©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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.

ID
PG0001
Number of genes
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

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DPYD3078NM_000110.4AR

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.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined