UGT1A1 Gene Crigler-Najjar Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Liver Disorders
The UGT1A1 Gene Crigler-Najjar Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited metabolic disorders. This advanced genetic test specifically targets mutations in the UGT1A1 gene, which encodes the enzyme uridine diphosphate glucuronosyltransferase 1A1. This enzyme plays a critical role in bilirubin metabolism, and its deficiency leads to Crigler-Najjar Syndrome Type 2, a serious condition characterized by persistent unconjugated hyperbilirubinemia.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test provides detailed analysis of the entire UGT1A1 gene to identify:
- Pathogenic mutations causing Crigler-Najjar Syndrome Type 2
- Single nucleotide variants (SNVs) and small insertions/deletions
- Genetic variations affecting bilirubin conjugation efficiency
- Inheritance patterns for family planning purposes
- Specific mutations that respond to phenobarbital treatment
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Persistent neonatal jaundice beyond the typical newborn period
- Elevated unconjugated bilirubin levels without liver damage
- Family history of Crigler-Najjar Syndrome or Gilbert’s syndrome
- Unexplained hyperbilirubinemia in children or adults
- Poor response to conventional jaundice treatments
- Planning for pregnancy with family history of metabolic disorders
Key Benefits of Genetic Testing
Undergoing the UGT1A1 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Crigler-Najjar Syndrome Type 2
- Personalized Treatment: Guides appropriate therapy selection including phenobarbital responsiveness
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables proactive management to prevent complications
- Peace of Mind: Eliminates diagnostic uncertainty and unnecessary testing
Understanding Your Test Results
Our comprehensive genetic report includes:
- Detailed analysis of UGT1A1 gene variations
- Interpretation of mutation significance and clinical relevance
- Inheritance pattern explanation
- Treatment implications based on specific mutations
- Recommendations for follow-up care and monitoring
- Genetic counseling guidance for family members
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | UGT1A1 Gene Crigler-Najjar Syndrome Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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 laboratories ensure consistent, high-quality genetic testing results nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about rare genetic disorders affect your quality of life. Our UGT1A1 genetic testing provides definitive answers and clear treatment pathways. With our discounted price of only $500 USD, comprehensive genetic analysis is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and effective management of Crigler-Najjar Syndrome Type 2.
