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Dihydropyrimidine dehydrogenase (DPYD) deficiency

Region: DPYD 1p21.3

General information
The SALSA MLPA Probemix P103 DPYD is a research use only (RUO) assay for the detection of deletions or duplications in the DPYD gene, which is associated with DPD deficiency and the breakdown of 5-fluorouracil (5-FU) which is one of the most widely used drugs for cancer chemotherapy. Furthermore, this probemix can also be used to detect the presence of the c.1129-5923C>G and the c.1905+1G>A (IVS14+1G>A) mutations and the wild type sequences of the c.1679T>G and c.2846A>T mutations.

DPD deficiency is a clinically heterogeneous disorder. The variability ranges from no symptoms to a convulsive disorder with motor retardation and mental retardation in homozygous patients (OMIM#274270). The frequency of a homozygous defect in the DPYD gene is estimated to be 1:10.000 in most populations. Individuals with enzymatic activities in the heterozygous range can experience acute 5-FU toxicity when they receive chemotherapy with 5-FU. The number of individuals that have only one intact copy of the DPYD gene might be as high as 3%. It is estimated that 0.5% of all colorectal cancer patients that receive 5-FU treatment die from adverse drug reactions. See the table on page 1 of the Product Description for more information about the predicted effect of the DPYD mutations included in this probemix on DPD activity.

The DPYD gene (24 exons) spans ~843 kb of genomic DNA and is located on 1p21.3, ~97 Mb from the p-telomere.

More information is available at

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P103-C1 DPYD contains 45 MLPA probes with amplification products between 130 and 490 nucleotides (nt). This includes 33 copy number probes for the DPYD gene, at least one probe for all 24 exons with the exception of exon 6 which is only present in transcript variant 2 (NM_001160301.1). Transcript variant 1 (NM_000110.4) consists of 23 exons. Furthermore, two probes specific for the c.1129-5923C>G and c.1905+1G>A mutations, which will only generate a signal when the mutations is present, and two probes specific for the wild type sequence of the c.1679T>G and c.2846A>T mutations are included. A reduced signal in these wild type probes can point towards the presence of the mutation or a deletion of the exon. In addition, eight reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at

SALSA Binning DNA SD073
The SD073 Binning DNA provided with this probemix can be used for binning of all probes including the two mutation-specific probes (355 nt probe 21643-L30258 detecting c.1129-5923C>G mutation and 436 nt probe 06352-L05868 detecting c.1905+1G>A mutation). SD073 Binning DNA is a mixture of genomic DNA from healthy individuals and synthetic DNA that contains the target sequence detected by the above mentioned probe. Inclusion of one reaction with 5 μl SD073 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software. Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signal(s). It is strongly advised that all samples tested are extracted with the same method and derived from the same source of tissue. For further details, please consult the SD073 Binning DNA product description, available online: This product is for research use only (RUO).

Sample DNA
Sample DNA developed for this product:

Order Items


Item no.
SALSA MLPA Probemix P103 DPYD – 25 rxn
€ 281.00
SALSA MLPA Probemix P103 DPYD – 50 rxn
€ 550.00
SALSA MLPA Probemix P103 DPYD – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 341.00
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 341.00
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1571.00
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1571.00
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6037.00

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