DNM1 Gene Early Infantile Epileptic Encephalopathy Type 31 NGS Genetic DNA Test
Understanding DNM1 Gene Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy Type 31 (EIEE31) represents a severe neurological condition characterized by treatment-resistant seizures that typically manifest within the first months of life. This devastating disorder results from mutations in the DNM1 gene, which plays a critical role in synaptic vesicle recycling and neurotransmitter release. The DNM1 Gene NGS Genetic DNA Test provides comprehensive analysis of this gene using advanced next-generation sequencing technology, offering families and healthcare providers crucial diagnostic information for managing this challenging condition.
What Does This Test Measure?
Our specialized genetic test specifically targets the DNM1 gene to identify pathogenic variants associated with Early Infantile Epileptic Encephalopathy Type 31. The test utilizes cutting-edge NGS technology to sequence the entire DNM1 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the DNM1 gene
- Novel mutations not previously documented
Who Should Consider This Test?
This genetic test is particularly recommended for infants and children presenting with the following symptoms:
- Early-onset seizures within the first 6 months of life
- Treatment-resistant epilepsy that doesn’t respond to standard anti-seizure medications
- Developmental regression or stagnation following seizure onset
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained infantile spasms or myoclonic seizures
Clinical Benefits of Genetic Testing
Undergoing the DNM1 Gene NGS Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out EIEE31, enabling targeted treatment approaches
- Treatment Guidance: Informs medication selection and management strategies
- Prognostic Information: Helps understand disease progression and expected outcomes
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely implementation of supportive therapies
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of a pathogenic DNM1 mutation, confirming EIEE31 diagnosis
- Negative Result: Suggests that DNM1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing Information
| Test Component | Price (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, and San Jose. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Appropriate sample collection (blood, extracted DNA, or blood spot on FTA card)
Take Control of Your Genetic Health Today
Don’t let uncertainty about your child’s neurological symptoms continue. The DNM1 Gene Early Infantile Epileptic Encephalopathy Type 31 NGS Genetic DNA Test provides the clarity needed to make informed medical decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you can move forward with confidence in your treatment journey.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing the best possible outcomes for your family.
