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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessPolyposis, familial adenomatous; FAP

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion familial adenomatous polyposis, FAP

ID
FS0070
Number of genes
1 Accredited laboratory test
Examined sequence length
8,6 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
APC8532NM_000038.6AD

Informations about the disease

Clinical Comment

Hundreds to thousands adenomas in rectum + colon in 2nd decade

 

Synonyms
  • Alias: Colorectal adenomatous polyposis
  • Alias: Familial polyposis coli, FAP
  • Alias: Gardner syndrome
  • Allelic: APC-related attenuated familial adenomatous polyposis (APC)
  • Allelic: Adenoma, periampullary, somatic (APC)
  • Allelic: Brain tumor-polyposis syndrome 2 (APC)
  • Allelic: Colorectal cancer, somatic (APC)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Allelic: Gastric cancer, somatic (APC)
  • Allelic: Hepatoblastoma, somatic (APC)
  • Adenomatous polyposis coli (APC)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined