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Know how in the analysis of genetic material.
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IllnessParkinson-Syndrom, früh-adult [<50 Lj.]; Differentialdiagnose

Summary

Short information

PP9145_KI

ID
PP9145
Number of loci
Loci typeCount
Gen6
Accredited laboratory test
Examined sequence length
14,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

PP9145_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LRRK27584NM_198578.4AD
PARK7570NM_007262.5AR
PINK11746NM_032409.3AR
PRKN1398NM_004562.3AR
SNCA423NM_000345.4AD
VPS352391NM_018206.6AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_PP9145

 

Synonyms
  • Alias: Morbus Parkinson; Parkinson disease; []primary] Parkinsonism
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2_CAG)
  • Allelic: Combined SAP deficiency (PSAP)
  • Allelic: Gaucher disease, atypical (PSAP)
  • Allelic: Hyperostosis cranialis interna (SLC39A14)
  • Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Allelic: Krabbe disease, atypical (PSAP)
  • Allelic: Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Allelic: Optic atrophy 3 with cataract (OPA3)
  • Allelic: Spinocerebellar ataxia 17 (TBP_CAG)
  • Allelic: Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Allelic: Spinocerebellar ataxia 8 (ATXN8OS_CTG)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • Aphasia, primary progressive (GRN)
  • Chediak-Higashi syndrome (LYST)
  • Choreoacanthocytosis (VPS13A)
  • Dystonia 12; rapid-onset dystonia-parkinsonism (ATP1A3)
  • Dystonia 16 (PRKRA)
  • Dystonia 4, torsion, AD /TUBB4A)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • HARP [Hyperprebetalipoproteinemia, Acanthocytosis, Rp, Pallidal degener.] syndrome (PANK2)
  • Hyperferritinemia-cataract syndrome (FTL)
  • Hypermanganesemia with dystonia 1 (SLC30A10)
  • Hypermanganesemia with dystonia 2 (SLC39A14)
  • Kufor-Rakeb syndrome; Parkinson disease 9 (ATP13A2)
  • L-ferritin deficiency, AD, AR (FTL)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Machado-Joseph disease (ATXN3_CAG)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Parkinson disease 1 (SNCA)
  • Parkinson disease 11 (GIGYF2)
  • Parkinson disease 13 (HTRA2)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease 15, AR (FBXO7)
  • Parkinson disease 17 (VPS35)
  • Parkinson disease 18 (EIF4G1)
  • Parkinson disease 19a, juvenile-onset (DNAJC6)
  • Parkinson disease 19b, early-onset (DNAJC6)
  • Parkinson disease 2, juvenile (PRKN)
  • Parkinson disease 20, early-onset (SYNJ1)
  • Parkinson disease 22, AD (CHCHD2)
  • Parkinson disease 24, AD, susceptibility to (PSAP)
  • Parkinson disease 4 (SNCA)
  • Parkinson disease 5, susceptibility to (UCHL1)
  • Parkinson disease 6, early onset (PINK1)
  • Parkinson disease 7, AR early-onset (PARK7)
  • Parkinson disease 8 (LRRK2)
  • Parkinson disease susceptibility to [only in OMIM text] (ATXN3_CAG)
  • Parkinson disease, age of onset, modifier (GLUD2)
  • Parkinson disease, late-onset, susceptibility to (ATXN2_CAG)
  • Parkinson disease, late-onset, susceptibility to (GBA)
  • Parkinson disease, susceptibility to (ADH1C, MAPT, TBP)
  • Parkinson disease, susceptibility to (ATXN8OS_CTG)
  • Spastic paraplegia 11, AR (SPG11)
  • Waisman syndrome (RAB39B)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined