English
Klinische FragestellungCherubismus, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Cherubismus mit 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP6961
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,7 kb (Core-/Core-canditate-Gene)
43,5 kb (Erweitertes Panel: inkl. additional genes)
43,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| SH3BP2 | 1686 | NM_001122681.2 | AD | |
| BRAF | 2301 | NM_004333.6 | AD | |
| CASR | 3237 | NM_000388.4 | AD | |
| CDC73 | 1596 | NM_024529.5 | AD | |
| GCM2 | 1521 | NM_004752.4 | AD, AR | |
| GNAS | 1185 | NM_000516.7 | AD | |
| KRAS | 567 | NM_004985.5 | AD | |
| LZTR1 | 2523 | NM_006767.4 | AD, AR | |
| MAP2K1 | 1182 | NM_002755.4 | AD | |
| MAP2K2 | 1203 | NM_030662.4 | AD | |
| MEN1 | 1833 | NM_130799.2 | AD | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NRAS | 570 | NM_002524.5 | AD | |
| PTPN11 | 1782 | NM_002834.5 | AD | |
| RAF1 | 1947 | NM_002880.4 | AD | |
| RASA2 | 2550 | NM_006506.5 | AD | |
| RIT1 | 660 | NM_006912.6 | AD | |
| RRAS | 657 | NM_006270.5 | AD | |
| SOS1 | 4002 | NM_005633.4 | AD | |
| SOS2 | 3999 | NM_006939.4 | 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
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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