Filename BOLI 1025_ESM_Table S1.doc
Supplementary Table S1 Samples and performance achieved in the Lyon and Prague diagnostic proficiency testing schemes
year / sample / diagnosis / Analytical / Interpretative / Recommendation / Total[%] / [%] / [%] / [%]
2004 / Pr-B / Adenylosuccinate lyase deficiency / 20 / 28 / 45 / 28
2004 / Pr-E / Mucopolysaccharidosis type III / 38 / 28 / 55 / 37
2003 / Ly-5 / Sialidosis* / 50 / 32 / 58 / 44
2007 / Pr-D / Adenine phosphoribosyltransferase def. + mucopolysaccharidosis type IV / 51 / 47 / 53 / 50
2006 / Pr-D / Molybdenum cofactor deficiency / 50 / 53 / 50 / 51
2007 / Ly-4 / 11Aspartylglucosaminuria / 55 / 55 / 55 / 55
2002 / Ly-2 / Isolated sulphite oxidase def / 62 / 62 / 62 / 62
2002 / Ly-3 / Biotinidase deficiency* / 68 / 64 / 57 / 64
2006 / Pr-A / 11Aspartylglucosaminuria / 64 / 61 / 72 / 64
2006 / Ly-1 / Aromatic amino acid decarboxylase (AADC) def. / 58 / 68 / 74 / 65
2004 / Ly-3 / Septic shock / 84 / 63 / 42 / 67
2005 / Ly-3 / Peroxisomal disorder / 68 / 68 / 68 / 68
2002 / Pr-B / Mucopolysaccharidosis type VII / 65 / 75 / 70 / 69
2002 / Pr-F / Biotinidase deficiency* / 75 / 63 / 70 / 69
2004 / Ly-5 / Fucosidosis / 66 / 66 / 84 / 69
2003 / Pr-A / Lesch-Nyhan (HPRT deficiency) / 75 / 65 / 75 / 71
2005 / Ly-5 / 1α-mannosidosis / 73 / 73 / 64 / 71
2002 / Pr-E / 6Argininosuccinic aciduria / 73 / 70 / 73 / 72
2003 / Pr-C / "Normal" (on valproate therapy) / 83 / 78 / 45 / 73
2006 / Pr-F / Hypophosphatasia* / 67 / 78 / 78 / 73
2001 / Pr-A / 1α-mannosidosis / 79 / 74 / 69 / 74
2002 / Pr-A / 4Medium-chain acylCoA dehydrogenase def. / 68 / 85 / 70 / 74
2003 / Ly-2 / SC-HMAD(2-methyl-3OHbutyryl-CoA DH def) / 81 / 75 / 67 / 74
2005 / Pr-D / Mucopolysaccharidosis type II / 73 / 75 / 79 / 75
2003 / Pr-F / Sialidosis* / 72 / 75 / 89 / 77
2007 / Ly-3 / Hyperlysinaemia (α-aa semialdehyde synthase def.)* / 73 / 77 / 86 / 77
2004 / Pr-F / Mevalonic aciduria* / 80 / 80 / 70 / 78
2001 / Pr-C / 2Heterozygote for OTC deficiency / 79 / 79 / 79 / 79
2007 / Pr-C / 6Argininosuccinic aciduria / 76 / 79 / 82 / 79
2002 / Ly-4 / Mucopolysaccharidosis type I / 79 / 82 / 79 / 80
2006 / Pr-B / Normal sample (ketonuria) / 100 / 69 / 61 / 80
2006 / Ly-2 / Hyperoxaluria type I / 84 / 79 / 74 / 80
2007 / Pr-E / 2Heterozygote for OTC deficiency / 85 / 76 / 82 / 81
2004 / Ly-4 / Mevalonic aciduria* / 82 / 84 / 84 / 83
2006 / Ly-4 / Hypophosphatasia* / 84 / 84 / 79 / 83
2007 / Ly-6 / Short-chain acyl-CoA dehdyrogenase deficiency / 77 / 82 / 95 / 83
