SERPINI1 Gene Encephalopathy Familial with Neuroserpin Inclusion Bodies NGS Genetic DNA Test
Understanding SERPINI1 Gene Encephalopathy
SERPINI1 Gene Encephalopathy, also known as Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB), is a rare inherited neurological disorder characterized by progressive cognitive decline, dementia, and movement abnormalities. This condition results from mutations in the SERPINI1 gene, which encodes neuroserpin – a protein that plays a crucial role in protecting brain cells from damage. When this gene malfunctions, abnormal neuroserpin proteins accumulate in neurons, forming inclusion bodies that disrupt normal brain function and lead to progressive neurological deterioration.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically identifies mutations in the SERPINI1 gene that cause familial encephalopathy with neuroserpin inclusion bodies. The test examines:
- Point mutations in the SERPINI1 gene coding regions
- Small insertions and deletions affecting neuroserpin production
- Genetic variations that lead to protein misfolding and aggregation
- Inheritance patterns through comprehensive genetic analysis
Clinical Significance of Test Results
The detection of SERPINI1 mutations provides critical information about disease progression, inheritance risk, and potential therapeutic interventions. Early identification allows for proactive management strategies and informed family planning decisions.
Who Should Consider This Test
This genetic test is recommended for individuals experiencing or with family history of:
- Progressive cognitive decline beginning in adulthood
- Early-onset dementia symptoms
- Myoclonus (sudden, brief muscle twitches)
- Epileptic seizures that are difficult to control
- Family history of similar neurological conditions
- Unexplained progressive neurological deterioration
- Movement disorders with cognitive impairment
Genetic Counseling Recommendations
Before testing, we strongly recommend genetic counseling to discuss family history, create a detailed pedigree chart, and understand the implications of test results for both the patient and their family members.
Benefits of SERPINI1 Genetic Testing
- Early Diagnosis: Identify the condition before severe symptoms develop
- Accurate Prognosis: Understand disease progression and expected timeline
- Family Planning: Make informed decisions about genetic inheritance risks
- Personalized Care: Develop targeted treatment and management strategies
- Clinical Trial Eligibility: Qualify for specialized research and emerging therapies
- Peace of Mind: Resolve diagnostic uncertainty and reduce anxiety
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the SERPINI1 gene. This confirms the diagnosis of familial encephalopathy with neuroserpin inclusion bodies and provides valuable information for:
- Disease management and symptom monitoring
- Family member testing recommendations
- Long-term care planning
- Participation in specialized neurological care programs
Negative Result Interpretation
A negative result suggests that no known pathogenic mutations were detected in the SERPINI1 gene. However, this does not completely rule out the possibility of other genetic or non-genetic causes for neurological symptoms. Further evaluation may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, the test may identify genetic changes whose clinical significance is currently unknown. Our genetic counseling team will provide guidance on monitoring and potential follow-up testing.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SERPINI1 Gene Encephalopathy Familial with Neuroserpin Inclusion Bodies 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 |
| Specialty | Neurology & Genetics |
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 counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about your neurological symptoms or family history cause unnecessary stress. Our SERPINI1 Gene Encephalopathy NGS Genetic DNA Test provides the clarity you need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access cutting-edge diagnostic technology without financial burden.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing options and schedule your appointment. Call us at +1(267) 388-9828 or use our online booking system to secure your testing slot. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Book your SERPINI1 Gene Encephalopathy NGS Genetic DNA Test today and take the first step toward understanding your neurological health with confidence and clarity.
