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

14 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

9,4 kb (Core-/Core-canditate-Gene)
35,6 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
LZTR1	2523	600574	NM_006767.4	AD
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
APC	8532	611731	NM_000038.6	AD
MLH1	2271	120436	NM_000249.4	AR
MN1	3963	156100	NM_002430.3	AD
MSH2	2805	609309	NM_000251.3	AR
MSH6	4083	600678	NM_000179.3	AR
PDGFB	726	190040	NM_002608.4	AD
PMS2	2589	600259	NM_000535.7	AD
TP53	1182	191170	NM_000546.6	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

Bioinformatik und klinische Interpretation

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