English
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)
29,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + [X]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| C9orf72 | 1446 | AD | |
| CHMP2B | 642 | AD | |
| FUS | 1581 | AD und/oder AR und/oder Gen Fusion | |
| HTT | 9429 | AD | |
| SOD1 | 465 | AD und/oder AR | |
| TARDBP | 1245 | AD | |
| VCP | 2421 | AD | |
| ABCD1 | 2238 | XLR | |
| CYP27A1 | 1596 | AR | |
| GRN | 1782 | AD und/oder AR | |
| HNRNPA1 | 1119 | AD | |
| HNRNPA2B1 | 1026 | AD | |
| MAPT | 1326 | AD und/oder AR und/oder Mult und/oder Sus | |
| PRNP | 762 | AD | |
| PSEN1 | 1404 | AD | |
| PSEN2 | 1347 | AD |
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 Mult und/oder Sus
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
F02.2*
Bioinformatik und klinische Interpretation
Kein Text hinterlegt