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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessColon carcinoma, POLD1-related

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion colon cancer, POLD1 related

ID
KS0094
Number of genes
1 Accredited laboratory test
Examined sequence length
3,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
POLD13324NM_002691.4AD

Informations about the disease

Clinical Comment

Adenomatous colonic polyposis, colorectal polyposis, endometrial carcinoma; occasionally: Adenocarcinoma of the colon, Brain neoplasm, Breast carcinoma, Neoplasm of the rectum

 

Synonyms
  • Alias: Colon-Ca
  • Alias: Darmkrebs
  • Alias: Kolorektalkarzinom
  • Alias: Polymerase proofreading-related adenomatous polyposis (POLD1=
  • Alias: Rektum-Ca
  • Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
  • Colorectal cancer, susceptibility to, 10 (POLD1)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined