Diagnostic Services for Gangliosidoses

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


Available enzymatic and biomarker tests:

Disease Enzyme
GM1-gangliosidosis ß-D-Galactosidase
GM2-gangliosidosis ß-Hexosaminidase A; total
ß-Hexosaminidase (A+B)

Available genetic tests:

Disease Gene
GLB1, MPS4B GM1-gangliosidosis, type I
GLB1, MPS4B GM1-gangliosidosis, type II
GLB1, MPS4B GM1-gangliosidosis, type III
GLB1, MPS4B Mucopolysaccharidosis type IVB (Morquio)
HEXB Sandhoff disease, infantile, juvenile, and adult forms
GM2A GM2-gangliosidosis, AB variant
HEXA, TSD GM2-gangliosidosis, several forms
HEXA, TSD Tay-Sachs disease
HEXA, TSD [Hex A pseudodeficiency]
MCOLN1, ML4 Mucolipidosis IV