Lysosomal Enzyme Screen




Test Mnemonic

LYSOSM

CPT Codes

  • 82657 - QTY (1)
  • 82658 - QTY (1)

Includes

  • alpha-Galactosidase
  • Sialidase
  • Arylsulfatase B
  • alpha-Glucosaminidase
  • beta-hexosaminidase (Total & %A)
  • If indicated:
  • beta-Galactosidase
  • beta-Mannosidase
  • alpha-L-fucosidase
  • alpha-Mannosidase
  • beta-Glucuronidase
  • beta-hexosaminidase A
  • Galactocerebrosidase
  • Sphingomyelinase
  • Glucocerebrosidase
  • alpha-L-iduronidase
  • Arylsulfatase A

Performing Laboratory

Jefferson Medical College


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
8 mLWhole bloodSodium or Lithium heparin (Green) AmbientDraw Monday - Wednesday only. Specimen must be received in Cleveland Clinic Laboratories before 3 p.m. on the day of collection. Clinical and/or family history MUST accompany the specimen.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
2 mL     

Stability

Environmental Condition Description
Ambient24 hours
RefrigeratedUnacceptable
FrozenUnacceptable

Days Performed

Thu

Turnaround Time

8 - 10 days

Methodology

Name Description
Spectrophotometry (S) 
Radioimmunoassay (RIA) 

Special Info

Draw Monday - Thursday only. Specimen must be received in the Send Out Laboratory before 3 p.m. Clinical and/or family history must accompany the specimen.

Clinical Info

Diagnosis of: GM1 and GM2 gangliosidoses, Fucosidosis, alpha and beta Mannosidosis, Mucopolysaccharidosis VII, Metachromatic leukodystrophy, Krabbe disease, Niemann-Pick Types A & B, Multiple sulfatase deficiency, Gaucher Disease, Hurler-Schele syndromes, Fabry disease, Maroteaux-Lamy syndrome, Sialidosis and Galactosialidosis, Sialuria & Sialic Acid Storage Disease, Mucolipidoses II & III, Sanfilippo Type B, Niemann-Pick Type C (requires loading studies), and Farber disease (requires loading studies).