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Table 5 Top 15 molecular genetic tests in Italy, year 2011

From: Survey of medical genetic services in Italy: year 2011

  Number Percent
Cystic fibrosis (CFTR) 55716 21
Factor V Leiden mutation (F5) 24834 9
Coagulation Factor II mutation (F2) 20393 8
MTHFR Deficit 18526 7
Celiac Disease (HLA) 11824 4
Beta thalassemia (HBB) 7796 3
Fragile X syndrome (FRAXA) 7695 3
Chronic Myeloid Leukaemia (BCR/ABL) 7131 3
Rheumatic Diseases (HLA) 6431 2
Hemochromatosis (HFE) 5088 2
Neurosensory deafness (GJB6) 4895 2
Duchenne/Becker muscular dystrophy (DMD) 3823 1
Breast cancer (BRCA1/2) 3821 1
Acute Myeloid Leukaemia 3579 1
Y chromosome microdeletion (AZF) 3127 1
Total 184679 70