CDG, S
GTR Test Accession: Help GTR000597441.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2023-03-31
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Screening
Congenital disorder of glycosylation
A-oligo/Di-oligo Ratio; Apo CIII-0/Apo CIII-2 Ratio; Apo CIII-1/Apo CIII-2 Ratio; Mono-oligo/Di-oligo Ratio; Tri-sialo/Di-oligo Ratio
Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
Screening for congenital disorders of glycosylation
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
CDG
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
biochemicalgenetics@mayo.edu
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/Specimen/89891
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://www.mayocliniclabs.com/en/articles/resources/-/media/it-mmfiles/special%20instructions/8/3/3/congenital-disorders-of-glycosylation-algorithm.pdf
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 5
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Congenital disorders of glycosylation. Chang IJ, et al. Ann Transl Med. 2018;6(24):477. doi:10.21037/atm.2018.10.45. PMID: 30740408.

Target population: Help
Screening for congenital disorders of glycosylation
View citations (1)
  • Congenital disorders of glycosylation. Chang IJ, et al. Ann Transl Med. 2018;6(24):477. doi:10.21037/atm.2018.10.45. PMID: 30740408.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Samples are prepared by diluting serum in water. The sample is injected into an immunoaffinity column and washed. Following 2 wash steps, proteins are then eluted and introduced into an API 4000 tandem mass spectrometer equipped with a Turbo V source configured for electrospray ionization. The mass spectrometer is operated … View more
View citations (1)
  • Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Lacey JM, et al. Clin Chem. 2001;47(3):513-8. PMID: 11238305.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed by analysis of normal specimens and affected CDG patients; all samples were clinically concordant. Intra assay precision was performed with 2 different samples: CV results ranged from 2%-22% (N=10 each). Inter assay precision was performed with 2 different samples: CV results ranged from 1%-48% where higher CVs … View more
Assay limitations: Help
Other conditions such as acute crisis of hereditary fructose intolerance, galactosemia, substance abuse, and acute liver disease may have a congenital disorders of glycosylation (CDG) profile that is indistinguishable from any other true CDG type I cases. Relevant clinical information and the indication for the analysis should be provided with … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS

Description of PT method: Help
Formal PT program

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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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