Lysosomal Enzyme Screen
Leukocyte Lysosomal Antibody, Testing requires pathology approval prior to collection.
This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.
- This test requires pathology review. Contact the Sendout Laboratory at 248-551-9045 before ordering this test.
- Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
- Specimens received without the appropriate forms and information will not be shipped.
- Once approved, order test as a Miscellaneous Sendout (XMISC).
- If approved, due to specimen stability, this test can only be collected before 12:00 p.m., Monday - Thursday.
Specimen Collection Criteria
Collect: Two Dark Green-top Lithium or Sodium Heparin tubes, after obtaining necessary pathology approval.
The specimen must be received in the referral laboratory within 24 hours of collection. Send specimen to the Laboratory immediately after collection for processing.
Physician Office/Drawsite Specimen Preparation
Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport.
Preparation for Courier Transport
Transport: 8 mL whole blood, at room temperature (20-26°C or 68-78.8°F). (Min: 2.0 mL)
- Specimens not collected and processed as indicated.
- Specimens must be shipped to the referral laboratory on the same day as collection. Specimens not received in the Sendout Laboratory in time for same-day shipping may be cancelled due to stability issues.
Specimen Stability for Testing:
Room Temperature (20-26°C or 68-78.8°F): 24 hours
Refrigerated (2-8°C or 36-46°F): Unacceptable
Frozen (-20°C/-4°F or below): Unacceptable
Specimen Storage in Department Prior to Disposal:
Specimen retention time is determined by the policy of the reference laboratory. Contact the Sendout Laboratory with any questions.
Sent to Thomas Jefferson Medical College, Philadelphia, PA.
Results available 3-8 days.
Spectrophotometric Assay, Fluorometric, Lipid Extraction.
Lysosomal enzyme screens for patient diagnosis, carrier identification and prenatal diagnosis of some mucopolysaccharidoses, lipidoses and mucolipidoses are carried out as indicated by the clinical or family history provided by the attending physician and /or genetic counselor.
DISEASES TESTED FOR:
Niemann-Pick Types A & B
Multiple sulfatase deficiency
Sialidosis and Galactosialidosis
Sialic Acid Storage Disease and Salla Disease
Mucolipidoses II & III
Sanfilippo Type B
Niemann-Pick Type C (requires loading studies)
Wolman disease (chol. ester storage disease)
Farber disease (requires loading studies)
Testing requires pathology approval prior to collection.
Microtainer® and Vacutainer® are registered trademarks of Becton, Dickinson and Company.
UroVysion® is a registered trademark of Abbott Laboratories. ThinPrep® is a registered trademark of Hologic, Incorporated.
This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills,
Grosse Pointe, Royal Oak, and Troy campuses.