Gilbert disease / Irinotecan toxicity

Order Code: 323774

CPT Codes:  81350, G0452

Indication:  Clinical Diagnosis

Required Patient Information:  Personal and Family History of clinical symptoms and/or previous test results (if any)

Turn Around Time:  7-10 days

Specimen type:  Whole Blood

Methodology: An FDA approved assay (Hologic) is used to detect the TA6/TA7 polymorphism in the TATAA element of the promoter region of the UGT1A1 gene. The TA7 allele sequence variant is associated with reduced activity of the UGT1A1 gene and homozygosity (2 copies) for this allele is associated with Gilbert syndrome.  Reduced levels of the UGT1A1 protein may cause some patients to be at increased risk of toxicity when receiving drugs such as Irinotecan.  The frequency of the UGT1A1*28 (TA7) allele is 38.7% in Caucasian, 42.6% in African-American and 16% in Asian individuals.