Illness5-FU toxicity

Summary

Short information

The decay of 5-Fluorouracil (5-FU) remedies by dihydropyrimidin dehydrogenase (DPD) depends on the herewith analysed genetic variants exerting differential activities.

PG0001

Number of loci

Loci type	Count
Gen	1

Accredited laboratory test

Examined sequence length

3,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

Diagnostics via test strips/DNA sequencing

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DPYD	3078	612779	NM_000110.4	AR

Informations about the disease

Clinical Comment

5-Fluorouracil (5-FU) drugs are frequently used cytostatic drugs for tumor diseases. Certain patients develop severe side effects under therapy (lethality 2/1 000 - 10/1 000. The causes include dihydropyrimidine dehydrogenase (DPD) deficiency, a 5-FU-degrading enzyme whose genetic variants have different activities.

Synonyms

5-FU-Arzneimittelunverträglichkeit
DPD-Defizienz (DPYD)
DPD-Enzymdefizienz (DPYD)
DPD-Mangel (DPYD)
DPD-Polymorphismus (DPYD)
DPYD-Polymorphismus (DPYD)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined