Orphanet: Molecular diagnosis of Frontotemporal Dementia MAPT, GRN, CHMP2B, PRKAR1B and C9ORF72 gene

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Molecular diagnosis of Frontotemporal Dementia (MAPT, GRN, CHMP2B, PRKAR1B and C9ORF72 gene)

  • Sectie DNA diagnostiek
  • Afdeling Klinische Genetica
  • Erasmus MC, Faculteitsgebouw
  • Dr. Molewaterplein 50
  • Director of laboratory : Dr E.H. [Lies] HOEFSLOOT
  • More information
  • Phone : +31 (0)10 704 3197
  • Additional Phone : -
  • Fax : +31 (0)10 704 3200
  • Website
  • Contact
Last update: March 2017


Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing

Quality management


EQA scheme(s) organized by UKNEQAS

C9orf72 related Frontotemperal Dementia and/or Amyotrophic Lateral Sclerosis PILOT
2015, 2016
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