Molecular Diagnostic Testing

Diagnostic testing for the following diseases is offered:

1. Amyloidosis (FAP)
2. Huntington disease (HD)
3. Ataxia (FRDA, APTX, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and DRPLA)
4. Charcot-Marie-Tooth (CMT) disease (CMT1A, CMT1B, CMT1E, CMT1F, CMT2A, CMT2E, CMT2I, CMT2J, CMT2K, CMT4 and CMT1X)
5. Hereditary neuropathy with liability to pressure palsies (HNPP)
6. Spinal Muscular Atrophy (SMA, SBMA)
7. Limb Girdle Muscular Dystrophy (LGMD2)
8. Myotonic Dystrophy (DM1)
9. Amyotrophic Lateral Sclerosis (ALS)

You may download the Referral form from here which also includes sampling and shipping information.  

Each sample should be accompanied by a completed and signed Referral Letter and a signed Informed Consent Form. The Neurogenetics Department does not accept samples directly from patients.

Consent form in Greek or in English.

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