Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Petra DusatkovaMarketa PavlikovaLenka ElblovaVladyslav LarionovKlara VeselaKaterina KolarovaZdenek SumnikJan LeblStepanka PruhovaPublished in: Acta diabetologica (2022)
The two-step approach represented a better strategy for genetic investigation of MODY concerning time and costs compared to direct tNGS. Although a single-gene investigation clarified the diabetes aetiology in the majority of cases, tNGS could reveal rare causes of MODY and expose possible limitations of both standard genetic techniques and clinical evaluation.