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 |