KCTD7 Gene Progressive Myoclonus Epilepsy Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Progressive Myoclonus Epilepsy
The KCTD7 Gene Progressive Myoclonus Epilepsy Type 3 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for this rare inherited disorder. Progressive myoclonus epilepsy type 3 is a severe neurological condition characterized by progressive muscle jerks, seizures, and cognitive deterioration that typically begins in childhood. This advanced genetic test provides crucial diagnostic clarity for patients and families affected by this challenging condition.
What This Test Measures and Detects
This specialized genetic analysis specifically targets the KCTD7 gene using next-generation sequencing (NGS) technology to identify pathogenic variants associated with progressive myoclonus epilepsy type 3. The test examines:
- Complete coding regions of the KCTD7 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations affecting gene function
- Specific nucleotide changes linked to disease manifestation
- Inheritance patterns and familial risk assessment
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Progressive myoclonic seizures beginning in childhood
- Unexplained muscle jerks and involuntary movements
- Progressive cognitive decline or developmental regression
- Family history of similar neurological symptoms
- Ataxia or coordination difficulties
- Visual impairment or retinal degeneration
- Previous negative results from standard epilepsy testing
Clinical Benefits of KCTD7 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out progressive myoclonus epilepsy type 3 with high precision
- Treatment Guidance: Informs targeted therapeutic approaches and medication selection
- Genetic Counseling: Enables informed family planning and risk assessment
- Prognostic Information: Provides insights into disease progression and expected outcomes
- Research Contribution: Advances understanding of rare neurological disorders
- Early Intervention: Facilitates timely management strategies for optimal outcomes
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates the presence of pathogenic KCTD7 gene mutations confirming progressive myoclonus epilepsy type 3 diagnosis
- Negative Result: Suggests absence of detectable mutations in the KCTD7 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in 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 Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms delay your path to accurate diagnosis and effective treatment. Our specialized KCTD7 genetic testing provides the clarity needed to make informed healthcare decisions and develop personalized management strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your comprehensive genetic evaluation and take the first step toward understanding your neurological health.
