UGT1A1 Gene Hyperbilirubinemia Familial Transient Neonatal NGS Genetic DNA Test
Understanding UGT1A1 Gene Hyperbilirubinemia
UGT1A1 Gene Hyperbilirubinemia, also known as familial transient neonatal hyperbilirubinemia, is a genetic condition affecting newborns’ ability to process bilirubin effectively. This inherited disorder results from mutations in the UGT1A1 gene, which encodes the enzyme responsible for bilirubin conjugation in the liver. When this enzyme functions improperly, bilirubin accumulates in the bloodstream, leading to severe jaundice that can potentially cause permanent neurological damage if left untreated.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically analyzes the UGT1A1 gene to identify pathogenic variants that cause familial transient neonatal hyperbilirubinemia. The test examines:
- Complete sequencing of the UGT1A1 gene coding regions
- Detection of known pathogenic mutations including UGT1A1*28 polymorphism
- Identification of novel variants affecting enzyme function
- Assessment of gene duplication or deletion events
- Comprehensive analysis of promoter regions affecting gene expression
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for:
- Newborns with persistent jaundice beyond the first week of life
- Infants with severe hyperbilirubinemia requiring phototherapy
- Babies with family history of neonatal jaundice or Gilbert’s syndrome
- Cases where bilirubin levels exceed expected ranges for age
- Infants showing signs of acute bilirubin encephalopathy
- Families with previous children affected by severe neonatal jaundice
- Cases where standard jaundice treatments prove ineffective
Benefits of UGT1A1 Genetic Testing
Early genetic diagnosis provides numerous advantages for patient care and family planning:
- Prevention of Kernicterus: Identify at-risk infants before irreversible brain damage occurs
- Personalized Treatment: Guide appropriate phototherapy and medication protocols
- Family Planning: Provide accurate genetic counseling for future pregnancies
- Early Intervention: Implement preventive measures for subsequent siblings
- Comprehensive Care: Coordinate with hepatology and genetics specialists
- Peace of Mind: Reduce parental anxiety through definitive diagnosis
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic UGT1A1 variants confirming diagnosis of familial transient neonatal hyperbilirubinemia
- Negative Result: No pathogenic variants detected, suggesting other causes for hyperbilirubinemia
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive interpretation by our board-certified geneticists and specific recommendations for clinical management based on genetic findings.
Test Pricing and Information
| Test Feature | Details |
|---|---|
| Test Name | UGT1A1 Gene Hyperbilirubinemia Familial Transient Neonatal 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
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 of certified genetic testing facilities ensures accessible, reliable testing for families nationwide.
Take Action Today
Don’t wait for symptoms to escalate. Early genetic testing can prevent serious complications and provide life-saving information for your newborn’s health. Our genetic counselors are available to discuss your concerns and guide you through the testing process.
Call us today at +1(267) 388-9828 to schedule your UGT1A1 Genetic Test or to speak with our genetic specialists. Protect your child’s future with definitive genetic answers.
Our comprehensive pre-test process includes genetic counseling and clinical history assessment to ensure you receive the most accurate and meaningful results for your family’s health journey.
