ErkrankungCherubismus, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Cherubismus mit 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP6961
Anzahl Gene
19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,7 kb (Core-/Basis-Gene)
42,3 kb (Erweitertes Panel)
42,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
SH3BP2 | 1686 | AD | |
BRAF | 2301 | AD und/oder SMu und/oder Sus | |
CASR | 3237 | AD und/oder AR | |
CDC73 | 1596 | AD und/oder Sus | |
GCM2 | 1521 | AD und/oder AR | |
KRAS | 567 | AD und/oder SMu und/oder Sus | |
LZTR1 | 2523 | AD und/oder AR und/oder SMu | |
MAP2K1 | 1182 | AD | |
MAP2K2 | 1203 | AD | |
MEN1 | 1833 | AD und/oder Sus | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
NRAS | 570 | AD und/oder SMu und/oder Sus | |
PTPN11 | 1782 | AD und/oder SMu | |
RAF1 | 1947 | AD | |
RASA2 | 2550 | AD | |
RIT1 | 660 | AD | |
RRAS | 657 | AD und/oder SMu | |
SOS1 | 4002 | AD | |
SOS2 | 3999 | AD |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
L94.8
Bioinformatik und klinische Interpretation
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