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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessPolyposis, familial adenomatous 4

Request form illness

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)
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
MSH33414NM_002439.5AR

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

Bioinformatics and clinical interpretation

No text defined