Klinische FragestellungMeningiom, multiples, familiäres; Suszeptibilität
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 17 Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für multiple familiäre Meningiome
ID
MP1298
Anzahl Gene
7
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,9 kb (Core-/Core-canditate-Gene)
11,6 kb (Erweitertes Panel: inkl. additional genes)
11,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Synonyme
- Alias: Familial multiple meningioma
- Alias: Meningioma, familial, susceptibility to
- Allelic: Basal cell nevus syndrome (SUFU)
- Allelic: Basal cell nevus syndrome 1 (PTCH1)
- Allelic: Basal ganglia calcification, idiopathic, 5 (PDGFB)
- Allelic: CEBALID syndrome (MN1)
- Allelic: Coffin-Siris syndrome 3 (SMARCB1)
- Allelic: Coffin-Siris syndrome 5 (SMARCE1)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Dermatofibrosarcoma protuberans (PDGFB)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Holoprosencephaly 7 (PTCH1)
- Allelic: Joubert syndrome 32 (SUFU)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Medulloblastoma, desmoplastic (SUFU)
- Allelic: Prostate cancer (PTEN)
- Allelic: Rhabdoid tumors, somatic (SMARCB1)
- Brain, CNS + PNS cancer [panelapp] (APC)
- Brain, CNS + PNS cancer [panelapp] (LZTR1)
- Brain, CNS + PNS cancer [panelapp] (MLH1)
- Brain, CNS + PNS cancer [panelapp] (MSH2)
- Brain, CNS + PNS cancer [panelapp] (MSH6)
- Brain, CNS + PNS cancer [panelapp] (NF2)
- Brain, CNS + PNS cancer [panelapp] (PMS2)
- Brain, CNS + PNS cancer [panelapp] (PTCH1)
- Brain, CNS + PNS cancer [panelapp] (PTEN)
- Brain, CNS + PNS cancer [panelapp] (SMARCB1)
- Brain, CNS + PNS cancer [panelapp] (SMARCE1)
- Brain, CNS + PNS cancer [panelapp] (SUFU)
- Brain, CNS + PNS cancer [panelapp] (TP53)
- Meningioma (MN1)
- Meningioma (PTEN)
- Meningioma, NF2-related, somatic (NF2)
- Meningioma, SIS-related (PDGFB)
- Meningioma, familial, susceptibility to (SMARCE1)
- Meningioma, familial, susceptibility to (SUFU)
- Neurofibromatosis, type 2 (NF2)
- Schwannomatosis, somatic (NF2)
- Schwannomatosis-1, susceptibility to (SMARCB1)
- Werner syndrome (WRN)
Erbgänge, Vererbungsmuster etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D32.-
Bioinformatik und klinische Interpretation
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