AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital NGS Genetic DNA Test
Understanding Bile Acid Synthesis Defect Type 2
Bile Acid Synthesis Defect Type 2 is a rare inherited metabolic disorder caused by mutations in the AKR1D1 gene, which encodes the enzyme 5β-reductase. This enzyme plays a critical role in the final steps of bile acid synthesis, converting 7α-hydroxy-4-cholesten-3-one to primary bile acids. When this enzyme is deficient, abnormal bile acids accumulate, leading to progressive liver damage, cholestasis, and potential liver failure if left untreated.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically analyzes the AKR1D1 gene to identify pathogenic variants responsible for Bile Acid Synthesis Defect Type 2. The test examines:
- Complete sequencing of the AKR1D1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of compound heterozygous or homozygous mutations
- Assessment of variant pathogenicity and clinical significance
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Persistent neonatal cholestasis or jaundice
- Unexplained liver dysfunction in infancy or childhood
- Failure to thrive with hepatic involvement
- Family history of bile acid synthesis disorders
- Siblings of affected individuals for carrier screening
- Patients with suspected metabolic liver disease
Clinical Benefits of Genetic Testing
Early diagnosis through genetic testing provides numerous advantages:
- Enables targeted treatment with primary bile acid replacement therapy
- Prevents progression to end-stage liver disease
- Guides appropriate nutritional management
- Provides accurate genetic counseling for family planning
- Avoids unnecessary invasive procedures like liver biopsy
- Facilitates monitoring for potential complications
Understanding Your Test Results
Your genetic test report will include comprehensive interpretation:
- Positive Result: Identifies pathogenic mutations confirming diagnosis, enabling immediate treatment initiation
- Negative Result: No mutations detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are reviewed by board-certified geneticists and genetic counselors who provide personalized recommendations based on your specific findings.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process explaining benefits and risks
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures accessible genetic testing services with consistent quality standards nationwide.
Take Action for Better Health
Don’t wait to get answers about potential genetic metabolic disorders. Early diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Book your AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital NGS Genetic DNA Test today by calling our genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward definitive diagnosis and personalized treatment planning.
