Molecular Diagnostic Testing

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 and ALS10)
10. Parkinson disease (LRRK2 gene G20195 mutation - PARK8)
11. Hereditary spastic paraplegia (SPG3A, SPG4 and SPG44)

You may download the "Request for DNA diagnostic tests" form in English and in Greek.  Both forms also include sampling and shipping information.

Each sample should be accompanied by a completed and signed "Request for DNA diagnostic tests" form and a signed Informed Consent Form. Consent form in Greek or in English.

The Department does not accept samples directly from patients.

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) from here.  You may get the relevant "Request and consent forms" (Greek) from here.

The Department is certified by the European Molecular Genetics Quality Network (EMQN) for most of its diagnostic services.  The 2009 scheme certification is here.