Klinische FragestellungLaterale-Meningozele-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Laterale-Meningozele-Syndrom mit zusammen genommen 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP7114
Anzahl Gene
8
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,0 kb (Core-/Core-canditate-Gene)
33,0 kb (Erweitertes Panel: inkl. additional genes)
33,0 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. Lehman syndrome
- Alias: NOTCH3-Related Lateral Meningocele Syndrome
- Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
- Allelic: Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
- Allelic: Congenital heart defects, multiple types, 8, with/_out heterotaxy (SMAD2)
- Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
- Atypical Noonan syndrome (RRAS)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
- Hajdu-Cheney syndrome (NOTCH2)
- LEOPARD syndrome 3 (BRAF)
- Lateral meningocele syndrome (NOTCH3)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Loeys-Dietz syndrome 6 (SMAD2)
- Marfan syndrome (FBN1)
- Neurofibromatosis type 1 (NF1)
- Noonan syndrome (RASA2)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 10 (LZTR1)
- Noonan syndrome 11 (MRAS)
- Noonan syndrome 2 (LZTR1)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome 4 (SOS1)
- Noonan syndrome 5 (RAF1)
- Noonan syndrome 6 (NRAS)
- Noonan syndrome 7 (BRAF)
- Noonan syndrome 8 (RIT1)
- Noonan syndrome 9 (SOS2)
- Noonan syndrome-like (RRAS)
Erbgänge, Vererbungsmuster etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D32.-
Bioinformatik und klinische Interpretation
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