Improving the identification of mody mutations by using mlpa technique in the molecular diagnostics routine

Maturity-onset diabetes of the young (MODY) represents about 3-5% of cases of diabetes mellitus (DM). Searching for mutations can be performed either by Sanger sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA) technique. MLPA is a powerful molecular tool that identifies large genetic rearrangements such as deletions and insertions, even though these kinds of mutations seem to be rare in the majority of MODY subtypes. To assess the role of the MLPA technique in the genetic screening of GCK-MODY (MODY2), HNF1A-MODY (MODY3) and HNF1B-MODY (MODY5) in cases negative for point mutation using Sanger sequencing.