GATM Gene Arginine-Glycine Amidinotransferase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The GATM Gene Arginine-Glycine Amidinotransferase Deficiency NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of rare metabolic conditions. This specialized genetic test focuses on identifying mutations in the GATM gene, which encodes the enzyme arginine-glycine amidinotransferase – a critical component in the creatine biosynthesis pathway. Early detection through this comprehensive screening can significantly impact treatment outcomes and quality of life for affected individuals.
What This Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the GATM gene to identify:
- Point mutations and single nucleotide variants affecting enzyme function
- Insertions and deletions that disrupt normal gene expression
- Copy number variations impacting gene dosage
- Regulatory region mutations affecting gene expression
- Compound heterozygous mutations in autosomal recessive inheritance patterns
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or developmental delays
- Muscle weakness, fatigue, or exercise intolerance without clear cause
- Family history of metabolic disorders or unexplained infant mortality
- Developmental regression in early childhood
- Intellectual disability of unknown origin
- Suspected creatine deficiency syndromes
- Abnormal metabolic screening results
Key Benefits of GATM Gene Testing
- Early Intervention: Enables timely implementation of dietary modifications and supplementation strategies
- Accurate Diagnosis: Provides definitive genetic confirmation for appropriate treatment planning
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the GATM gene, confirming diagnosis of arginine-glycine amidinotransferase deficiency
- Negative Result: Suggests no disease-causing mutations were detected in the analyzed regions
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
Test Pricing Information
| Test Feature | Details |
|---|---|
| Test Name | GATM Gene Arginine-Glycine Amidinotransferase Deficiency 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 |
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, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your metabolic health continue. Our specialized genetic testing provides the answers you need for informed healthcare decisions. With our comprehensive GATM gene analysis, you’ll gain valuable insights into your genetic makeup and potential metabolic concerns.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
