BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency NGS Genetic DNA Test
Understanding BCAT1 Gene Deficiency
The BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening examines the BCAT1 gene, which encodes the enzyme branched-chain aminotransferase 1—a critical component in the metabolism of branched-chain amino acids (BCAAs) including leucine, isoleucine, and valine. When this enzyme functions improperly due to genetic mutations, it can lead to severe neurological complications and developmental challenges.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets:
- Complete sequencing of the BCAT1 gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) affecting enzyme function
- Identification of insertions, deletions, and copy number variations
- Assessment of genetic markers associated with branched-chain amino acid metabolism disorders
- Evaluation of potential compound heterozygosity or homozygous mutations
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or early childhood
- Developmental delays or regression in motor skills
- Seizures or epilepsy of unknown origin
- Abnormal muscle tone or movement disorders
- Family history of metabolic disorders or consanguineous parents
- Elevated branched-chain amino acids in blood or urine tests
- Unexplained intellectual disability or learning difficulties
Clinical Importance and Benefits
Early detection through BCAT1 gene testing provides numerous advantages:
- Enables precise diagnosis and eliminates diagnostic uncertainty
- Facilitates early intervention and targeted treatment strategies
- Provides crucial information for family planning and genetic counseling
- Helps prevent unnecessary medical procedures and testing
- Allows for personalized dietary management and therapeutic approaches
- Supports comprehensive care planning for affected individuals
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic BCAT1 gene mutations. Our genetic counselors will provide detailed interpretation and management recommendations.
- Negative Result: Suggests no disease-causing mutations were detected in the BCAT1 gene, though other genetic factors may still be considered.
- Variant of Uncertain Significance (VUS): Some genetic changes may require additional family studies or research correlation.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency NGS Genetic DNA Test – Discount Price | $500 |
| BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer 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, reliable results regardless of your location.
Take Action Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our BCAT1 gene testing provides the clarity needed for informed medical decisions. With results typically available within 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more accessible.
Ready to take control of your genetic health? Book your BCAT1 Gene Deficiency Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Early detection can make all the difference in managing metabolic health effectively.
