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ErkrankungMorbus Huntington-ähnliche Krankheit 1, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Morbus Huntington-ähnliche Krankheit 1 mit 7 Leitlinien-kuratierten bzw. zusammen genommen 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP1779
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,5 kb (Core-/Basis-Gene)
52,0 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
ATXN23462AD
ATXN31086AD und/oder Ass
ATXN72679AD
C9orf721446AD
HTT9429AD
JPH3561AD
PRNP762AD
APP2313AD und/oder Mult
ATXN12448AD
CACNA1A6786AD und/oder Ass
CHMP2B642AD
CSF1R2919AD
FUS1581AD und/oder AR und/oder Gen Fusion
GBA1611AD und/oder AR und/oder Sus
GRN1782AD und/oder AR
HNRNPA11119AD
HNRNPA2B11026AD
MAPT1326AD und/oder AR und/oder Mult und/oder Sus
PANK21713AR
PSEN11404AD
PSEN21347AD
SNCA423AD
SNCB405AD
TARDBP1245AD
VCP2421AD

Infos zur Erkrankung

Synonyme
  • Genetic prion disease: Creutzfeldt-Jakob d., fatal fam. insomnia, Gerstmann-Sträussler-Scheinker s.
  • Alias: Chorea Huntington-ähnliche Krankheit 1
  • Alias: Early-onset prion disease with prominent psychiatric features
  • Alias: Früh-einsetzende Prionkrankheit mit prominenten psychiatrischen Merkmalen
  • Alias: Huntington disease-like 1
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Alzheimer disease 1, familial (APP)
  • Alzheimer disease, type 3 (PSEN1)
  • Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Alzheimer disease-4 (PSEN2)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 20 (HNRNPA1)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Aphasia, primary progressive (GRN)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, Lewy body (SNCA, SNCB)
  • Dementia, frontotemporal (PSEN1)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Developmental + epileptic encephalopathy 42 (CACNA1A)
  • Episodic ataxia, type 2 (CACNA1A)
  • 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)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Gerstmann-Straussler disease (PRNP)
  • HARP syndrome [Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigm., Pallidal degen.] (PANK2)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Huntington disease-like 2 (JPH3_CTG)
  • Inclusion body myopathy + early-onset Paget dis. no frontotemporal dementia 3 (HNRNPA1)
  • Inclusion body myopathy + early-onset Paget dis. with/-out frontotemporal dementia 2 (HNRNPA2B1)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Insomnia, fatal familial (PRNP)
  • Kuru, susceptibility to (PRNP)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Lewy body dementia, susceptibility to (GBA)
  • Machado-Joseph disease (ATXN3_CAG)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Pick disease (MAPT)
  • Pick disease (PSEN1)
  • Spinocerebellar ataxia 1 (ATXN1_CAG)
  • Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Spinocerebellar ataxia 6 (CACNA1A_CAG)
  • Spinocerebellar ataxia 7 (ATXN7_CAG)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Supranuclear palsy, progressive (MAPT)
  • Supranuclear palsy, progressive atypical (MAPT)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Gen Fusion
  • AD und/oder AR und/oder Mult und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
A81.0

Bioinformatik und klinische Interpretation

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