English
Klinische FragestellungPerry-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Perry-Syndrom mit 5 Leitlinien-kuratierten und insgesamt 12 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP3335
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 11 |
Untersuchte Sequenzlänge
3,9 kb (Core-/Core-canditate-Gene)
37,4 kb (Erweitertes Panel: inkl. additional genes)
37,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| DCTN1 | 3837 | NM_004082.5 | AD | |
| C9orf72 | 1446 | NM_018325.5 | AD | |
| FBXO7 | 1332 | NM_001033024.2 | AR | |
| GRN | 1782 | NM_002087.4 | AD, AR | |
| LRRK2 | 7584 | NM_198578.4 | AD | |
| MAPT | 1326 | NM_005910.6 | AD, AR | |
| PARK7 | 570 | NM_007262.5 | AR | |
| PINK1 | 1746 | NM_032409.3 | AR | |
| PRKN | 1398 | NM_004562.3 | AR | |
| SYNJ1 | 4839 | NM_003895.3 | AR | |
| VPS13C | 11512 | NM_001018088.3 | AR |
Infos zur Erkrankung
Synonyme
- Alias: DCTN1-related neurodegeneration
- Alias: Parkinsonismus - alveolare Hypoventilation - psychische Depression
- Alias: Perry disease (DCNT1)
- Allelic: Developmental + epileptic encephalopathy 53 (SYNJ1)
- Allelic: Distal hereditary motor neuronopathy type 7B (DCTN1)
- Allelic: Frontotemporal dementia (DCTN1)
- Allelic: Motor neuron disease / amyotrophic lateral sclerosis (DCTN1)
- Allelic: Progressive supranuclear palsy (DCTN1)
- Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
- Aphasia, primary progressive (GRN)
- Ceroid lipofuscinosis, neuronal, 11 (GRN)
- Dementia, frontotemporal, with/-out parkinsonism (MAPT)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
- Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
- Parkinson disease 15, AR (FBXO7)
- Parkinson disease 19a, juvenile-onset (DNAJC6)
- Parkinson disease 19b, early-onset (DNAJC6)
- Parkinson disease 20, early-onset (SYNJ1)
- Parkinson disease 23, AR, early onset (VPS13C)
- Parkinson disease 6, early onset (PINK1)
- Parkinson disease 7, AR early-onset (PARK7)
- Parkinson disease 8 (LRRK2)
- Parkinson disease, juvenile, type 2 (PRKN)
- Parkinson disease, susceptibility to (MAPT)
- Perry syndrome (DCTN1)
- Pick disease (MAPT)
- Supranuclear palsy, progressive (MAPT)
- Supranuclear palsy, progressive atypical (MAPT)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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