gene, confirming diagnosis of neuronal ceroid lipofuscinosis type 8
- Negative Result: No disease-causing mutations detected, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one copy of a mutated gene who may pass the condition to offspring
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our network of certified collection centers ensures accessible genetic testing for families nationwide.
Take Action Today
Don’t wait to get the answers you need for your family’s health. Our experienced genetic counselors are available to discuss your testing options and provide comprehensive support throughout the process. Contact us today to schedule your CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your test appointment or to speak with our genetic counseling team.
