UGT1A1 Promoter Genotyping

Molecular

81350

In the promoter region of the UTG1A1 gene TA polymorphism is assessed by fragment analysis using capillary electrophoresis. The detected alleles include the common normal allele *1 (with 6 TA repeats) and the common abnormal allele *28 (7 repeats). Both the patient's genotype and the associated high, intermediate, or low toxicity risk from the quinolone-based alkaloids are reported. Polymorphisms can lead to toxicity from incomplete metabolism of the some cancer drugs used to treat colorectal, stomach, lung, brain, and breast cancers. This test is also used for diagnostic confirmation of Gilbert and Crigler-Najjar hyperbilirubinemia syndromes.

• Bone marrow aspirate: 1-2 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
• Peripheral blood: 5-10 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
• Fresh Tissue: Minimum of 250 mg tissue in RPMI transport media
• Formalin-Fixed Paraffin-Embedded Tissue: 1 H&E slide cut to 4 microns and 6-8 slides cut at 8 microns of BM clot or tissue fixed with 10% NBF fixative on non-charged slides. Please circle tumor for microdissection. Alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab.

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

5 - 7 days

Global