AMT Gene Glycine Encephalopathy NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The AMT Gene Glycine Encephalopathy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with glycine encephalopathy. This rare but serious neurological condition affects brain development and function, making early diagnosis crucial for effective management and treatment planning.
What is Glycine Encephalopathy?
Glycine encephalopathy, also known as nonketotic hyperglycinemia, is an inherited metabolic disorder characterized by abnormally high levels of the amino acid glycine in the brain and body fluids. This condition primarily affects the central nervous system, leading to progressive neurological deterioration if left undiagnosed and untreated.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology specifically targets the AMT gene, which encodes the enzyme aminomethyltransferase. This enzyme plays a critical role in the glycine cleavage system, and mutations in the AMT gene disrupt normal glycine metabolism.
- Comprehensive analysis of the entire AMT gene coding region
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with glycine encephalopathy
- Assessment of novel variants of uncertain significance
Who Should Consider This Test
This genetic test is recommended for individuals presenting with specific neurological symptoms or family history patterns:
Clinical Indications and Symptoms
- Unexplained neonatal seizures or infantile spasms
- Developmental delays in motor skills and cognitive function
- Hypotonia (reduced muscle tone) in infants
- Breathing difficulties and apnea episodes
- Family history of glycine encephalopathy or unexplained infant mortality
- Abnormal neurological findings without clear diagnosis
- Siblings of affected individuals for carrier screening
Benefits of AMT Gene Testing
Early genetic diagnosis through AMT gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out glycine encephalopathy with high precision
- Personalized Treatment: Enables targeted therapeutic interventions and medication management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive care and therapies
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your AMT gene test results:
Possible Result Interpretations
- Positive Result: Identifies pathogenic mutations confirming glycine encephalopathy diagnosis
- Negative Result: No disease-causing mutations detected in the AMT gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene without symptoms
Post-Test Guidance
All positive results include detailed genetic counseling to discuss:
- Treatment options and management strategies
- Dietary modifications and medication considerations
- Family testing recommendations
- Long-term monitoring and follow-up care
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | AMT Gene Glycine Encephalopathy NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before scheduling your AMT gene test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing procedures
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston and Texas facilities
- Multiple East Coast and West Coast locations
Take Action Today
Don’t wait to get the answers you need for proper neurological diagnosis and management. Our team of genetic specialists and neurologists are ready to assist you with comprehensive testing and personalized care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your AMT Gene Glycine Encephalopathy NGS Genetic DNA Test. Our genetic counselors are available to answer your questions and guide you through the testing process.
Early genetic diagnosis can make a significant difference in managing neurological conditions and planning for the future. Take the first step toward clarity and peace of mind by booking your test today.
