Identifying disease states related to biochemical / metabolic defect of lysosomal enzymes, e.g., sphigolipidoses, Krabbe disease, Fabry disease, etc.
Interpretive report provided.
10 - 14 days
- LYSOSOMAL ENZYMES
Specimens are accepted Monday through Thursday only and must be received by performing laboratory within 24 hours of collection (specimen must be received by MLabs by 6:00 pm). Collect blood in sodium heparin (green top) tubes; do not use tubes containing lithium heparin. DO NOT CENTRIFUGE. Store whole blood at room temperature; refrigerated or frozen specimens are unacceptable. A complete clinical history of the patient is required before the reference laboratory will process the specimen.
Specimens are shipped via Federal Express to the Lysosomal Diseases Testing Laboratory (LDTL) at Thomas Jefferson University Hospital in Philadelphia, Pennsylvania. A complete clinical history is required before the specimens will be processed by laboratory. Please include these histories with the specimens. Samples can only be shipped Monday through Thursday and cannot be accepted on any other days of the week.