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ErkrankungVaskulopathie, retinal, mit zerebraler Leukoenzephalopathie + systemischen Manifestationen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Vaskulopathie, retinal, mit zerebraler Leukoenzephalopathie + systemischen Manifestationen mit 1 bzw. zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP5550
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,0 kb (Core-/Basis-Gene)
35,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
TREX1945AD und/oder AR und/oder Ass
CTLA4525AD und/oder Ass
CTSA1497AR und/oder Mult
DNASE1849AD und/oder Ass
FCGR2A954AD und/oder AR und/oder Ass
FCGR2B873AD und/oder Ass
GLA1290XL and/or Mult
HTRA11443AD und/oder AR und/oder Mult
NF18457AD und/oder SMu und/oder Sus
NOTCH36966AD und/oder Mult
PTPN222340AD und/oder AR und/oder Ass
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus

Infos zur Erkrankung

Synonyme
  • Allelic: Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Allelic: Autoimmune lymphoproliferative syndrome, type V (CTLA4)
  • Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
  • Allelic: Chilblain lupus (TREX1)
  • Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
  • Allelic: Diabetes, type 1, susceptibility to (PTPN22)
  • Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
  • Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
  • Allelic: Hashimoto thyroiditis (CTLA4)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Malaria, resistance to (FCGR2B)
  • Allelic: Malaria, severe, susceptibility to (FCGR2A)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis (FCGR2A)
  • Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
  • Allelic: Watson syndrome (NF1)
  • CARASIL syndrome (HTRA1)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
  • Galactosialidosis (CTSA)
  • Lupus nephritis, susceptibility to (FCGR2A)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Systemic lupus erythematosus susceptibility to (PTPN22)
  • Systemic lupus erythematosus, susceptibility to (CTLA4)
  • Systemic lupus erythematosus, susceptibility to (DNASE1)
  • Systemic lupus erythematosus, susceptibility to (FCGR2B)
  • Systemic lupus erythematosus, susceptibility to (TREX1)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Mult
  • AD und/oder Ass
  • AD und/oder Mult
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR und/oder Mult
  • XL and/or Mult
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
M31.8

Bioinformatik und klinische Interpretation

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