FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the FGF12 gene that are responsible for Early Infantile Epileptic Encephalopathy Type 47 (EIEE47), a rare but severe neurological condition affecting infants during their critical developmental stages.
What This Test Measures and Detects
This specialized genetic test specifically targets the FGF12 (Fibroblast Growth Factor 12) gene, which plays a crucial role in brain development and neuronal function. The test detects:
- Pathogenic variants in the FGF12 gene associated with EIEE47
- Missense mutations affecting protein function
- De novo mutations occurring spontaneously
- Inherited genetic variations from parents
- Specific nucleotide changes impacting neurological development
Who Should Consider This Genetic Test
This test is particularly 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
- Hypotonia (reduced muscle tone) or hypertonia
- Feeding difficulties and failure to thrive
- Microcephaly or other neurological abnormalities
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
Clinical Benefits of FGF12 Genetic Testing
Accurate Diagnosis and Treatment Planning
Receiving a definitive genetic diagnosis through this test provides numerous clinical advantages:
- Precise Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment approaches
- Personalized Care: Guides neurologists in developing individualized treatment plans
- Medication Selection: Helps identify the most effective anti-epileptic medications
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
Advanced NGS Technology Benefits
Our Next-Generation Sequencing approach ensures:
- High accuracy with >99% detection rate for known mutations
- Comprehensive coverage of the entire FGF12 gene
- Ability to detect both common and rare genetic variants
- Rapid turnaround time of 3-4 weeks
- Minimal sample requirements (blood or extracted DNA)
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully analyzed and presented with comprehensive interpretation:
- Positive Result: Indicates the presence of a pathogenic FGF12 mutation associated with EIEE47. This confirms the genetic basis of the neurological symptoms and enables targeted management strategies.
- Negative Result: Suggests that no known pathogenic mutations were detected in the FGF12 gene. However, this does not completely rule out the possibility of other genetic causes or rare variants not covered by current testing.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unknown clinical implications. These require further evaluation and may be reclassified as more research becomes available.
Post-Test Support and Counseling
All positive results include:
- Detailed genetic counseling session with our certified genetic counselors
- Explanation of inheritance patterns and recurrence risks
- Referral to appropriate neurological specialists
- Coordination with your healthcare team for comprehensive care planning
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with a neurologist or genetic specialist
- Informed consent process explaining benefits and limitations
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, San Francisco, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Action Today for Better Neurological Health
Don’t let uncertainty about your child’s neurological symptoms delay proper diagnosis and treatment. Our FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test provides the clarity needed to make informed healthcare decisions and develop effective treatment strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our team of genetic specialists and neurological experts is ready to guide you through the testing process, answer your questions, and provide the comprehensive support your family deserves. Early genetic diagnosis can make a significant difference in managing neurological conditions and improving quality of life.
