ABAT Gene GABA-Transaminase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ABAT Gene GABA-Transaminase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced testing methodology provides crucial insights into GABA metabolism disorders, enabling early intervention and personalized treatment approaches for affected individuals and families.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the ABAT gene, which encodes the enzyme 4-aminobutyrate aminotransferase responsible for GABA metabolism. Through Next-Generation Sequencing (NGS) technology, the test identifies:
- Pathogenic variants in the ABAT gene sequence
- Mutations affecting GABA-transaminase enzyme function
- Genetic markers associated with GABA metabolism disruption
- Inheritance patterns of GABA-transaminase deficiency
- Specific genetic variants impacting neurological development
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Recurrent seizures or epilepsy of unknown origin
- Abnormal movement patterns or coordination difficulties
- Family history of GABA-transaminase deficiency or related metabolic disorders
- Neurological symptoms without clear diagnosis
- Suspected inherited metabolic conditions affecting brain function
Clinical Benefits of Early Detection
Early identification of GABA-transaminase deficiency through this test provides numerous clinical advantages:
- Enables targeted treatment strategies for symptom management
- Facilitates early intervention to optimize developmental outcomes
- Provides accurate genetic counseling for family planning
- Helps prevent diagnostic odyssey and unnecessary testing
- Supports personalized medical management approaches
- Offers clarity for affected individuals and their families
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic variants in the ABAT gene, confirming GABA-transaminase deficiency diagnosis
- Negative Result: Suggests no detectable mutations in the ABAT gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
Pre-Test Requirements
Prior to testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Discussion of potential implications and outcomes
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic metabolic disorders affect your quality of life. Our ABAT Gene GABA-Transaminase Deficiency NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can access world-class diagnostic capabilities.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
