GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 NGS Genetic DNA Test
Comprehensive Introduction to GRIN2D Genetic Testing
The GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the GRIN2D gene, which plays a critical role in brain development and function. Early infantile epileptic encephalopathy type 46 is a severe neurological disorder that typically manifests in the first months of life, characterized by treatment-resistant seizures, developmental regression, and significant neurological impairment.
Understanding the genetic basis of this condition is paramount for accurate diagnosis, appropriate treatment selection, and comprehensive family planning. The GRIN2D gene encodes a subunit of the NMDA receptor, which is essential for normal synaptic transmission and neuronal plasticity. Mutations in this gene disrupt normal brain function, leading to the devastating symptoms associated with this condition.
What the GRIN2D Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the GRIN2D gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants in the GRIN2D gene
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure and function
- Pathogenic variants associated with epileptic encephalopathy type 46
- Genetic changes affecting NMDA receptor subunit composition
The NGS methodology provides high-resolution analysis of the entire coding region and critical regulatory elements of the GRIN2D gene, ensuring comprehensive mutation detection with exceptional accuracy.
Who Should Consider GRIN2D Genetic Testing
This test is specifically recommended for infants and children presenting with the following clinical features:
Primary Clinical Indications:
- Infants with early-onset seizures (typically before 3 months of age)
- Children exhibiting developmental regression or stagnation
- Patients with treatment-resistant epilepsy
- Infants showing abnormal neurological examination findings
- Cases with family history of similar neurological disorders
- Patients with unexplained encephalopathy or brain dysfunction
Key Symptoms Warranting Testing:
- Intractable seizures unresponsive to conventional antiepileptic medications
- Developmental delay or loss of previously acquired skills
- Abnormal muscle tone (hypotonia or hypertonia)
- Movement disorders or abnormal involuntary movements
- Visual impairment or abnormal eye movements
- Feeding difficulties and failure to thrive
Significant Benefits of GRIN2D Genetic Testing
Undergoing GRIN2D genetic testing provides numerous advantages for patients and families:
Diagnostic Clarity and Precision
Obtaining a definitive genetic diagnosis eliminates diagnostic uncertainty and provides clear answers about the underlying cause of neurological symptoms. This precision enables targeted treatment approaches and eliminates unnecessary diagnostic procedures.
Personalized Treatment Planning
Genetic results can inform treatment decisions, including the selection of specific antiepileptic medications that may be more effective for GRIN2D-related disorders. Some patients may benefit from NMDA receptor modulators or other targeted therapies.
Family Planning and Genetic Counseling
Identifying the specific genetic mutation allows for accurate recurrence risk assessment and informed family planning decisions. Genetic counseling can provide comprehensive guidance about inheritance patterns and reproductive options.
Prognostic Information
Understanding the specific GRIN2D mutation can provide valuable information about disease progression and long-term outcomes, helping families and healthcare providers prepare for future needs.
Understanding Your GRIN2D Test Results
Interpreting genetic test results requires professional medical expertise, but here is general guidance about potential outcomes:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the GRIN2D gene. This confirms the diagnosis of early infantile epileptic encephalopathy type 46 and provides specific information about the genetic variant responsible for the condition.
Negative Result
A negative result means no pathogenic mutations were detected in the GRIN2D gene. However, this does not completely rule out a genetic cause, as mutations in other genes or regions not covered by the test could be responsible.
Variant of Uncertain Significance (VUS)
Sometimes, the test may identify genetic changes whose clinical significance is unknown. These variants require additional evaluation and may need follow-up testing or family studies for proper interpretation.
Test Pricing and Booking Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Details:
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Neurology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Neurological Disorders
Nationwide Availability and Booking
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities are equipped with the latest genetic testing technology and staffed by experienced genetic specialists.
Pre-Test Requirements
Before scheduling your GRIN2D genetic test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session completed
- Pedigree chart of family members affected with similar conditions
- Relevant medical records and previous test results
Take Action Today
Don’t let diagnostic uncertainty delay proper care for your child. Early genetic testing can provide crucial information for treatment planning and family decision-making. Our team of genetic specialists and neurologists are ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GRIN2D genetic test consultation. Our genetic counselors will help you understand the testing process, answer your questions, and guide you through the necessary preparations.
Take the first step toward definitive diagnosis and personalized care. Book your GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 NGS Genetic DNA Test today and gain the clarity you need for your child’s neurological health.
