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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
POLD1 | 3324 | NM_002691.4 | AD |
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