In 2010 the EMQN will be offering 27 EQA schemes, including :

• Breast cancer (Familial - BRCA)
• Charcot-Marie-Tooth disease (CMT)
• Congenital Adrenal Hyperplasia (CAH)
• Constitutional Molecular Karyotyping (Microarray / Array CGH) - pilot scheme
• DNA sequencing (DNA-SEQ)
• Duchenne and Becker Muscular Dystrophy (DMD / BMD)
• Familial Adenomatous Polyposis colon cancer (FAP) - pilot scheme
• Familial Recurrent Fevers (FRF)
• Fragile-X syndrome (FRAX)
• Friedreich ataxia (FRDA)
• Hereditary Deafness (DFNB1)
• Hereditary Haemochromatosis (HFE)
• Hereditary non-polyposis colon cancer (HNPCC)
• Huntington disease (HD)
• Monogenic diabetes (MonoDiab)
• Multiple Endocrine Neoplasia type 2 (MEN2)
• Mutation scanning (MSCAN)
• Myotonic dystrophy (DM)
• Phenylketonuria (PKU)
• Porphyrias (POR)
• Prader-Willi and Angelman syndromes (PW/AS)
• Retinoblastoma (RB)
• Spinal Muscular Atrophy (SMA)
• Spinocerebellar ataxia’s (SCA)
• Von Hippel Lindau Syndrome (VHL)
• Wilson disease (WIL)
• Y-Chromosome microdeletions (AZF - organised in conjunction with the EAA)