Lysosomal (Six) Panel, WBC
GTR Test Accession: Help GTR000603788.2
Last updated in GTR: 2024-04-25
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Fabry disease; Acid sphingomyelinase deficiency; Gaucher disease; ...
Alpha-galactosidase; acid alpha-glucosidase; acid sphingomyelinase (ASM); alpha-L-iduronidase (IDUA); beta-glucosidase; ...
Biochemical Genetics - Enzyme assay: Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
Diagnosis of the lysosomal storage disorders: Fabry (in male patients), …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Recommended fields not provided:
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 6
Analyte Associated Condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
Enzyme assay
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
Diagnosis of the lysosomal storage disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe (glycogen storage disorder type II). This test is not intended for carrier detection.
View citations (4)
  • Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015;39(3):206-16. doi:10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. PMID: 25891428.
  • Elliott S, Buroker N, Cournoyer JJ, Potier AM, Trometer JD, Elbin C, Schermer MJ, Kantola J, Boyce A, Turecek F, Gelb MH, Scott CR. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. Mol Genet Metab. 2016;118(4):304-9. doi:10.1016/j.ymgme.2016.05.015. Epub 2016 May 20. PMID: 27238910.
  • Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. Clin Chem. 2017;63(4):842-851. doi:10.1373/clinchem.2016.259036. Epub 2017 Feb 14. PMID: 28196920.
  • Liao HC, Spacil Z, Ghomashchi F, Escolar ML, Kurtzberg J, Orsini JJ, Turecek F, Scott CR, Gelb MH. Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. Clin Chem. 2017;63(8):1363-1369. doi:10.1373/clinchem.2016.264952. Epub 2017 Jun 07. PMID: 28592445.
Recommended fields not provided:
Technical Information
Test Procedure: Help
The specimens are incubated with a mix of substrate and internal standard for acid sphingomyelinase, beta-glucocerebrosidase, acid alpha-glucosidase, alpha-galactosidase, galactocerebrosidase, and alpha-L-iduronidase. The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(Unpublished Mayo method)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed by analysis of positive and negative specimens; all samples were clinically concordant. Intra assay precision was performed at 3 levels: CV results ranged from 2%-10% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 5%-8% (N=20 each). The analytical measurement range is … View more
Assay limitations: Help
Individuals with pseudodeficiency alleles can show reduced enzyme activity with this assay. Carrier status (heterozygosity) for these conditions cannot be reliably detected. Enzyme levels may be normal in individuals receiving enzyme replacement therapy or who have undergone hematopoietic stem cell transplant.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

Description of PT method: Help
Intra-laboratory alternative assessment of performance through quality control or patient blind testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
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Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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