ACACA Gene Acetyl-CoA Carboxylase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Health
The ACACA Gene Acetyl-CoA Carboxylase Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic disorders. This sophisticated genetic analysis utilizes next-generation sequencing technology to identify mutations in the ACACA gene, which encodes the enzyme acetyl-CoA carboxylase. This enzyme plays a critical role in fatty acid synthesis and energy metabolism, making its proper function essential for overall metabolic health.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the ACACA gene to detect:
- Pathogenic variants and mutations in the ACACA gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Insertions, deletions, and copy number variations
- Genetic markers associated with acetyl-CoA carboxylase deficiency
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained developmental delays in infancy or childhood
- Recurrent episodes of hypoglycemia (low blood sugar)
- Failure to thrive or poor weight gain in infants
- Family history of metabolic disorders
- Unexplained neurological symptoms
- Suspected inherited metabolic conditions
Key Benefits of ACACA Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt identification of acetyl-CoA carboxylase deficiency
- Personalized Treatment: Guides targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Proactive Management: Allows for early intervention and monitoring
- Peace of Mind: Offers clarity for families with metabolic concerns
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of ACACA gene mutations associated with acetyl-CoA carboxylase deficiency, requiring specialized metabolic management
- Negative Result: Suggests no detected mutations in the ACACA gene, though clinical correlation with symptoms is essential
- 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 without showing symptoms
Test Pricing Information
| Test Component | Price (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 cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessible, reliable testing for patients nationwide.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our ACACA Gene Acetyl-CoA Carboxylase Deficiency NGS Genetic DNA Test provides the clarity and answers you need. With a simple blood sample and our advanced NGS technology, you can gain valuable insights into your genetic metabolic health.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through the testing process and help you understand your results with compassion and clinical excellence.
