©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOsteochondromas, multiple; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Osteochondromas, multiple, comprising 7 curated genes according to the clinical signs

Number of genes
3 Accredited laboratory test
Examined sequence length
4,4 kb (Core-/Core-canditate-Genes)
6,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
EXT12241AD, Sus
EXT22157AD, Sus

Informations about the disease

  • Alias: Bessel-Hagen-Krankheit
  • Alias: Diaphyseal Aclasis
  • Alias: Hereditary Multiple Exostoses
  • Alias: Multiple Cartilaginous Exostoses
  • Alias: Multiple kartilaginären Exostosen
  • DD: Potocki-Shaffer syndrome, proximal 11p deletion (contiguous deletion ALX4-EXT2-PHF21A)
  • DD: Trichorhinophalangeal syndrome II, Langer-Giedion syndrome (contig. deletion EXT1-RAD21-TRPS1)
  • Allelic: Craniosynostosis 5, susceptibility to (ALX4)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Allelic: Noonan syndrome 1 (PTPN11)
  • Allelic: Seizures, scoliosis + macrocephaly syndrome (EXT2)
  • Chondrosarcoma (EXT1)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Exostoses, multiple, type 1 (EXT1)
  • Exostoses, multiple, type 2 (EXT2)
  • Frontonasal dysplasia 2 (ALX4)
  • Intellectual developmental disorder, behav. abnormal, craniofacial dysmorphism +/- seizures (PHF21A)
  • Metachondromatosis (PTPN11)
  • Mungan syndrome (RAD21)
  • Parietal foramina 2 (ALX4)
  • Trichorhinophalangeal syndrome, type I + III (TRPS1)
Heredity, heredity patterns etc.
  • AD
  • Sus
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined