Continuing with its vocation for innovation and expanding its diagnostic offer of rare diseases, the Cerba laboratory now proposes a range of tests for the diagnosis of lysosomal storage diseases.
Now, several assays of enzyme activity by advanced technique, liquid chromatography with tandem mass spectrometry are available.
The diagnosis of Fabry, Gaucher, Krabbe, Hurler, Pompe, Niemann-Pick A / B diseases as well as the measurment of Alpha-Fucosidase, Alpha-Mannosidase, Hexosaminidase A and Total hexosaminidases require 5 spots of dried blood of 5 mm minimum on blotting paper (heparinized whole blood deposited with a pipette after homogenization)
The DBS is stable for 5 days at room temperature and 1 month if sent frozen (- 20 ° C).
For more details, we invite you to check the special conditions on the online exam catalog on MyCerba