gb GENETIC Gilbert
Detection method:
melting analysis
This in vitro diagnostic kit is intended for detection of polymorphism TA (allele 7TA) in gene UGT1A1 in human genomic DNA. Detection is based on polymerase chain reaction (PCR) with analysis of melting curves using fluorescently labelled probe.
Clinical implications of the CE IVD kit
The gb GENETIC Gilbert diagnostic kit is used to detect changes in the number of TA repetitions in the promoter of the UGT1A1 gene. This gene encodes the enzyme UDPglucuronosyltransferase, which is responsible for the conjugation phase of biotransformation of bilirubin.
The unmutated gene variant contains 6 TA repeats in the promoter, the mutated variant most frequently 7 TA repeats. Detection of this mutation is useful before starting treatment with medications whose limited biotransformation can result in development of toxic effects. Genotyping enables timely dose reduction or selection of alternative therapy.
Parameters of the real-time PCR diagnostic kit
- ready-to-use assay
- sample concentration 2.5-100 ng/µl
- positive and negative controls included
- FAM channel detection
Validated for:
ABI 7500/7500 Fast (ABI)
AriaMx (Agilent Technologies)
CFX96/96Touch (Bio-Rad)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
MIC (BMS)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)
Stratagene Mx3000P/Mx30005P (Agilent Technologies)