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. 2023 Oct 9;61(2):181–188. doi: 10.1007/s00592-023-02193-x

Table 1.

Studies reporting on genetic testing yield with use of the Exeter MODY probability calculator (EMPC)

Study Country Participants Monogenic diabetes type(s) assessed Outcome
Thomas [19] UK 36 adult probands (four non-White Europeans) referred for monogenic diabetes testing MODY and mitochondrial DM 20% EMPC cutoff → 50% PPV
Ang [20] Singapore 71 multiethnic Asian adults (59 Chinese, 14 Malay and 11 Indian) preselected on features, ( e.g., pancreatic autoantibody status) to exclude obvious T1DM and T2DM MODY, monogenic insulin resistance and lipodystrophy 62% EMPC cutoff → 30% PPV
Haliloglu [21] Turkey 54 Turkish children preselected by criteria including pancreatic autoantibody status MODY 75% EMPC cutoff + additional features, e.g. HbA1c → 57% PPV
Davis [7] Australia 25 Australians of mixed ethnicities recruited by various means, e.g., advertising MODY, NDM 25% EMPC cutoff → 28% PPV
Tarantino [22] Brazil 34 Brazilian probands with previous clinical diagnosis of monogenic diabetes GCK-MODY and HNF1A-MODY 50% EMPC cutoff → 48% PPV; 75% EMPC cutoff → 53% PPV
Lee [23] Korea 40 Korean probands preselected by criteria including pancreatic autoantibody status MODY, NDM and lipodystrophy 50% EMPC cutoff → 15% PPV
Da Silva Santos [24] Portugal 73 Portuguese probands preselected by criteria including pancreatic autoantibody status All monogenic diabetes 25% EMPC cutoff → 65% PPV; newly derived 36% EMPC cutoff → 74% PPV

PPV positive predictive value (i.e. mutation detection rate), T1DM type 1 diabetes mellitus and T2DM type 2 diabetes mellitus