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HelpTest Code 9619 Lysosomal Enzyme Analysis, Leukocytes
Performing Laboratory
Jefferson Medical College
Methodology
This test detects a number of enzyme defects including:
|
Alpha-Mannosidosis |
Metachromatic Leukodystrophy |
| Beta-Mannosidosis | Mucolipidoses II & III |
| Fabry’s Disease | Mucopolysaccharidosis VII |
|
Fucosidosis |
Multiple Sulfatase Deficiency |
|
Gaucher’s Disease |
Niemann-Pick Type C (Requires Loading Studies) |
| GM1 Gangliosidoses | Niemann-Pick Types A & B |
| GM2 Gangliosidoses | Sanfilippo Type B |
| Hurler-Scheie Syndrome | Sialuria |
|
Krabbe’s Disease |
Sialidosis and Galactosialidosis |
|
Maroteaux-Lamy Syndrome |
Wölman Disease (Cholesterol Ester Storage Disease) |
Specimen Requirements
Call Laboratory Medicine resident at digital pager 314-747-1320 for approval before drawing the specimen.
Send specimen Monday through Thursday only. Specimen must arrive before 1400.
Specimen Type: Whole blood
Container/Tube: 2- Dark-green top
Specimen Volume: Collect 2 Full tubes
Specimen Minimum Volume: 2 mL
Additional Information: Include clinical summary.
Day(s) Test Set Up
Monday through Friday
Turnaround Time:
STAT: not available
Routine: 1 to 2 weeks
Test Classification and CPT Coding
82657-Enzymatic activity not specified, nonradioactive substrate
82658-Enzymatic activity not specified, radioactive substrate
Reference Values
An interpretive report will be provided.
Specimen Transport Temperature
Ambient/Refrigerate NO/Frozen NO
Additional Information
For BJH Laboratory Use Only
Analyte Stability:
Must be received by testing laboratory within 24 hours of draw.
Laboratory Processing Instructions:
Call Laboratory Medicine resident at digital pager 314-747-1320 for
approval before drawing the specimen.
BJH Core Laboratory will forward to the performing laboratory. Do not centrifuge. Send whole blood at ambient temperature Monday through Thursday only.
Include patient clinical history with specimen. Send to Jefferson Medical College, Lysosomal Diseases Testing Laboratory, Philadelphia, PA. Must be received by testing laboratory within 24 hours of draw.