MAT1A Gene Methionine Adenosyltransferase Deficiency Autosomal Recessive NGS Genetic DNA Test
Understanding MAT1A Gene Deficiency
The MAT1A Gene Methionine Adenosyltransferase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying autosomal recessive genetic mutations that disrupt normal methionine metabolism. Methionine adenosyltransferase deficiency is a rare inherited metabolic disorder caused by mutations in the MAT1A gene, which encodes the enzyme responsible for converting methionine to S-adenosylmethionine (SAMe). This critical biochemical process plays a fundamental role in numerous cellular functions, including methylation reactions, neurotransmitter synthesis, and myelin formation.
What This Test Detects
Our advanced NGS-based genetic test specifically identifies pathogenic variants in the MAT1A gene that lead to methionine adenosyltransferase deficiency. The test comprehensively analyzes:
- Point mutations and small insertions/deletions in the MAT1A gene
- Autosomal recessive inheritance patterns
- Genetic variants affecting enzyme function and stability
- Mutations impacting SAMe synthesis and cellular methylation processes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with specific clinical indications:
Clinical Symptoms and Indications
- Unexplained neurological deterioration in infancy or childhood
- Developmental delays and cognitive impairment
- Abnormal muscle tone (hypotonia or hypertonia)
- Seizures or epilepsy of unknown origin
- White matter abnormalities on brain imaging
- Elevated blood methionine levels
- Family history of metabolic disorders or consanguinity
- Unexplained liver dysfunction in conjunction with neurological symptoms
Benefits of MAT1A Genetic Testing
Early detection through genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause enables targeted treatment strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Early Intervention: Allows for prompt initiation of dietary management and therapeutic approaches
- Prognostic Information: Helps predict disease progression and potential complications
- Personalized Treatment: Guides development of individualized management plans based on specific genetic variants
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your MAT1A gene status:
Possible Result Interpretations
- Positive Result: Identification of two pathogenic variants confirms diagnosis of methionine adenosyltransferase deficiency
- Carrier Status: Detection of one pathogenic variant indicates carrier status with no clinical symptoms
- Negative Result: No pathogenic variants detected, significantly reducing likelihood of this specific disorder
- Variant of Uncertain Significance: Identification of genetic changes with unclear clinical implications requiring further evaluation
Clinical Follow-up
All positive results are accompanied by detailed genetic counseling to help you understand the implications and next steps. Our team provides comprehensive guidance on dietary management, monitoring protocols, and family testing recommendations.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | MAT1A Gene Methionine Adenosyltransferase Deficiency Autosomal Recessive 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 |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Genetic Health
Early detection of MAT1A gene mutations can significantly impact treatment outcomes and quality of life. Our comprehensive genetic testing provides the clarity needed for informed medical decisions and personalized care planning.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
