BCAT2 Gene Branched-Chain Aminotransferase 2 Deficiency NGS Genetic DNA Test
Understanding BCAT2 Gene Deficiency
The BCAT2 Gene Branched-Chain Aminotransferase 2 Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BCAT2 gene, which plays a critical role in amino acid metabolism. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide detailed insights into metabolic health and identify potential risks for branched-chain aminotransferase 2 deficiency.
What Does This Test Measure?
This advanced genetic test specifically targets the BCAT2 gene, which encodes the mitochondrial branched-chain aminotransferase enzyme. The test detects:
- Point mutations and single nucleotide variants in the BCAT2 gene
- Insertions and deletions affecting gene function
- Copy number variations that may impact enzyme activity
- Regulatory region abnormalities influencing gene expression
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or developmental delays
- Metabolic abnormalities detected through routine blood tests
- Family history of branched-chain amino acid metabolism disorders
- Unexplained episodes of metabolic acidosis or ketosis
- Developmental regression in early childhood
- Abnormal urine organic acid profiles
Clinical Indications and Symptoms
Patients experiencing symptoms such as feeding difficulties in infancy, failure to thrive, lethargy, vomiting, or abnormal muscle tone should consider genetic testing. Early diagnosis is crucial for implementing appropriate dietary management and preventing long-term complications.
Benefits of BCAT2 Genetic Testing
- Early Intervention: Enables timely implementation of dietary modifications and treatment strategies
- Family Planning: Provides valuable information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of individualized management plans based on specific genetic mutations
- Prognostic Information: Helps predict disease progression and potential complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire BCAT2 gene
Understanding Your Test Results
Test results are carefully analyzed and interpreted by our team of certified genetic counselors and metabolic specialists. Positive results indicating BCAT2 gene mutations will include detailed explanations of:
- Specific genetic variants identified
- Potential impact on enzyme function
- Recommended management strategies
- Dietary modifications and supplementation requirements
- Follow-up testing recommendations
Negative Results Interpretation
Negative results indicate no pathogenic variants were detected in the BCAT2 gene. However, clinical correlation with symptoms and additional metabolic testing may be recommended to rule out other metabolic disorders.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | BCAT2 Gene Branched-Chain Aminotransferase 2 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 |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your BCAT2 genetic test, please ensure:
- Complete clinical history documentation is available
- Genetic counseling session is scheduled to create a detailed family pedigree
- All relevant medical records are compiled for comprehensive assessment
- Informed consent for genetic testing is obtained
Nationwide Accessibility
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Metabolic Health
Don’t let uncertainty about metabolic symptoms affect your quality of life. Early detection of BCAT2 gene deficiency can significantly improve treatment outcomes and prevent serious complications. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Schedule Your Test Today
Ready to take the next step in understanding your metabolic health? Contact our genetic counseling team to schedule your BCAT2 Gene Deficiency NGS Test. Call us at +1(267) 388-9828 or book your appointment online through our secure patient portal. Our dedicated staff will assist you with insurance verification, sample collection coordination, and answer any questions about the testing process.
Take advantage of our limited-time discount pricing and invest in your metabolic health today. Early genetic testing provides the foundation for effective management and improved quality of life.
