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. 2012 Apr 19;4(3):343–354. doi: 10.1007/s12687-012-0093-1

Table 4.

DNA-based tests

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)