Ordering Recommendation

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Lavender (K2 or K3 EDTA). Also acceptable Green (Sodium or Lithium Heparin). Collect Monday-Thursday only.

Specimen Preparation

Do not send to ARUP Laboratories. For direct submission instructions please contact ARUP Referral Testing at (800) 242-2787, ext. 5145. Transport 6 mL whole blood. (Min: 2 mL) Specimen must be received at performing laboratory within 24 hours of collection
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.

Storage/Transport Temperature

Room temperature.

Unacceptable Conditions

Patient history form is required.


Ambient: 24 hours; Refrigerated: Unacceptable; Frozen: Unacceptable


Enzymatic Assay




12-15 days

Reference Interval

By report

Interpretive Data

Compliance Category

Performed by non-ARUP Laboratory


Hotline History


CPT Codes

82657; 82658


Component Test Code* Component Chart Name LOINC
0099601 Leukocyte Lysosomal Enzyme Screen 48311-5
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Fabry disease
  • Fucosidosis
  • Galactosialidosis
  • Gaucher disease
  • GM1 gangliosidoses (MPS IVB)
  • GM2 gangliosidoses (all types)
  • Krabbe disease
  • Lysosomal Enzyme Panel (Leukocyte Lysosomal Enzyme)
  • Lysosomal Storage Disease Enzyme Analysis (Leukocyte Lysosomal Enzyme)
  • Niemann-Pick Types A & B
  • Pompe disease
  • Sialidosis (Mucolipidosis I)
  • Sialuria
  • Wolman disease
Leukocyte Lysosomal Enzyme Screen

Jefferson Medical College Lab