DISEASES IN WHICH MOLECULAR DIAGNOSIS IS MADE IN THE DEPARTMENT

CYSTIC FIBROSIS OF THE PANCREAS. MIM 219700

NEUROFIBROMATOSIS type 1. MIM 162200

DOMINANT ATAXIAS (OPCAs):

SCA1 - MIM 164400
SCA2 - MIM 183090
SCA3 - MIM 109150
SCA6 - MIM 183086
SCA7 - MIM 164500
SCA8 - MIM 603680
SCA12 - MIM 604326
SCA 17 - MIN 600074
DRPLA - MIM 125370

FRIEDREICH\'S ATAXIA. MIM 229300.

SPINAL BULBAR MUSCULAR ATROPHY or Kennedy\'s disease. MIM 313200.

HEREDITARY SENSITIVE-MOTOR NEUROPATHIES:

Charcot-Marie-Tooth type 1. MIM 118200
Charcot-Marie-Tooth, X-linked. MIM 302800
Neuropathy with liability to pressure palsy or tomaculous neuropathy. MIM 162500

MIM = Mendelian Inheritance in Man; Identification number of the disease in the catalogue: http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits

· The abovementioned diseases are listed in the European Directory of DNA Laboratories (EDDNAL), which can be accessed through on Internet: http://www.eddnal.com

Quality controls are currently performed by the European Molecular Genetics Quality Network (EMQN), http://www.emqn.org/emqn.php with respect to the Charcot-Marie-Tooth syndrome, tomaculous neuropathy, dominant ataxias, Friedreich\'s ataxia and cystic fibrosis. Neurofibromatosis will be subject to the pertinent controls once they become available.