A complete diagnostic program
From enzymatic to genetic testing from the same Dried Blood Spot.

Available enzymatic tests:

Disease Enzyme
MPS I L-Iduronidase,
MPS II Iduronate-2-sulfatase,
MPS IIIB N-α-Acetylglucosaminidase,
MPS IVA N-Acetylgalactosamine-6-sulfate-sulfatase,
MPS IVB ß-D-Galactosidase,
MPS VI Arylsulfatase B,
MPS VII ß-Glucuronidase

Available genetic tests:

Disease Gene
Mucopolysaccharidoses IDUA, IDS, SGSH, NAGLU, HGSNA, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1
Mucolipidoses NEU1, GNPTAB, GNPTAG, GNPTG, MCOLN1