GTR Test Accession:
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GTR000603788.2
Last updated in GTR:
2024-04-25
View version history
GTR000603788.2,
last updated:
2024-04-25
GTR000603788.1,
registered in GTR:
2023-01-09
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis
Conditions (6):
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Analytes (5):
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acid alpha-glucosidase;
acid sphingomyelinase (ASM);
alpha-L-iduronidase (IDUA);
beta-glucosidase;
galactocerebrosidase (GALC)
Methods (1):
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Biochemical Genetics - Enzyme assay: Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
Target population: Help
Diagnosis of the lysosomal storage disorders: Fabry (in male patients), …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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LSD6W
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Lab contact:
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Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy:
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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:
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https://www.mayocliniclabs.com/test-catalog/overview/606171#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 6
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 5
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Enzyme assay
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Target population:
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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:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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 …
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Assay limitations:
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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?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
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.
Yes
Method used for proficiency testing: Help
Intra-Laboratory
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.
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Citations to support internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
IMPORTANT NOTE:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.