Neurogenetics Department

List of Services

Molecular diagnostic testing for the following diseases is offered:

  1. Amyloidosis (FAP)
  2. Huntington disease (HD)
  3. Ataxia (FRDA, APTX, SCA Panel, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and DRPLA)
  4. Charcot-Marie-Tooth (CMT) disease-Demyelinating (CMT1A, CMT1B, CMTX1, CMT1D, CMT1E, CMT1F, CMT4A, and CMT4E)
  5. Charcot-Marie-Tooth (CMT) disease -Axonal (CMT2A, CMTX1, CMT2D, CMT2E, CMT2I, CMT2J, CMT2K, and ARCMT2)
  6. Hereditary neuropathy with liability to pressure palsies (HNPP)
  7. Spinal Muscular Atrophy (SMA, SBMA, DSMAV and HMN5)
  8. Myotonic Dystrophy (DM1)
  9. Amyotrophic Lateral Sclerosis (ALS1, ALS10 and ALS6)
  10. Parkinson disease (LRRK2 gene G20195 mutation - PARK8)
  11. Hereditary spastic paraplegia (SPG3A, SPG4, SPG44 and SPG31)

The Neurogenetics Department has recently launched the "National prevention programme for Friedreich ataxia", in collaboration with the Ministry of Health.  You may get additional information from the relevant leaflet (Greek) here.  You may get the relevant "Request and consent forms" here.

The Department is certified by the European Molecular Genetics Quality Network (EMQN) for most of its diagnostic services.  The 2014 scheme certification is here.

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