Deutsch
IllnessPolyposis, familial adenomatous 3
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion familial adenomatous polyposis 3
ID
NS1008
Number of genes
1
Accredited laboratory test
Examined sequence length
1,0 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 |
|---|---|---|---|---|
| NTHL1 | 915 | NM_002528.7 | AR |
Informations about the disease
Clinical Comment
Increased lifetime risk for colorectal cancer, breast cancer, colorectal polyposis. CR polyps can be adenomatous, hyperplastic, sessile serrated. Duodenal polyposis, additionally endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, hematologic malignancies
Synonyms
- Alias: Familial adenomatous polyposis 3 (NTHL1)
- Alias: NTHL1 tumor syndrome
- Alias: NTHL1-related attenuated FAP
- Alias: NTHL1-related attenuated familial adenomatous polyposis (NTHL1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined