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

IllnessCherubism, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Cherubism comprising 20 curated genes according to the clinical signs

ID
CP6961
Number of genes
19 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
42,3 kb (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-GHeredity
SH3BP21686XLR
BRAF2301AD
CASR3237AD, AR
CDC731596AD
GCM21521AD, AR
KRAS567AD
LZTR12523AD, AR
MAP2K11182AD
MAP2K21203AD
MEN11833AD
NF18457AD
NRAS570AD
PTPN111782AD
RAF11947AD
RASA22550AD
RIT1660AD
RRAS657AD
SOS14002AD
SOS23999AD

Informations about the disease

Synonyms
  • Alias: Familial benign giant-cell tumor of the jaw
  • Alias: Familial fibrous dysplasia of jaw
  • Alias: Familial multilocular cystic disease of the jaws
  • Atypical Noonan syndrome (RRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cherubism (SH3BP2)
  • Hyperparathyroidism 4 (GCM2)
  • Hyperparathyroidism, familial primary (CDC73)
  • Hyperparathyroidism, neonatal (CASR)
  • Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Hypoparathyroidism, familial isolated 2 (GGCM2)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Multiple endocrine neoplasia 1 (MEN1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 Noonan syndrome 6 (NRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome 9 (SOS2)
  • Osseous heteroplasia, progressive (GNAS)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
  • Rasopathy (RASA2)
  • Watson syndrom (NF1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
L94.8

Bioinformatics and clinical interpretation

No text defined