AMT Gene Glycine Encephalopathy NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Metabolic Disorders
The AMT Gene Glycine Encephalopathy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the AMT gene that cause glycine encephalopathy. This rare inherited metabolic disorder affects the central nervous system and requires specialized genetic analysis for accurate diagnosis and management.
What is Glycine Encephalopathy?
Glycine encephalopathy, also known as nonketotic hyperglycinemia, is a severe autosomal recessive metabolic disorder characterized by elevated glycine levels in the brain and body fluids. The AMT gene provides instructions for producing the enzyme aminomethyltransferase, which is essential for breaking down glycine in the mitochondria. When mutations occur in this gene, glycine accumulates to toxic levels, leading to progressive neurological damage.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the AMT gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions in the genetic sequence
- Copy number variations affecting gene function
- Pathogenic variants known to cause glycine encephalopathy
- Novel mutations with potential clinical significance
The test examines the entire coding region of the AMT gene, including all exons and intron-exon boundaries, ensuring maximum detection sensitivity for both known and novel mutations.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained neonatal seizures or infantile spasms
- Developmental delay and intellectual disability
- Hypotonia (reduced muscle tone) in infancy
- Apnea episodes and breathing difficulties
- Abnormal brain imaging findings
- Family history of glycine encephalopathy
- Elevated glycine levels in cerebrospinal fluid
- Unexplained neurological deterioration
Special Populations
The test is particularly important for:
- Newborns with suspected metabolic disorders
- Children with unexplained neurological symptoms
- Families with previous affected siblings
- Couples planning pregnancy with family history
- Individuals from populations with higher carrier frequencies
Benefits of Taking the AMT Gene Test
Early Diagnosis and Intervention
Early detection through genetic testing enables:
- Prompt initiation of appropriate medical management
- Implementation of dietary modifications and glycine restriction
- Targeted pharmacological interventions
- Improved neurological outcomes through early treatment
- Better seizure control and management
Family Planning and Genetic Counseling
The test provides crucial information for:
- Accurate genetic counseling for family members
- Prenatal diagnosis in subsequent pregnancies
- Carrier testing for at-risk relatives
- Reproductive decision-making
- Understanding inheritance patterns
Personalized Medical Care
Genetic results guide:
- Individualized treatment plans
- Monitoring for disease complications
- Multidisciplinary care coordination
- Long-term management strategies
- Quality of life improvements
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Identification of known pathogenic mutations confirms glycine encephalopathy diagnosis and enables targeted management
- Negative Result: No mutations detected reduces likelihood of AMT-related glycine encephalopathy but doesn’t exclude other causes
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact require further evaluation and family studies
- Carrier Status: Identification of one mutated copy indicates carrier status with implications for family planning
Clinical Correlation
Results should always be interpreted in the context of:
- Clinical symptoms and presentation
- Biochemical testing results
- Family history and pedigree analysis
- Neuroimaging findings
- Response to therapeutic interventions
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | AMT Gene Glycine Encephalopathy 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 | Neurological Genetics, Metabolic Disorders |
Pre-Test Requirements
Before scheduling your AMT Gene Glycine Encephalopathy NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss implications and create family pedigree
- Understanding of potential results and their impact on family members
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston and Texas facilities
- Phoenix and Southwest centers
- All other major US cities and regions
Take Control of Your Neurological Health
Early genetic diagnosis of glycine encephalopathy can significantly impact treatment outcomes and quality of life. Our comprehensive AMT gene testing provides the clarity needed for effective medical management and family planning decisions.
Ready to schedule your genetic test? Contact our genetic specialists today to discuss your testing needs and schedule an appointment at one of our nationwide locations.
Call or WhatsApp: +1(267) 388-9828
Our experienced genetic counselors are available to answer your questions, explain the testing process, and help you understand how genetic testing can benefit you and your family. Don’t wait to get the answers you need for better neurological health management.
