ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test
Comprehensive Genetic Screening for Bile Acid Metabolism Disorders
The ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced screening utilizes Next Generation Sequencing (NGS) technology to identify specific mutations in the ABCD3 gene that disrupt normal bile acid synthesis pathways. Bile acid synthesis defects are serious congenital conditions that can lead to progressive liver damage, cholestasis, and severe metabolic complications if left undiagnosed.
What This Test Measures and Detects
This specialized genetic test specifically targets the ABCD3 gene, which plays a crucial role in the transport of bile acid precursors into peroxisomes for proper synthesis. The test detects:
- Pathogenic variants and mutations in the ABCD3 gene
- Specific nucleotide changes affecting bile acid transport
- Genetic markers associated with congenital bile acid synthesis defect type 5
- Inheritance patterns through comprehensive DNA analysis
- Risk assessment for family members through genetic counseling
Who Should Consider This Genetic Test
This test is recommended for individuals displaying symptoms or clinical indications of bile acid metabolism disorders:
- Infants and children with unexplained jaundice or liver dysfunction
- Patients with elevated liver enzymes without clear cause
- Individuals with family history of bile acid synthesis disorders
- Newborns showing signs of progressive cholestasis
- Patients with unexplained fat-soluble vitamin deficiencies
- Individuals with suspected peroxisomal disorders
- Families planning pregnancy with known genetic risk factors
Key Benefits of Early Genetic Detection
Early identification through genetic testing provides numerous advantages:
- Enables timely intervention and targeted treatment strategies
- Prevents progressive liver damage and complications
- Guides appropriate nutritional and therapeutic management
- Provides accurate genetic counseling for family planning
- Reduces diagnostic uncertainty and unnecessary testing
- Facilitates personalized medical care based on genetic profile
- Supports early implementation of bile acid replacement therapy
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and metabolic specialists:
- Positive Result: Indicates the presence of pathogenic ABCD3 gene mutations, confirming diagnosis of bile acid synthesis defect type 5
- Negative Result: Suggests no detectable mutations in the ABCD3 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include comprehensive genetic counseling to help you understand the implications and next steps for management and treatment.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | NGS Technology |
Pre-Test Requirements and Preparation
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of any family members affected by bile acid synthesis disorders
- Recent liver function test results if available
- Insurance information and physician referral
Nationwide Availability and Convenient Testing
We have testing facilities conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results with the highest standards of genetic testing quality.
Take Action Today for Better Health Outcomes
Don’t wait to get the answers you need for proper diagnosis and treatment. Early genetic detection can significantly improve quality of life and prevent serious complications associated with bile acid synthesis defects. Our team of genetic specialists and metabolic experts are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic counseling team. Take the first step toward understanding your genetic health and ensuring the best possible care for you and your family.
