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
  • 3015 GE ROTTERDAM
  • NETHERLANDS
  • 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

Purpose(s)

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
 EQA

EQA scheme(s) organized by UKNEQAS

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