Criggler-Najjar Syndrome Genetic Test
Understanding Criggler-Najjar Syndrome
Criggler-Najjar Syndrome is a rare, inherited metabolic disorder characterized by the body’s inability to properly process bilirubin, a yellow pigment produced during the normal breakdown of red blood cells. This condition results from mutations in the UGT1A1 gene, which provides instructions for making the enzyme uridine diphosphate glucuronosyltransferase 1A1. This enzyme is essential for converting toxic unconjugated bilirubin into a water-soluble form that can be eliminated from the body through bile and urine.
What Our Test Measures
Our comprehensive genetic test specifically targets the UGT1A1 gene using advanced Sanger sequencing technology to identify:
- Point mutations affecting enzyme function
- Deletions or insertions in the gene sequence
- Specific genetic variants associated with Type I and Type II Criggler-Najjar Syndrome
- Inheritance patterns for family planning purposes
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Persistent jaundice in newborns that doesn’t resolve within the first few weeks
- Severe unconjugated hyperbilirubinemia without evidence of hemolysis
- Family history of Criggler-Najjar Syndrome or Gilbert’s syndrome
- Unexplained neurological symptoms in infants with jaundice
- Planning pregnancy with known family history of bilirubin metabolism disorders
Key Symptoms Indicating Testing
- Yellow discoloration of skin and eyes (jaundice)
- Dark yellow or brown urine
- Pale-colored stools
- In severe cases: kernicterus (brain damage from bilirubin toxicity)
- Developmental delays in affected children
Benefits of Genetic Testing
Early and accurate diagnosis through genetic testing provides numerous advantages:
- Precise Diagnosis: Confirms Criggler-Najjar Syndrome type and severity
- Treatment Guidance: Helps determine appropriate phototherapy protocols
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Information: Helps predict disease progression and complications
- Therapeutic Decisions: Guides consideration of liver transplantation
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
Possible Results Include:
- Positive for Type I: Complete enzyme deficiency requiring aggressive management
- Positive for Type II: Partial enzyme deficiency with better prognosis
- Carrier Status: One mutated copy with normal bilirubin levels
- Negative Result: No UGT1A1 mutations detected
All results are accompanied by detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | Criggler-Najjar Syndrome Genetic Test |
| Regular Price | $900 USD |
| Discount Price | $676 USD |
| Turnaround Time | 7-8 Days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | Sanger Sequencing |
Pre-Test Instructions
This test requires a doctor’s prescription for most cases. Prescription requirements do not apply for surgical preparation, pregnancy-related testing, or international travel documentation purposes.
Nationwide Testing Availability
We have convenient testing locations across 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 network of certified collection centers ensures accessible testing no matter where you’re located.
Take Control of Your Genetic Health
Don’t let uncertainty about genetic conditions affect your family’s future. Our Criggler-Najjar Syndrome genetic test provides the clarity you need for informed healthcare decisions. With our discounted price of $676 USD and rapid 7-8 day turnaround, you can get the answers you deserve quickly and affordably.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Our genetic counselors are available to answer your questions and guide you through the testing process.
