MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neuronal Ceroid Lipofuscinosis Type 7
The MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with CLN7 disease. This advanced genetic analysis utilizes next-generation sequencing technology to examine the MFSD8 gene, which plays a critical role in lysosomal function and neuronal health. Neuronal ceroid lipofuscinosis type 7 is an autosomal recessive disorder characterized by the accumulation of lipopigments in neurons, leading to progressive neurological deterioration.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the MFSD8 gene to identify pathogenic variants responsible for CLN7 disease. The test examines:
- Complete coding regions of the MFSD8 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and large deletions/duplications
- Point mutations, insertions, and deletions affecting protein function
- Known and novel variants associated with neuronal ceroid lipofuscinosis
The test provides comprehensive coverage of all clinically relevant regions, ensuring high detection rates for this rare neurodegenerative condition.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of neuronal ceroid lipofuscinosis, including:
- Children and adolescents experiencing progressive vision loss
- Individuals with unexplained seizures or epilepsy
- Patients showing cognitive decline and developmental regression
- Those with motor impairment, ataxia, or movement disorders
- Individuals with speech difficulties and language regression
- Patients with behavioral changes and psychiatric symptoms
- Family members of individuals diagnosed with CLN7 disease
- Couples with family history of Batten disease considering family planning
Clinical Benefits of Early Genetic Diagnosis
Undergoing the MFSD8 genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CLN7 disease with high accuracy
- Early Intervention: Enables timely management strategies and supportive care
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Information: Helps anticipate disease progression and complications
- Clinical Trial Eligibility: Opens opportunities for emerging treatments
- Family Screening: Identifies at-risk relatives for preventive monitoring
- Psychological Relief: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations in both MFSD8 gene copies, confirming CLN7 diagnosis
- Carrier Status: Detects a single mutation, indicating carrier status without disease manifestation
- Negative Result: No mutations found, significantly reducing likelihood of CLN7 disease
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All results include detailed clinical correlations and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 NGS Genetic DNA Test | $700 |
| Discounted Price | $500 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 testing facilities ensures accessible, high-quality diagnostic services nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our MFSD8 genetic test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can make a significant difference in managing neuronal ceroid lipofuscinosis. Take the first step toward definitive answers and personalized care by contacting our team today.
