Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series.
Roberto FranceschiRoberto FranceschiValeria Di NataleRanda Al-QaisiValentina GrecoRoberto BertorelliVeronica De SanctisAlessandro QuattroneVilma MantovaniVittoria CauvinStefano ZucchiniPublished in: Journal of personalized medicine (2022)
In our cohort, the availability of an NGS panel for MD was determined for the correct identification of MD subtypes in six patients with MODY-X. Our study underlines how a precise diagnosis utilizing NGS may have an impact on the management of different forms of MODY and, thus, lead to a tailored treatment and enable genetic counselling of other family members.