UGT1A1 Gene Crigler-Najjar Syndrome Type 1 NGS Genetic DNA Test

Comprehensive Genetic Analysis for Severe Liver Disorders

The UGT1A1 Gene Crigler-Najjar Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited liver conditions. This advanced testing method provides crucial insights into one of the most severe forms of unconjugated hyperbilirubinemia, enabling early intervention and personalized treatment strategies for affected individuals and families.

What Does This Test Measure?

This specialized genetic test employs Next-Generation Sequencing (NGS) technology to comprehensively analyze the UGT1A1 gene, which encodes the bilirubin uridine diphosphate glucuronosyltransferase enzyme. The test specifically detects:

• Pathogenic mutations in the UGT1A1 gene coding regions
• Complete gene sequencing for comprehensive variant detection
• Specific genetic alterations causing complete enzyme deficiency
• Inheritance patterns and carrier status identification
• Novel and known mutations associated with Crigler-Najjar syndrome type 1

Who Should Consider This Genetic Test?

This test is recommended for individuals presenting with specific clinical symptoms or family history patterns:

• Newborns with persistent, severe jaundice beyond the physiological period
• Individuals with unconjugated hyperbilirubinemia unresponsive to conventional treatments
• Patients with neurological symptoms including kernicterus or bilirubin encephalopathy
• Family members of individuals diagnosed with Crigler-Najjar syndrome
• Couples with family history planning pregnancy
• Individuals requiring differential diagnosis from other liver disorders

Clinical Benefits of Genetic Testing

Undergoing the UGT1A1 genetic test provides numerous clinical advantages:

• Accurate Diagnosis: Confirms Crigler-Najjar syndrome type 1 with high precision
• Early Intervention: Enables prompt initiation of phototherapy and treatment protocols
• Family Planning: Provides crucial information for genetic counseling and reproductive decisions
• Personalized Treatment: Guides appropriate management strategies based on genetic findings
• Prognostic Information: Helps predict disease progression and potential complications
• Carrier Detection: Identifies asymptomatic carriers within families

Understanding Your Test Results

Your genetic test results will provide comprehensive information about your UGT1A1 gene status:

• Positive Result: Indicates the presence of pathogenic mutations confirming Crigler-Najjar syndrome type 1 diagnosis
• Negative Result: Suggests absence of known pathogenic variants in the UGT1A1 gene
• Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
• Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring

All results are accompanied by detailed interpretation from our certified genetic counselors and medical geneticists to ensure proper understanding and appropriate next steps.

Test Pricing Information

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 state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.

Schedule Your Genetic Test Today

Take the first step toward understanding your genetic health and receiving personalized medical care. Our experienced genetic counselors and healthcare professionals are ready to assist you throughout the testing process. Contact us today to schedule your UGT1A1 Gene Crigler-Najjar Syndrome Type 1 NGS Genetic DNA Test and begin your journey toward accurate diagnosis and effective management.

Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic counseling team.