Klinische FragestellungPerry-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Perry-Syndrom mit 5 Leitlinien-kuratierten und insgesamt 12 kuratierten Genen gemäß klinischer Verdachtsdiagnose

PP3335

Anzahl Gene

11 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

3,9 kb (Core-/Core-canditate-Gene)
37,4 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
DCTN1	3837	601143	NM_004082.5	AD
C9orf72	1446	614260	NM_018325.5	AD
FBXO7	1332	605648	NM_001033024.2	AR
GRN	1782	138945	NM_002087.4	AD, AR
LRRK2	7584	609007	NM_198578.4	AD
MAPT	1326	157140	NM_005910.6	AD, AR
PARK7	570	602533	NM_007262.5	AR
PINK1	1746	608309	NM_032409.3	AR
PRKN	1398	602544	NM_004562.3	AR
SYNJ1	4839	604297	NM_003895.3	AR
VPS13C	11512	608879	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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