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Klinische FragestellungFrontotemporale Demenz (C9orf72) - Amyotrophe Lateralsklerose; Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Frontotemporale Demenz (C9orf72) - Amyotrophe Lateralsklerose; Differentialdiagnose mit 7 Leitlinien-kuratierten bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose

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

NGS + [X]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
C9orf721446NM_018325.5AD
CHMP2B642NM_014043.4AD
FUS1581NM_004960.4AD
HTT9429NM_002111.8AD
SOD1465NM_000454.5AR, AD
TARDBP1245NM_007375.4AD
VCP2421NM_007126.5AD
ABCD12238NM_000033.4XLR
CYP27A11596NM_000784.4AR
GRN1782NM_002087.4AD
HNRNPA11119NM_031157.4AD
HNRNPA2B11026NM_002137.4AD
MAPT1326NM_005910.6AD
PRNP762NM_000311.5AD
PSEN11404NM_000021.4AD
PSEN21347NM_000447.3AD

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
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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