DPD5var
The LAMP Human DPD5var KIT is an in vitro diagnostic test intended for the qualitative detection of five different non-functional or less functional DPYD alleles (*2A, *13, c.2846A>T, c.1129-5923C>G, *6) by Loop-mediated isothermal amplification (LAMP) on EDTA whole blood and extracted DNA. This assay is dedicated to professional use in diagnostic laboratory. The device is not for self-testing.
Four decreased function DPYD variants are associated with DPD deficiency. They are of primary relevance due to their population frequency and established impact on enzyme function and toxicity risk:
- c.190511G>A (rs3918290, also known as DPYD*2A),
- c.1679T>G (rs55886062, DPYD *13)
- c.2846A>T (rs67376798, p.D949V)
- HapB3.
Among these variants, c.190511G>A and c.1679T>G have the most significant effect on DPD activity, while c.2846A>T and HapB3 lead to a moderate reduction in DPD activity [1].
Some guidelines also suggest the detection of *6 (c.2194G>A or rs1801160) [2], as this decreased function variant is relatively common in Asian populations (8-9% carrier frequency).
[1]https://files.cpicpgx.org/data/guideline/publication/fluoropyrimidines/2017/29152729.pdf
[2]https://www.pharmgkb.org/guidelineAnnotation/PA166312801
Format: 24 determinations
Storage: At -20°C. 8 freeze and thaw max.
Possible automation: Yes
Analysis software : Yes
Turn around time: Around 1 hour
https://www.annalsofoncology.org/article/S0923-7534(21)01277-1/fulltext
https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2019.00139/full
https://www.sciencedirect.com/science/article/pii/S2059702923000029
https://libstore.ugent.be/fulltxt/RUG01/003/146/807/RUG01-003146807_2023_0001_AC.pdf
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