Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by UGT1A1; especially irinotecan but also atazanavir, nilotinib, pazopanib, and belinostat Identifying individuals with Gilbert syndrome due to the presence of homozygous UGT1A1*6 (c.211G>A, based on NM_000463.2) allele, TA7, homozygous TA8, or compound heterozygous *6, TA7 or TA8 Identifying individuals who are carriers of Gilbert syndrome due to the presence of heterozygous TA7 or TA8 This test is not useful for assessment of Crigler-Najjar syndrome.
Specimen Type
Blood
Container
Lavender Top Tube
Collection Instructions
Submit only 1 of the following specimens: Specimen Type: Whole blood Container/Tube: Adults: Lavender top (EDTA) Pediatrics: Purple microtube Specimen Adults: 3 mL( 0.45 mL min) Pediatrics: 1 mL Collection Instructions: 1. Invert several times to mix blood. 2. Send specimen in original tube. Do not aliquot. Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days
Specimen Type: Saliva Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection. Container/Tube: Saliva Swab Collection Kit Volume: One swab Collection Instructions: Collect and send specimen per kit instructions. Specimen Stability Information: Ambient 30 days
Transport Instructions
Room Temperature
Specimen Stability
Whole Blood 9 Days Room Temperature 30 Days Refrigerated Saliva 30 Days Room Temperature Extracted DNA Frozen/Room Temperature/Refrigerated
Methodology
Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis
