GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Neurological Disorders
The GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics. This advanced genetic screening utilizes next-generation sequencing technology to detect mutations in the GUF1 gene, which are responsible for causing Early Infantile Epileptic Encephalopathy Type 40 – a severe neurological condition affecting infants during their critical developmental stages.
What This Test Measures and Detects
This specialized genetic test specifically analyzes the GUF1 gene for pathogenic variants that disrupt normal neurological development. The test identifies:
- Point mutations and single nucleotide variants in the GUF1 gene
- Insertions and deletions affecting gene function
- Copy number variations impacting neurological pathways
- Genetic markers associated with seizure susceptibility
- Variants affecting mitochondrial function and energy metabolism
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with:
- Early-onset seizures within the first months of life
- Developmental regression or stagnation
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
- Hypotonia or muscle weakness accompanying seizures
- Abnormal brain imaging findings
Clinical Benefits of Genetic Testing
Undergoing the GUF1 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of neurological symptoms
- Treatment Guidance: Informs targeted therapeutic approaches and medication selection
- Prognostic Information: Helps predict disease progression and outcomes
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables prompt initiation of appropriate therapies and support services
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic GUF1 gene mutation, confirming the diagnosis of Early Infantile Epileptic Encephalopathy Type 40
- Negative Result: Suggests that GUF1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires additional research and family studies
- Carrier Status: Determines if parents carry genetic variants that could affect future pregnancies
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 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 |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Family pedigree chart documenting affected relatives
- Neurological evaluation records
- Previous test results and imaging studies
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.
Take the Next Step Toward Answers
Don’t let uncertainty about your child’s neurological symptoms continue. Our specialized genetic testing provides the clarity needed to make informed medical decisions and develop effective treatment strategies. Our team of genetic specialists and neurologists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test and take the first step toward understanding your child’s neurological condition.
