Klinische FragestellungMeningiom, multiples, familiäres; Suszeptibilität

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 17 Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für multiple familiäre Meningiome

MP1298

Anzahl Gene

7 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

6,9 kb (Core-/Core-canditate-Gene)
11,6 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
NF2	1788	607379	NM_000268.4	AD
PTEN	1212	601728	NM_000314.8	AD
SMARCB1	1158	601607	NM_003073.5	AD
SMARCE1	1236	603111	NM_003079.5	AD
SUFU	1455	607035	NM_016169.4	AD
MN1	3963	156100	NM_002430.3	AD
PDGFB	726	190040	NM_002608.4	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

D32.-

Bioinformatik und klinische Interpretation

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