AMACR Gene Alpha-methylacyl CoA Racemase Deficiency NGS Genetic DNA Test
Understanding AMACR Gene Deficiency Testing
The AMACR Gene Alpha-methylacyl CoA Racemase Deficiency NGS Genetic DNA Test represents a significant advancement in metabolic disorder diagnostics. This specialized genetic examination focuses on identifying mutations in the AMACR gene, which plays a critical role in bile acid synthesis and peroxisomal beta-oxidation pathways. When this gene functions improperly, it can lead to serious health complications affecting multiple bodily systems.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically targets:
- Comprehensive analysis of the AMACR gene sequence
- Detection of point mutations, deletions, and insertions
- Identification of genetic variants affecting alpha-methylacyl CoA racemase enzyme function
- Assessment of potential impact on bile acid metabolism
- Evaluation of peroxisomal function-related genetic markers
Who Should Consider This Genetic Test?
This specialized diagnostic test is recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures or developmental delays
- Progressive vision problems or retinal abnormalities
- Liver dysfunction without clear cause
- Family history of metabolic disorders or peroxisomal diseases
- Abnormal bile acid profiles in previous testing
- Developmental regression in childhood
- Suspected inherited metabolic conditions
Clinical Benefits of Early Detection
Early identification of AMACR gene mutations provides numerous advantages:
- Enables proactive management of metabolic imbalances
- Facilitates personalized treatment strategies
- Allows for early intervention to prevent complications
- Provides crucial information for family planning decisions
- Helps guide appropriate dietary and therapeutic interventions
- Reduces diagnostic uncertainty and unnecessary testing
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of AMACR gene mutations associated with alpha-methylacyl CoA racemase deficiency. This finding enables targeted management and monitoring strategies.
- Negative Result: Suggests no detectable mutations in the AMACR gene, though clinical correlation with symptoms remains essential.
- Variant of Uncertain Significance: Some genetic variations may require additional family studies or functional analysis for complete interpretation.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| 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 facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about metabolic health concerns affect your quality of life. Our AMACR Gene Alpha-methylacyl CoA Racemase Deficiency NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, accessing advanced genetic testing has never been more convenient.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process, ensuring you receive the comprehensive care and support you deserve.
