GTR Test Accession:
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GTR000597435.1
Last updated in GTR: 2022-04-12
View version history
GTR000597435.1, last updated: 2022-04-12
Last annual review date for the lab: 2023-05-30
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At a Glance
Test purpose:
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Diagnosis;
Monitoring
Conditions (1):
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Glycogen storage disease, type II
Analytes (1):
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Glucotetrasaccharides
Methods (1):
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Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Guidance for management
Ordering Information
Offered by:
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Test short name:
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HEX4
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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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/Specimen/64174
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: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 1
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring
Clinical utility:
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Establish or confirm diagnosis
Guidance for management
View citations (2)
- Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet. 2012;160C(1):50-8. doi:10.1002/ajmg.c.31320. Epub 2012 Jan 17. PMID: 22252961.
- Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. JIMD Rep. 2015;19:67-73. doi:10.1007/8904_2014_366. Epub 2015 Feb 15. PMID: 25681082.
Guidance for management
View citations (2)
- Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet. 2012;160C(1):50-8. doi:10.1002/ajmg.c.31320. Epub 2012 Jan 17. PMID: 22252961.
- Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. JIMD Rep. 2015;19:67-73. doi:10.1007/8904_2014_366. Epub 2015 Feb 15. PMID: 25681082.
Target population:
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Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene.
Monitoring Pompe patients on enzyme replacement therapy.
View citations (2)
- Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet. 2012;160C(1):50-8. doi:10.1002/ajmg.c.31320. Epub 2012 Jan 17. PMID: 22252961.
- Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. JIMD Rep. 2015;19:67-73. doi:10.1007/8904_2014_366. Epub 2015 Feb 15. PMID: 25681082.
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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A random urine sample is corrected per creatinine content. The creatinine-corrected urine is combined with ammonium hydroxide and internal standard in a 96-well filter plate. After centrifugation, an aliquot of the eluate is injected onto an amide column and analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) in negative mode. The …
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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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Recovery was used to assess accuracy; mean recovery was 112%. Intra assay precision was performed at 4 levels: CV results ranged from 9.4%-19.8% (N=20 each). Inter assay precision was performed at 4 levels: CV results ranged from 11.3%-17.1% (N=20 each). The analytical measurement range is 0.10 – 200 µmol/L.
Assay limitations:
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Elevated glucotetrasaccharide (Glc4) result may be due to dietary artifacts particularly ingestion of carbohydrates.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Description of PT method: Help
Inter-laboratory comparison with outside laboratory(s)
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
Inter-Laboratory
Description of PT method: Help
Inter-laboratory comparison with outside laboratory(s)
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:
Consumer resources:
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.