AMACR Gene Bile Acid Synthesis Defect Type 4 Congenital NGS Genetic DNA Test
Comprehensive Introduction to AMACR Gene Testing
The AMACR Gene Bile Acid Synthesis Defect Type 4 Congenital NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening utilizes Next-Generation Sequencing technology to identify mutations in the AMACR (Alpha-Methylacyl-CoA Racemase) gene, which plays a critical role in bile acid synthesis pathways. Bile acid synthesis defects are rare congenital metabolic disorders that can lead to severe liver complications, growth retardation, and neurological issues if left undiagnosed.
Early detection through this comprehensive genetic analysis is paramount for implementing effective treatment strategies and preventing long-term complications. The test’s importance extends beyond individual diagnosis, providing valuable information for family planning and genetic counseling for at-risk relatives.
What This Test Measures and Detects
This sophisticated genetic test specifically targets and analyzes the AMACR gene using state-of-the-art NGS technology to identify:
- Pathogenic mutations in the AMACR gene associated with bile acid synthesis defect type 4
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Genetic variations affecting peroxisomal beta-oxidation pathways
- Mutations impacting bile acid intermediate metabolism
- Inheritance patterns of congenital metabolic disorders
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Infants and children with unexplained cholestatic liver disease
- Patients showing signs of progressive neurological deterioration
- Individuals with elevated liver enzymes without clear etiology
- Family history of bile acid synthesis disorders or metabolic conditions
- Children experiencing growth failure or developmental delays
- Patients with abnormal bile acid profiles in metabolic screening
- Siblings of diagnosed individuals for carrier status determination
Significant Benefits of AMACR Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of bile acid synthesis defect type 4
- Early Intervention: Enables prompt treatment initiation to prevent complications
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your AMACR gene test results with clarity and precision:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the AMACR gene associated with bile acid synthesis defect type 4. This confirmation enables:
- Implementation of specific bile acid replacement therapy
- Dietary modifications and nutritional support
- Regular monitoring of liver function and neurological status
- Family member screening recommendations
Negative Result Interpretation
A negative result suggests no detectable mutations in the AMACR gene, though clinical correlation with symptoms remains essential. Further metabolic testing may be recommended if symptoms persist.
Variant of Uncertain Significance (VUS)
Some genetic variations may require additional family studies or functional analysis to determine clinical significance. Our genetic counselors provide ongoing support for result interpretation.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take Action for Your Genetic Health
Don’t let uncertainty about metabolic symptoms delay proper diagnosis and treatment. Our AMACR Gene Bile Acid Synthesis Defect Type 4 Congenital NGS Genetic DNA Test provides the clarity and answers you need for effective medical management.
Book your comprehensive genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment through our secure online portal. Take the first step toward understanding your genetic health and ensuring optimal care for metabolic conditions.
Our experienced genetic specialists are available to discuss your specific concerns, explain the testing process in detail, and provide personalized guidance throughout your diagnostic journey. Early detection through advanced genetic testing can make a significant difference in managing complex metabolic disorders effectively.
