Test Catalog

Lysosomal Storage Disorders

Comprehensive Test Menu

March 2014

Mayo Clinic Laboratories offers a wide variety of biochemical and molecular assays that aid in the screening, diagnosis, and monitoring of lysosomal storage disorders. Benefits of partnering with Mayo Clinic for this important testing include:

  • Access to experienced clinicians familiar with these disorders
  • Validation of molecular testing on blood spot eliminating the need for a second blood draw when confirmation is indicated
  • Availability of genetic counselor support to aid in testing options, result interpretation, and case review and coordination

Lysosomal Storage Disorder Testing

Condition Enzymes Molecular
Blood Spot Blood Serum Fibroblast
Alpha-mannosidosis X X
Beta-mannosidosis X X
Fabry disease X X X X*
Fucosidosis (Alpha-fucosidosis) X X
Galactosialidosis X X X
Gaucher disease X X X X*
GM1 gangliosidosis X X X
Hunter syndrome (MPS II) X X X*
Hurler/Scheie syndrome (MPS I) X X X X*
I-Cell disease (mucolipidosis type II) X X
Krabbe disease X X X X*
Lysosomal Storage Disorders Screen (Gaucher, Fabry, Krabbe, MPS I, Niemann-Pick A/B) X
Maroteaux-Lamy syndrome (MPS VI) X X*
Metachromatic Leukodystrophy (MLD) X X X*
Morquio A syndrome (MPS IVA) X X
Morquio B syndrome (MPS IVB) X X X
Niemann-Pick Type A/B X X*
Niemann-Pick Type C X X
Oligosaccharidoses Screen (Alpha-mannosidosis, Beta-mannosidosis, Fucosidosis, Schindler disease, GM1 gangliosidosis, Morquio B, Sialidosis, Galactosialidosis, I-cell disease, Pseudo-Hurler Polydystrophy) X X
Pompe disease X X*
Pseudo Hurler Polydystrophy (mucolipidosis III) X X
Sanfilippo syndrome, type B (MPS IIIB) X X X*
Sandhoff disease X X
Schindler disease X X
Sialidosis (mucolipidosis I) X
Sly syndrome (MPS VII) X
Tay-Sachs disease X X X

* offered on Blood Spot