SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infant Epilepsy
The SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic test specifically targets mutations in the SIK1 (salt-inducible kinase 1) gene, which plays a critical role in brain development and neuronal function. Early infantile epileptic encephalopathy type 30 is a severe neurological condition characterized by treatment-resistant seizures that typically begin within the first months of life, often leading to significant developmental delays and neurological impairment.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the entire SIK1 gene to identify pathogenic variants responsible for early infantile epileptic encephalopathy type 30. The test specifically detects:
- Point mutations and single nucleotide variants in the SIK1 gene
- Small insertions and deletions affecting gene function
- Copy number variations impacting SIK1 expression
- Novel mutations associated with epileptic encephalopathy
- Inherited and de novo genetic variants
The SIK1 gene encodes a serine/threonine kinase that regulates various cellular processes, including neuronal development, synaptic plasticity, and energy metabolism. Mutations in this gene disrupt normal brain development and function, leading to the severe epilepsy syndrome characteristic of this condition.
Who Should Consider This Test
This specialized genetic test is recommended for infants and children presenting with the following symptoms and clinical features:
- Seizure onset within the first 3-6 months of life
- Treatment-resistant epilepsy that doesn’t respond to standard anti-epileptic medications
- Developmental regression or stagnation following seizure onset
- Abnormal EEG patterns including hypsarrhythmia or burst-suppression
- Hypotonia (reduced muscle tone) or hypertonia (increased muscle tone)
- Microcephaly or abnormal head growth patterns
- Family history of similar neurological conditions
- Unexplained developmental delays in infancy
Clinical Benefits of SIK1 Genetic Testing
Undergoing SIK1 genetic testing provides numerous clinical advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of epileptic encephalopathy, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on the specific genetic mutation
- Prognostic Information: Provides insight into disease progression and expected clinical outcomes
- Genetic Counseling: Supports family planning decisions and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of appropriate developmental and therapeutic interventions
- Research Participation: May qualify patients for clinical trials and emerging treatment options
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your test results and understand their implications:
- Positive Result: Identification of a pathogenic SIK1 mutation confirms the diagnosis of early infantile epileptic encephalopathy type 30 and guides specific management strategies
- Negative Result: Absence of detectable SIK1 mutations suggests other genetic or non-genetic causes for the clinical presentation, requiring further evaluation
- Variant of Uncertain Significance: Some genetic changes may have unclear clinical implications, requiring additional family studies or research correlation
- Carrier Status: Identifies asymptomatic family members who may carry the mutation and have reproductive implications
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your SIK1 genetic test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar neurological conditions
- Recent neurological evaluation and EEG results
- Developmental assessment records
Nationwide Testing Availability
We proudly offer SIK1 genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Answers
If your infant is experiencing unexplained seizures, developmental delays, or neurological symptoms, the SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 NGS Genetic DNA Test could provide the answers you need. Our team of board-certified neurologists and genetic specialists is ready to help you navigate this challenging diagnostic journey.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Early diagnosis can make a significant difference in treatment outcomes and quality of life for affected children.
Don’t let diagnostic uncertainty delay appropriate care. Contact our genetic specialists now to discuss whether SIK1 genetic testing is right for your child and take the first step toward personalized neurological care.
