©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPerry syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Perry syndrome comprising 5 guideline-curated genes and altogether 12 curated genes according to the clinical signs

ID
PP3335
Number of genes
11 Accredited laboratory test
Examined sequence length
3,9 kb (Core-/Core-canditate-Genes)
37,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DCTN13837NM_004082.5AD
C9orf721446NM_018325.5AD
FBXO71332NM_001033024.2AR
GRN1782NM_002087.4AD, AR
LRRK27584NM_198578.4AD
MAPT1326NM_005910.6AD, AR
PARK7570NM_007262.5AR
PINK11746NM_032409.3AR
PRKN1398NM_004562.3AR
SYNJ14839NM_003895.3AR
VPS13C11512NM_001018088.3AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined