BAAT Gene Hypercholanemia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bile Acid Metabolism Disorders
The BAAT Gene Hypercholanemia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with bile acid metabolism disorders. Hypercholanemia, characterized by elevated bile acid levels in the bloodstream, can lead to significant health complications including liver dysfunction, pruritus, and metabolic disturbances. This advanced genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the BAAT gene, which plays a crucial role in bile acid conjugation and metabolism.
What This Test Measures and Detects
This specialized genetic test specifically targets mutations in the BAAT (bile acid-CoA: amino acid N-acyltransferase) gene, which encodes an enzyme essential for bile acid conjugation. The test identifies:
- Pathogenic variants in the BAAT gene associated with hypercholanemia
- Single nucleotide polymorphisms (SNPs) affecting bile acid metabolism
- Deletions, insertions, and other structural variations in the BAAT gene
- Genetic markers that influence bile acid synthesis and conjugation pathways
- Inheritance patterns of bile acid metabolism disorders
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Unexplained persistent itching (pruritus) without apparent cause
- Elevated liver enzymes or abnormal liver function tests
- Family history of bile acid metabolism disorders or hypercholanemia
- Unexplained gastrointestinal symptoms including nausea and abdominal discomfort
- Children with failure to thrive or developmental delays associated with metabolic issues
- Patients with suspected metabolic liver diseases
- Individuals with consanguineous parents or family history of genetic disorders
Clinical Benefits of BAAT Gene Testing
Undergoing the BAAT Gene Hypercholanemia NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of hypercholanemia
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management before severe complications develop
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic assessment
- Cost-Effective: Priced at only $500 USD, making advanced genetic testing accessible
Understanding Your Test Results
Your BAAT Gene Hypercholanemia NGS Genetic DNA Test results will provide detailed information about your genetic profile:
- Positive Result: Indicates the presence of pathogenic mutations in the BAAT gene, confirming genetic hypercholanemia. This result enables targeted treatment strategies and family screening.
- Negative Result: Suggests no detectable mutations in the BAAT gene, though clinical correlation with symptoms is essential for comprehensive assessment.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring further evaluation and possibly family studies.
- Carrier Status: Determines if you carry one copy of a mutated gene, which may be important for family planning decisions.
All results are accompanied by detailed interpretation from our genetic specialists, and genetic counseling is recommended to fully understand the implications of your findings.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | BAAT Gene Hypercholanemia NGS Genetic DNA Test | – |
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or Blood on FTA Card |
| Testing Method | Advanced genetic technology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Clinical History: Provide comprehensive medical history of the patient undergoing testing
- Genetic Counseling: Schedule a genetic counseling session to create a detailed family pedigree chart
- Documentation: Complete all necessary consent forms and medical questionnaires
- Sample Collection: Follow specific instructions based on your chosen sample type
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing 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. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. The BAAT Gene Hypercholanemia NGS Genetic DNA Test provides comprehensive insights into bile acid metabolism disorders, enabling informed medical decisions and personalized treatment approaches.
Call us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic specialists about whether this test is right for you.
Our dedicated team is available to answer your questions, discuss insurance coverage options, and guide you through the testing process. Take control of your genetic health with advanced diagnostic testing from General Genetics Corporation.
