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Diagnostic of rare neurodegenerative diseases (gene panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/06/2020
  • Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)
  • Institut de Pathologie et de Génétique
  • Avenue Georges Lemaître, 25
  • 6041 GOSSELIES
  • BELGIUM
  • Director of laboratory : Dr Pascale HILBERT
  • More information
  • Phone : +32 (0)71 47 30 47
  • Additional Phone : +32 (0)71 44 71 81
  • Fax : +32 (0)71 34 78 61
  • Website
  • Contact
Last update: June 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (32)
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 4
Autosomal dominant spastic paraplegia type 10
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 78
Behavioral variant of frontotemporal dementia
Classic progressive supranuclear palsy syndrome
Early-onset autosomal dominant Alzheimer disease
Familial Alzheimer-like prion disease
Fatal familial insomnia
Frontotemporal dementia with motor neuron disease
Gerstmann-Straussler-Scheinker syndrome
Hereditary late-onset Parkinson disease
Huntington disease-like 1
Huntington disease-like syndrome due to C9ORF72 expansions
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inherited Creutzfeldt-Jakob disease
Kufor-Rakeb syndrome
Neuronal ceroid lipofuscinosis
Parkinson-dementia complex of Guam
Parkinsonian-pyramidal syndrome
PrP systemic amyloidosis
Progressive non-fluent aphasia
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-parkinsonism syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Semantic dementia
Spastic paraplegia-Paget disease of bone syndrome
Spinocerebellar ataxia with axonal neuropathy type 2
Young-onset Parkinson disease
List of genes tested (including panels) (35)
ANG
APP
ATP13A2
C9ORF72
CHMP2B
DCTN1
ERBB4
FUS
GBA1
GRN
KIF5A
LRRK2
MAPT
MATR3
NEFH
NOTCH3
OPTN
PARK7
PFN1
PINK1
PRKN
PRNP
PRPH
PSEN1
PSEN2
SETX
SIGMAR1
SNCA
SOD1
SPG11
TARDBP
TUBA4A
UBQLN2
VAPB
VCP

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.