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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPolyposis syndrome, juvenile

Request form illness

Summary

Short information

Two guideline-curated gene sequence analyses according to the clinical suspicion juvenile polyposis syndrome

ID
JS1001
Number of genes
2 Accredited laboratory test
Examined sequence length
3,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BMPR1A1599NM_004329.3AD
SMAD41659NM_005359.6AD

Informations about the disease

Clinical Comment

Juvenile polyposis

 

Synonyms
  • Alias: Nicht-adenomatöse Polyposis-Syndrom [Nomenklatur Leitlinie]
  • Alias: Familiäre juvenile Polyposis, FJP (BMPR1A)
  • Alias: Juvenile gastrointestinal polyposis (BMPR1A)
  • Alias: Juvenile intestinal polyposis (BMPR1A)
  • Alias: Juvenile polyposis syndrome, infantile form (BMPR1A)
  • Allelic: Myhre syndrome (SMAD4)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
  • Polyposis, juvenile intestinal (BMPR1A)
  • Polyposis, juvenile intestinal (SMAD4)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined