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Chinese; 0.175 in Japanese.

3RG Alfele frequency: 0.26 - 0.37 in Caucasian, Hispanic,
African-Atnerican; 0. 51 tn
Chlnese; 0.427 in Japanese.
3RC Allele frequency: 0.15 - 0.33 in Caucasian, Hispanic,
Afrlcan Arnerican; a.3A tn
Chinese,' 0.399 in Japanese.
CLINCAL SENSITIVITY: Estinated at 31 percent for the DPYD
mutations anaTyzed.
METHaDOLOGY: DPYD genotypes are determined by multiplex PCR,
slngle nucfeotide extension
(SNE), and fraqment analysis. TYMS qenotypes are determined by
PCR, resLrict:on djqesL/
and fragment anaTysis,
ANALYTICAL SENSITIVITY AND SPECIFICITY: 99 percent.
LIMITATIOAIS; Only the tarqeted TYMS and DPYD tnutations wifl be
detected by this pane1.
Diaqnostlc errors can accur due to rare sec/uence -rariattons. 5 I-rJ
d;aug ffleaabo Lisirt,
efficacy and risk for to>:ic7ty may be affected by qenetic and
non-qenetic factors that
are not evaLuated by thrs test. Genotypingr does not repJace the
need for therapeutic druq
monitoring or clinlcal observation.
Test developed and characteristics determined bv ARTJP
Labora tor res.
5ee Coinpirance Staternent C: www.aruplab.com,/CS
TYMS 3'UTR GENOTYPE , DeUlns Abnarmat

!i TYI'45 3' -UTR lnieft-.retation: The patient is hete rozyqous for tne 6
base-parr Ce,ietion variant rs7543C in the 3'-untransfateC reqrcn
(UTR) of tie tnynLdyLate synthase 1T"{MS) grene. This ins/Del
qenatype p-recrcts intermediate TYMS exl)ress ron. While coit_rci,er-sy
exjsts jn Lhe iiterature, overall Lhts finding predtcts inproved
survival of patjents with coforectal adenocarcinona receir,,irqr
5-ffuorouracit (5-FU) chemotherapy, but a_lso the potenttal for
:ncreased 5-IU toxrctty. The TYMS ertzyme js the prlmary druq
target of 5 [-Lt, Leadtng to lnhibition of DNA synthesjs and ce]l
death.
RecommendatTon: Alternative chemotherapeutic aqents, reducecl 5-FU
Coses, therapeutLc druq nonitorinq and/or increased patient
surrrer-Z Tance for adl.erse druq react jons rs indlcated.

, TYMS S'TSER GENOTYPE 3RGi3RC Abnormal

TYMS 5'-TSER Interpretation: The patient has three copies (3R) af i

a 28bp tandem repeat in the 5'promoter enhancer region (5,-TSER)

crt both alleTes of the thyntdyJate synthase (TYMS) grene. In
addit-ion, a sinqJe nucleotide polyinorphism (G>C) is present an one
3F a-l-1 e-le (3RG/3RC) . Taken tcqether, this 3RG/3RC qenotype is
assocjated with increased TYI4S e.xpresszon. While controversy
exists jn the literature/ overalL this findinq precltcts dtmin1 shed
survi'tal of patients with colcrecl-al adenocarcjnoma recervingr
5 fluorouracif (5-FU) chenotherapy. The TYMS enzyrne rs the prlmary
drug target of 5-FU, TeaCing to rnlibrtion of DAIA syrthesrs and
celf death.
Recommendation: This resu-lt Coes not replace the reed for
therapeut.ic druq or cf inical mcnitcrinq. 5-Fu druq nLetabolism,
eff icacl a:.7 r'Lsk for Lo\ ic''-y Ltay t e affecled by genet ic and
non-qenetic factors not detected b_, this assay.

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