GTR Test Accession:
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GTR000603778.3
Last updated in GTR:
2024-04-24
View version history
GTR000603778.3,
last updated:
2024-04-24
GTR000603778.2,
last updated:
2023-03-31
GTR000603778.1,
registered in GTR:
2023-01-05
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (5):
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Analytes (2):
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Ceramide Trihexosides;
Sulfatides
Methods (1):
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Biochemical Genetics - Analyte: MALDI-TOF/TOF
Target population: Help
Identifying many patients with Fabry disease. Identifying patients with metachromatic …
Clinical validity:
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Not provided
Clinical utility:
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Screening test to identify patients with and support a diagnosis
Ordering Information
Offered by:
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Test short name:
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CTSU
Specimen Source:
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Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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LOINC codes:
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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/606147#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
Test strategy:
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https://www.mayocliniclabs.com/en/articles/resources/-/media/it-mmfiles/special%20instructions/3/f/b/lysosomal_storage_disorders_screen_interpretive_algorithm.pdf
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Conditions
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Total conditions: 5
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 2
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
MALDI-TOF/TOF
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
Clinical utility:
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Screening test to identify patients with and support a diagnosis
View citations (1)
- Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K. Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. Mol Genet Metab. 2020;129(2):106-110. doi:10.1016/j.ymgme.2019.10.009. Epub 2019 Nov 05. PMID: 31753749.
Target population:
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Identifying many patients with Fabry disease.
Identifying patients with metachromatic leukodystrophy.
Identifying patients with saposin B deficiency.
Identifying patients with multiple sulfatase deficiency.
Identifying patients with mucolipidosis II (I-cell disease).
View citations (1)
- Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K. Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. Mol Genet Metab. 2020;129(2):106-110. doi:10.1016/j.ymgme.2019.10.009. Epub 2019 Nov 05. PMID: 31753749.
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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Ceramide trihexosides and sulfatides are determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis. Urine specimens are centrifuged and all but 50 mcL of supernatant is discarded from the pellet. Methanol including internal standards is added, and then ceramide trihexosides and sulfatides are extracted in chloroform. After centrifugation, …
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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 with 3 different samples, there was 100% concordance between replicates (N=3 each). Inter assay precision was performed with 3 different samples, there was 100% concordance between replicates (N=3 each).
Assay limitations:
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Specific enzymatic or molecular assays should be used to confirm positive results.
In some instances a normal excretion of ceramide trihexosides may be seen in individuals who are carriers of or affected with Fabry disease. If Fabry disease is clinically suspected, see Fabry Disease Testing Algorithm for additional testing recommendations.
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:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.