GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the GAMT gene, which plays a critical role in creatine biosynthesis. Early detection of this deficiency is essential for preventing severe neurological damage and improving patient outcomes through targeted therapeutic interventions.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the GAMT gene located on chromosome 19, which encodes the enzyme guanidinoacetate methyltransferase. The test detects:
- Point mutations, deletions, and insertions in the GAMT gene
- Genetic variants affecting enzyme function and creatine synthesis
- Inherited patterns of metabolic disorder transmission
- Risk factors for neurological complications and developmental delays
Through sophisticated NGS technology, our laboratory provides comprehensive coverage of all coding regions and critical regulatory elements of the GAMT gene, ensuring maximum detection sensitivity for clinically relevant variants.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or movement disorders
- Developmental regression or intellectual disability of unknown origin
- Autism spectrum features with metabolic abnormalities
- Family history of creatine deficiency syndromes
- Abnormal brain MRI findings suggestive of metabolic disorders
- Speech and language delays with behavioral abnormalities
- Infants and children with failure to thrive and neurological symptoms
Key Benefits of GAMT Gene Testing
Early genetic diagnosis through our NGS testing provides numerous advantages:
- Accurate Diagnosis: Precise identification of GAMT gene mutations eliminates diagnostic uncertainty
- Personalized Treatment: Enables targeted creatine supplementation and dietary modifications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely treatment to prevent irreversible neurological damage
- Cost-Effective: Reduces unnecessary medical testing and hospitalizations through accurate diagnosis
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the GAMT gene, confirming diagnosis of guanidinoacetate methyltransferase deficiency
- Negative Result: Suggests no disease-causing variants were detected in the GAMT gene, though clinical correlation is recommended
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed clinical implications and recommendations for follow-up care with metabolic specialists and genetic counselors.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic DNA Test | $500 USD | $700 USD |
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified genetic counselors and metabolic specialists ensures comprehensive care coordination regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper treatment. Our GAMT Gene Deficiency NGS Test provides the definitive answers you need for effective management of metabolic disorders. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Early detection saves lives and improves outcomes – take control of your genetic health today!
