ACAT1 Gene Methylacetoacetic Aciduria NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ACAT1 Gene Methylacetoacetic Aciduria 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 ACAT1 gene, which plays a critical role in ketone body metabolism and energy production pathways within the body.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the ACAT1 gene, which encodes the mitochondrial enzyme acetyl-CoA acetyltransferase 1. The test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire coding region and adjacent intronic regions of the ACAT1 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with methylacetoacetic aciduria
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Unexplained metabolic acidosis episodes
- Developmental delays or regression in childhood
- Neurological symptoms including seizures or movement disorders
- Family history of methylacetoacetic aciduria or similar metabolic conditions
- Abnormal organic acid profiles in urine analysis
- Ketotic hypoglycemia without clear cause
- Consanguineous parentage with metabolic concerns
Clinical Benefits of Testing
Early and accurate diagnosis through this NGS genetic test provides numerous clinical advantages:
- Precise Diagnosis: Confirms or rules out methylacetoacetic aciduria with high accuracy
- Personalized Treatment: Enables targeted dietary and medical interventions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention to prevent metabolic crises
- Comprehensive Care: Supports multidisciplinary approach involving metabolic specialists
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of pathogenic ACAT1 gene mutations, confirming methylacetoacetic aciduria diagnosis
- Negative Result: Suggests no detectable mutations in the ACAT1 gene, though other metabolic conditions may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Book Your Test Today
Take the first step toward understanding your genetic health. Our experienced team is ready to assist you with scheduling, sample collection, and result interpretation. Contact us now to schedule your ACAT1 Gene Methylacetoacetic Aciduria NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Our genetic counselors are available to discuss your testing needs, answer questions about the procedure, and provide guidance on pre-test requirements including the necessary clinical history documentation and family pedigree chart preparation.
