Table 4.
Test | 1999 | 2000 | 2001 | 2002 | 2003 | 2004 | 2005 | 2006 | 2007 | 2008 | 2009 |
---|---|---|---|---|---|---|---|---|---|---|---|
Fragile X | 146 | 111 | 172 | 106 | 174 | 129 | 137 | 165 | 196 | 223 | 182 |
Cystic fibrosis DeltaF508 | 153 | 172 | 91 | 106 | 149 | 122 | 123 | 154 | 156 | 156 | 161 |
Cystic fibrosis 29–31 mutatione | 85 | 101 | 94 | 78 | 112 | 149 | 163 | 231 | 215 | 252 | 212 |
Cystic fibrosis linkage | 36 | 12 | 19 | 20 | 17 | 3 | 11 | 17 | 11 | 12 | 9 |
Prader–Willi–Angelman methylation | 45 | 66 | 58 | 53 | 74 | 71 | 65 | 70 | 57 | 83 | 96 |
DANN extraction | 80 | 101 | 190 | 100 | 111 | 169 | 165 | 129 | 115 | 106 | 160 |
SMA (exon 7 y 8) | 36 | 47 | 47 | 35 | 47 | 46 | 54 | 63 | 61 | 70 | 64 |
Miotónic Dystrophyde Steinert, Southern Blot | 21 | 49 | 36 | 51 | 44 | 55 | 55 | 74 | |||
Achondroplasia | 8 | 0 | 26 | 20 | 21 | 9 | 19 | 12 | |||
Hypocohndroplasia | 10 | 0 | 26 | 20 | 21 | 11 | 17 | 13 | |||
Prader–Willi–Angelman linkage | 66 | 46 | 34 | 24 | 3 | 7 | 13 | ||||
Conexin 26 | 21 | 28 | 25 | 38 | 15 | 20 | |||||
Conexin 30 | 26 | 13 | 21 | ||||||||
Mytochondrial mutation A1555G | 15 | 14 | 9 | ||||||||
MTHFR (C677T y A1298C) | 17 | 10 | 87 | ||||||||
Pharmacogenettics TPMT | 33 | 15 | 47 | ||||||||
Friedreich’s Ataxia | 2 | 2 | |||||||||
Total | 581 | 610 | 671 | 537 | 799 | 844 | 871 | 964 | 1,018 | 1,069 | 1,182 |
Pediatric Hospital Garrahan Buenos Aires (1999–2009)