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Lysosomal Enzyme Screen

Leukocyte Lysosomal Antibody

Test Codes

Testing requires pathology approval prior to collection.

Department

Send Outs

Instructions

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 Send Outs 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 Send Outs (XMISC).
• If approved, due to specimen stability, this test can only be collected before 12:00 pm, 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/Draw 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). (Minimum: 2.0 mL)

Rejection Criteria

• 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 Send Outs Laboratory in time for same-day shipping may be cancelled due to stability issues.

In-Lab Processing

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: 8 mL whole blood, at room temperature (20-26°C or 68-78.8°F). (Minimum: 2.0 mL) 

Storage

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 Send Outs Laboratory with any questions.

Laboratory

Sent to Thomas Jefferson Medical College, Philadelphia, PA.

Performed

Varies.
Results available 3-8 days.

Reference Range

By report.

Test Methodology

Spectrophotometric Assay, Fluorometric, Lipid Extraction.

Interpretation

By report.

Clinical Utility

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:

GM1 gangliosidoses GM2 gangliosidoses Fucosidosis α-Mannosidosis ß-Mannosidosis Mucopolysaccharidosis VII Metachromatic leukodystrophy Krabbe disease Niemann-Pick Types A & B Multiple sulfatase deficiency Gaucher disease

Hurler-Scheie syndromes Fabry disease Maroteaux-Lamy syndrome Sialidosis and Galactosialidosis Sialuria 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)

CPT Codes

82657, 82658.

Contacts

Last Updated

4/10/2021