2019 EQA schemes now available

Posted 10/10/2018

Details of the EQA schemes for 2019 are now available at  New schemes include:

    • Hereditary breast and ovarian cancer (panel test)
    • Imprinting and UPD (for Angelman syndrome and Beckwith Wiedemann syndrome)
    • Neurofibromatosis (types 1 and 2) and schwannomatosis
    • Osteogenesis Imperfecta
    • Phaeochromocytoma and Paraganglioma disorders (endocrine tumour predispostion and Von Hippel Lindau disease)
    • Retinal disorders
    • Variant validation 
    • X-inactivation
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