Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene
Use
This test is designed for individuals who exhibit symptoms associated with Crigler-Najjar syndrome or Gilbert syndrome, both of which are linked to mutations in the UGT1A1 gene. It is intended for patients with symptom onset at birth or infancy, as well as reproductive partners of individuals diagnosed with a pathogenic variant in the UGT1A1 gene. The test aids in confirming a clinical diagnosis, enabling appropriate management and family planning decisions.
Special Instructions
Patients are advised that the test should be ordered by a qualified healthcare provider. Additionally, institutional pricing requires users to sign in. STAT testing options are available, though additional fees and certain limitations apply based on quick turnaround time requests.
Limitations
The UGT1A1 gene test primarily detects mutations linked to Crigler-Najjar syndrome and Gilbert syndrome, and is most effective for known genetic markers associated with these conditions. However, it may not identify all genetic anomalies, and false negatives can occur if mutations are outside the tested regions. Additionally, results interpretation requires complete clinical data and may be inconclusive in some cases.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided