KCNC1 Gene Epilepsy Progressive Myoclonic Type 7 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Progressive Myoclonic Epilepsy
The KCNC1 Gene Epilepsy Progressive Myoclonic Type 7 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for progressive myoclonic epilepsy type 7. This advanced testing methodology provides crucial insights for patients and healthcare providers navigating complex neurological conditions.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the KCNC1 gene, which encodes the Kv3.1 potassium channel subunit critical for neuronal excitability regulation. The test utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine:
- Point mutations and single nucleotide variants in the KCNC1 gene
- Small insertions and deletions affecting gene function
- Genetic variations associated with progressive myoclonic epilepsy type 7
- Pathogenic variants that disrupt normal potassium channel function
Clinical Indications: Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Progressive myoclonic seizures that worsen over time
- Early-onset epilepsy with myoclonic features
- Neurological deterioration accompanying seizure activity
- Family history of progressive myoclonic epilepsy
- Unexplained neurological symptoms in childhood or adolescence
- Resistance to conventional anti-epileptic medications
Significant Benefits of Genetic Testing
Undergoing the KCNC1 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out progressive myoclonic epilepsy type 7
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize outcomes
Understanding Your Test Results
Genetic test results require careful interpretation by qualified medical professionals:
- Positive Result: Indicates the presence of a pathogenic KCNC1 mutation, confirming progressive myoclonic epilepsy type 7 diagnosis
- Negative Result: Suggests absence of detectable KCNC1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
- Carrier Status: May identify individuals carrying mutations without displaying symptoms
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across major United States metropolitan areas, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Pre-Test Requirements and Sample Collection
Prior to testing, patients should provide:
- Detailed clinical history documenting neurological symptoms
- Participation in genetic counseling session
- Family pedigree chart identifying affected relatives
- Sample collection via blood draw, extracted DNA, or blood spot on FTA card
Turnaround time for results typically ranges from 3 to 4 weeks from sample receipt.
Take Control of Your Neurological Health
Don’t let uncertainty about your neurological symptoms delay proper diagnosis and treatment. The KCNC1 Gene Epilepsy Progressive Myoclonic Type 7 NGS Genetic DNA Test provides the clarity needed for effective medical management. Our team of genetic specialists and neurologists is ready to support your diagnostic journey.
Schedule your genetic testing appointment today by calling +1(267) 388-9828 or booking online through our secure patient portal. Take the first step toward understanding your genetic profile and optimizing your neurological care.
