IllnessPolyposis, familial adenomatous 4
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion familial adenomatous polyposis 4
ID
KS1005
Number of genes
1
Accredited laboratory test
Examined sequence length
3,5 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 | Heredity |
---|---|---|---|
MSH3 | 3414 | AR |
Informations about the disease
Clinical Comment
FAP with <100 adenomatous colonic polyps, more proximal colonic location, delayed age of CRC onset, more limited expression of extracolonic features
Synonyms
- Alias: Familial adenomatous polyposis 4 (MSH3)
- Alias: MSH3-related AFAP
- Alias: MSH3-related attenuated FAP
- Alias: MSH3-related attenuated familial adenomatous polyposis
- Allelic: Endometrial carcinoma, somatic (MSH3)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
K63.8
Bioinformatics and clinical interpretation
No text defined