Charcot Marie Tooth disease (CMT)
Hereditary Liability to Pressure Palsies (HNPP)
Hereditary Motor and Sensory Neuropathy (HMSN)
PMP22, MPZ, GJB1, MFN2
PURPOSE OF PROGRAMME:
Molecular testing for Charcot Marie Tooth disease (CMT), Hereditary Liability to Pressure Palsies (HNPP), Hereditary Motor and Sensory Neuropathy (HMSN).
GenQA (Genomics Quality Assessment) provides external quality assessment (EQA) / proficiency testing (PT) to the genomics community worldwide. GenQA EQAs cover the entire clinical genomics service from patient counselling, sample preparation, testing processes, results interpretation and reporting. Laboratories and individual clinicians have access to more than 100 unique EQAs available for a range of rare and inherited disorders and acquired diseases.
Please click here for an overview of GenQAFor the most up-to-date scheme information (including any pilot schemes) please contact the centre directly.