Deutsch
IllnessPolyposis, MUTYH associated
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion MUTYH-associated polyposis
ID
MS5290
Number of genes
1
Accredited laboratory test
Examined sequence length
1,7 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 |
|---|---|---|---|---|
| MUTYH | 1650 | NM_001128425.2 | AR, Sus |
Informations about the disease
Clinical Comment
Mild FAP form with <100 adenomatous colonic polyps, more proximal colonic location, delayed age of colorectal cancer onset, more limited expression of the extracolonic features
Synonyms
- Alias: Adenomas, multiple colorectal
- Alias: Colorectal adenomatous polyposis, AR, with pilomatricomas
- Alias: MUTYH-related AFAP
- Alias: MUTYH-related attenuated FAP [MAP]
- Alias: MUTYH-related attenuated familial adenomatous polyposis
- Alias: MUTYH-related attenuated familial polyposis coli
- Allelic: Gastric cancer, somatic
Heredity, heredity patterns etc.
- AR
- Sus
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined