UGT1A1 28 Genotyping Irinotecan Test Cost & Procedure

Methodology

Fluorescently-tagged analyte specific reagent primers are used in the Polymerase Chain Reaction (PCR) amplification of the UGT1A1 promoter as stated . Capillary electrophoresis is used to separate PCR products.

Requirements for Specimens

For collection instructions, contact the Molecular Diagnostics Laboratory

Request for Molecular Diagnostics

Type of Specimen: Whole blood

Lavender-topped container or tube (EDTA)

Sample Volume: Completed tube

Minimum Volume of the Specimen: 1-2 mL

Instructions for blood collection: Invert numerous times to mix the blood. Blood that has clots is unacceptable.

Normative Values

There will be an explanatory report offered.

Temperature of Specimen Transport Ambient, Refrigerated, or Frozen NO

Additional Data Intended Only For BJH Laboratory Use

Indicator Stability

Blood is stable for up to 168 hours in the refrigerator and 0 to 4 hours at room temperature.

Advice for Laboratory Processing:

examination carried out at BJH-Molecular Diagnostics.

Gene Analysis of UGT1A1

Hyperbilirubinemia is caused by mutations in the UGT1A1 gene, which reduce the amount of the functioning enzyme UDP-glucuronosyltransferase, which is necessary for bilirubin metabolism. The genetic variant(s) that cause the functional deficit of hepatic UGT1A1 are what decide how severe it is; hence, the phenotypic spectrum is diverse. The rare autosomal recessive disorder known as Crigler-Najjar syndrome is characterized by intermediate-severe hyperbilirubinemia, jaundice, and kernicterus risk. It is caused by a severe functional deficiency of the hepatic enzyme UGT1A1. People with Gilbert syndrome may be asymptomatic , fluctuating hyperbilirubinemia and intermittently jaundice. It is an ordinary inherited ailment induced by a a tiny decline in UGT1A1 action.

The topoisomerase I inhibitor irinotecan and the antiretroviral protease inhibitor atazanavir are two medications that are metabolized by the UGT1A1 enzyme. Drug poisoning is more likely to occur in UGT1A1 genotypes that cause an enzyme shortage.