A Complete diagnostic program
From enzymatic to biomarker testing including genetic testing from the same Dried Blood Spot.

Available enzymatic and biomarker tests:

Disease Enzyme Biomarker
Fabry α-Galactosidase A Lyso-GL-3 (Lyso-Gb3)
Pompe α-1,4-Glucosidase
Krabbe Galactosylceramidase Psychosine
Gaucher Acid ß-Glucosidase Lyso-GL-1
Niemann-Pick type A/B Acid sphingomyelinase Lyso-SPM
Mucopolysaccharidoses
I L-Iduronidase,
II Iduronate-2-sulfatase,
IIIB N-α-Acetylglucosaminidase,
IVA N-Acetylgalactosamine-6-sulfate-sulfatase,
IVB ß-D-Galactosidase,
VI Arylsulfatase B,
VII ß-Glucuronidase
GM1-gangliosidosis ß-D-Galactosidase
GM2-gangliosidosis ß-Hexosaminidase A; total
ß-Hexosaminidase (A+B)
Neuronal Ceroid Lipofuscinosis 1 Palmitoyl protein thioesterase
Neuronal Ceroid Lipofuscinosis 2 Tripeptidyl peptidase I
Wolman, LALD Lysosomal acid lipase

Available genetic tests:

Disease Gene
Fabry GLA
Pompe GAA
Krabbe GALC
Gaucher GBA
Niemann-Pick type A/B SMPD1
Gaucher and related disorders SMPD1, NPC1, NPC2, PSAP
Mucopolysaccharidoses IDUA, IDS, SGSH, NAGLU, HGSNA, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1
Mucolipidoses NEU1, GNPTAB, GNPTAG, GNPTG, MCOLN1
Neuronal Ceroid Lipofuscinosis PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CLN9, CTSD, GRN, ATP13A2, CTSF, KCTD7
Glycogen storage GYS1, GYS2, G6PC, SLC37A4, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKG2, PHKB, PGAM2, SLC2A2, LDHA, ALDOA, ENO3, GYG1, PRKAG2
Mannosidase Deficiency MAN2B1, MANBA, MANBAL
GM1-gangliosidosis Type I, II and III
GM2-gangliosidosis Tay-Sachs, Sandhoff, GM2-gangliodosis AB variant
Metachromic leukodystrophy ARSA
Alexander GFAP
Fucosidosis FUCA1
Farber lipogranulomatosis ASAH1
Cystinosis CTNS
Galactosialidosis CTSA
Danon disease (GSD type IIB) LAMP2
Wolman LIPA
Schindler NAGA
Sialic Acid Storage SLC17A5
Multiple Sulfatase Deficiency SUMF1