Lysosomal Disorders, Six-Enzyme Panel, Leukocytes

Casandra

Casandra Test Code MC11993Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID LSD6WCPT Codes 82542, 82657, 82963, 83789

Lysosomal Disorders, Six-Enzyme Panel, Leukocytes

Clinical Use

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

For optimal isolation of leukocytes, it is recommended that the specimen arrives refrigerated within 6 days of collection. Collect specimens Monday through Thursday only, and not the day before a holiday. Specimens should be collected and packaged as close to shipping time as possible. This test is not intended for carrier detection.

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.

Test Details

New York Approved