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Leukocyte Lysosomal Enzyme Screen, Blood

Important Note

COLLECT MONDAY-THURSDAY between 1100-1630 ONLY.

DO NOT COLLECT ANYTIME FRIDAY-SUNDAY OR DAY OF/BEFORE A HOLIDAY

Performing Laboratory

St. Louis Children's Hospital Sendout to Lysosomal Disease Testing Laboratory at Jefferson Medical College

Specimen Requirements

Specimen Type: Blood

Patient Preparation: None

Container/Tube     

COLLECT MONDAY-THURSDAY between 1100-1630 ONLY.

DO NOT COLLECT ANYTIME FRIDAY-SUNDAY OR DAY OF/BEFORE A HOLIDAY

  

Preferred:  DARK green-top (NaHep) Vacutainer®.

Acceptable: Lavender-top (EDTA) Vacutainer®
Collection Volume: 4.0-6.0 mL (minimum 2.0 mL)

Special Instructions: 

  1. Immediately invert tube gently 8-10 times after collection to ensure proper mixing of blood and anticoagulant (this will avoid specimen clotting). Tube should be kept at room temperature.
  2. Send a completed "Lysosomal Disease Testing Laboratory Patient History" form with specimen. Clinical and/or family history MUST accompany the sample.

Sample Rejection

Clotted specimens.

Specimens collected in gel tubes.

Specimens collected anytime Friday-Sunday, day of/before a holiday or after 1630 on Thursday.

Mislabeled or unlabeled specimens.

Logistics

Test Availability:  Monday-Thursday only

Cut-off time: None

Days set up by performing lab: Monday-Thursday

Turnaround Time: 1-2 weeks

Reference Values

Reference Interval: Interpretive report will be provided

Critical Value: None established

Methodology

NA

Limitations

NA

Additional Information

FOR SLCH CORE LABORATORY USE ONLY

Lab Processing Instructions: DO NOT PROCESS. Give sample in original tube to sendouts, keeping sample at ambient temperature.

Transport Temperature: Ambient
Analyte Stability: 

Ambient: 24 hours

Refrigerated: unacceptable

Frozen: DO NOT freeze

Note: 

  1. Send a completed "Lysosomal Disease Testing Laboratory Patient History" form AND cover letter with specimen. Cover letter must include patient information (full name; DOB; identification numbers (MR# and Lab accession#)), requesting physician information (name; address; phone/fax numbers) and referring hospital information.
  2. Ship specimens Monday-Thursday only. Call lab at 215-955-1666 with any questions.
  3. Ship specimen in a well insulated container to keep from getting too hot or too cold.
  4. Ship specimen Monday-Thursday ONLY to: Lysosomal Diseases Testing Laboratory, Thomas Jefferson University, Dept. of Neurology, 1020 Locust St., Rm 346, Philadelphia, PA 19107

Test Classification and CPT Code

Misc Ref SLC

82657 & 82658

LOINC

NA

Last Reviewed

08/2025