2006 / Ly-3 / 12Mucopolysaccharidosis type VI / 84 / 82 / 89 / 84
2007 / Pr-A / 12Mucopolysaccharidosis type VI / 85 / 85 / 82 / 84
2007 / Pr-F / Hyperlysinaemia (α-aa semialdehyde synthase def.)* / 74 / 88 / 94 / 85
2001 / Pr-B / 3-Hydroxy-3-methylglutaric aciduria / 93 / 93 / 74 / 87
2001 / Pr-G / Methylmalonic aciduria* / 86 / 86 / 88 / 87
2004 / Ly-6 / 8Alcaptonuria / 84 / 95 / 79 / 87
2006 / Ly-5 / Lysinuric protein intolerance / 76 / 95 / 95 / 87
2003 / Ly-3 / 6Argininosuccinic aciduria / 89 / 89 / 83 / 88
2001 / Pr-D / 3Cystinuria / 90 / 100 / 76 / 89
2005 / Pr-B / Lactic aciduria (mitochondrial disease) / 94 / 90 / 79 / 89
2002 / Pr-C / 5Tyrosinaemia type I / 85 / 100 / 85 / 90
2005 / Ly-1 / 7Isovaleric acidaemia / 75 / 100 / 100 / 90
2007 / Ly-1 / MAT deficiency (β-ketothiolase) / 95 / 82 / 85 / 90
2003 / Pr-D / Fumarase deficiency / 94 / 89 / 89 / 91
2006 / Pr-E / 2-Hydroxyglutaric aciduria / 94 / 89 / 89 / 91
2004 / Ly-1 / 5Tyrosinaemia type I / 87 / 95 / 86 / 92
2005 / Pr-A / Canavan / 92 / 92 / 92 / 92
2007 / Ly-2 / 9Homocystinuria (cystathionine synthase def.) / 95 / 93 / 82 / 92
2002 / Pr-D / Pyroglutamic aciduria / 95 / 95 / 90 / 93
2003 / Pr-B / Citrullinaemia / 95 / 95 / 85 / 93
2005 / Pr-F / Tyrosinaemia type II* / 83 / 100 / 100 / 93
2005 / Ly-6 / 4-hydroxybutyric aciduria / 91 / 95 / 91 / 93
2006 / Ly-6 / 4Medium-chain-acylCoA dehydrogenase def. / 87 / 95 / 100 / 93
2002 / Ly-1 / *3-hydroxy-long-chain acyl CoA dehydrogenase def. / 96 / 92 / 100 / 95
2003 / Ly-6 / Maple syrup urine disease / 87 / 100 / 100 / 95
2004 / Pr-C / 9Homocystinuria (cystathionine synthase def.) / 93 / 95 / 100 / 95
2005 / Ly-2 / Tyrosinaemia type II* / 93 / 100 / 95 / 96
2003 / Ly-1 / 5Tyrosinaemia type I / 94 / 100 / 94 / 97
2004 / Ly-2 / 10Propionic acidaemia / 92 / 100 / 100 / 97
2005 / Ly-4 / Multiple acylCoA dehydrogenase def. / 95 / 100 / 95 / 97
2003 / Pr-E / 7Isovaleric acidaemia / 100 / 100 / 89 / 98
2004 / Pr-D / Glutaric aciduria type I / 95 / 100 / 100 / 98
2005 / Pr-E / 10Propionic acidaemia / 98 / 100 / 96 / 98
2006 / Pr-C / 5Tyrosinaemia type I / 94 / 100 / 100 / 98
2007 / Ly-5 / Hyperphenylalaninemia / 98 / 100 / 95 / 98
2003 / Ly-4 / 3-methylcrotonyl-CoA carboxylase def / 100 / 100 / 95 / 99
2004 / Pr-A / 8Alcaptonuria / 100 / 100 / 95 / 99
2005 / Pr-C / Phenylketonuria / 100 / 100 / 96 / 99
2007 / Pr-B / 3Cystinuria / 100 / 100 / 100 / 100
* Common sample distributed by all DPT organisers: superscripts samples distributed on more than one occasion
Pr, Prague: Ly, Lyon.