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ErkrankungFrontotemporale Demenz (C9orf72) - Amyotrophe Lateralsklerose; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Frontotemporale Demenz (C9orf72) - Amyotrophe Lateralsklerose; Differentialdiagnose mit 3 Leitlinien-kuratierten bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP0031
Anzahl Gene
16 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,3 kb (Core-/Basis-Gene)
29,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + [X]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
C9orf721446AD
CHMP2B642AD
FUS1581AD und/oder AR und/oder Gen Fusion
HTT9429AD
SOD1465AD und/oder AR
TARDBP1245AD
VCP2421AD
ABCD12238XLR
CYP27A11596AR
GRN1782AD und/oder AR
HNRNPA11119AD
HNRNPA2B11026AD
MAPT1326AD und/oder AR und/oder Multl und/oder Sus
PRNP762AD
PSEN11404AD
PSEN21347AD

Infos zur Erkrankung

Synonyme
  • Alias: C9ORF72-related Huntington disease phenocopy
  • Alias: C9ORF72-related Huntington disease-like syndrome
  • Alias: Huntington disease phenocopy due to C9ORF72 expansions
  • Alias: Huntington disease-like syndrome due to C9ORF72 expansions
  • Allelic: Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Allelic: Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Gerstmann-Straussler disease (PRNP)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Pick disease (MAPT, PSEN1)
  • Allelic: Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Allelic: Supranuclear palsy, progressive (MAPT)
  • Allelic: Supranuclear palsy, progressive atypical (MAPT)
  • Adrenoleukodystrophy (ABCD1)
  • Alzheimer disease, type 3 (PSEN1)
  • Alzheimer disease-4 (PSEN2)
  • Amyotrophic lateral sclerosis 1 (SOD1)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 20 (HNRNPA1)
  • Amyotrophic lateral sclerosis 6 with/-out frontotemporal dementia (FUS)
  • Dementia, frontotemporal (PSEN1)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (CHMP2B)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Inclusion body myopathy + early-onset Paget disease with/-out frontotemporal dementia 2 (HNRNPA2B1)
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia (HNRNPA1)
  • Spastic tetraplegia + axial hypotonia, progressive (SOD1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Gen Fusion
  • AD und/oder AR und/oder Multl und/oder Sus
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F02.2*

Bioinformatik und klinische Interpretation

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