Lysosomal Disorders, Six-Enzyme Panel, Leukocytes
Use
This test is used for the diagnosis of lysosomal disorders such as Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe disease (glycogen storage disorder type II). It is particularly useful for screening individuals with positive newborn screen results or clinical signs indicative of these conditions. An enzyme deficiency detected by this panel requires further biochemical or molecular testing to confirm a diagnosis.
Special Instructions
Not provided.
Limitations
Values below the reference ranges are consistent with a diagnosis of lysosomal disorders. Careful interpretation is required as individuals with pseudodeficiency alleles can show reduced enzyme activity with this assay. Carrier status cannot be reliably detected. Enzyme levels may be normal in individuals receiving enzyme replacement therapy or those who have undergone hematopoietic stem cell transplant.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94489-2 - LSD pnl WBC
- 32540-7 - Glucosylceramidase WBC-cCnt
- 24101-8 - Acid sphingomyelinase WBC-cCnt
- 24051-5 - Acid A-Glucosidase WBC-cCnt
- 94488-4 - Acid A-Glucosidase WBC Cfm-cCnt
- 24084-6 - GALC WBC-cCnt
- 94487-6 - GALC WBC Cfm-cCnt
- 24057-2 - A-L-Iduronidase WBC-cCnt
- 24049-9 - A-Galactosidase A WBC-cCnt
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
2-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
4 mL
Container
Yellow top (ACD solution B preferred, ACD solution A or lavender top (EDTA) acceptable)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
Specimen should arrive refrigerated within 6 days. Ambient temperature is acceptable for 6 days.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |