Table 2.

Molecular assays for FD newborn screening.

Molecular Assay	Pros	Cons
High resolution melting	Cover the 7 exons and the IVS4 variant	Low sensitivity for variants located at exons 2 and 6 Sensitivity to variable concentrations of nucleic acid or salts Need of experience for periodic parameters adjustment Not reliable for males
Agena iPlex	Not stringent DNA quality control Easy, simple training Less than one day	Only known pathogenic variants