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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLateral meningocele syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Lateral-meningocele syndrome comprising altogether 25 curated genes according to the clinical signs

ID
LP7114
Number of genes
16 Accredited laboratory test
Examined sequence length
7,0 kb (Core-/Core-canditate-Genes)
46,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
NOTCH36966NM_000435.3AD
BRAF2301NM_004333.6AD
FBN18616NM_000138.5AD
KRAS567NM_004985.5AD
LZTR12523NM_006767.4AD
MAP2K11182NM_002755.4AD
NF18457NM_001042492.3AD
NRAS570NM_002524.5AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
RASA22550NM_006506.5AD
RIT1660NM_006912.6AD
SMAD31278NM_005902.4AD
SOS14002NM_005633.4AD
TGFBR11512NM_004612.4AD
TGFBR21704NM_003242.6AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined