Orphanet: Diagnosis of Frontotemporal Dementia MAPT, GRN, PSEN1, CHMP2B and C9ORF72 gene

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Diagnosis of Frontotemporal Dementia (MAPT, GRN, PSEN1, CHMP2B and C9ORF72 gene)

  • Laboratorium voor Genoomdiagnostiek
  • Afdeling Klinische Genetica
  • Amsterdam UMC, locatie VUmc
  • De Boelelaan 1117
  • Director of laboratory : Dr E.A. [Erik] SISTERMANS
  • More information
  • Phone : +31 (0)20 444 8346
  • Additional Phone : -
  • Fax : +31 (0)20 444 8293
  • Website
  • Contact
Last update: July 2019


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (5)

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.