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Sensitivity of transferrin isoform analysis for PMM2-CDG
Patrica L Hall1, Kris Liedke1, Coleman Turgeon1
1Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America.
Molecular Genetics and Metabolism
|August 31, 2024
Summary
Transferrin isoform analysis shows 94% sensitivity for PMM2-CDG, a common congenital disorder of glycosylation. However, certain variants can lead to false positives, indicating a key limitation of this diagnostic test.
Area of Science:
- Biochemistry
- Clinical Diagnostics
- Genetics
Background:
- Transferrin isoform analysis is a standard laboratory method for diagnosing congenital disorders of glycosylation (CDG).
- Limited data exist on the empirical sensitivity of this test for specific CDG types.
- PMM2-CDG is the most prevalent form of CDG.
Purpose of the Study:
- To evaluate the sensitivity of transferrin isoform analysis for PMM2-CDG.
- To identify potential limitations of transferrin testing in CDG diagnosis.
- To assess the test's utility for PMM2 genotypes of unknown significance.
Main Methods:
- Retrospective analysis of ten years of transferrin testing data.
- Focus on transferrin testing for type I profiles.
- Evaluation of test sensitivity specifically for PMM2-CDG.
Main Results:
- The study achieved 94% overall test sensitivity for PMM2-CDG.
- Two recurrent variants were identified as being enriched in false-positive cases.
- This highlights a significant limitation of transferrin isoform analysis.
Conclusions:
- Transferrin isotype analysis is clinically valid as a screening tool for protein N-linked glycosylation disorders.
- The test serves as a functional assay for PMM2 genotypes with uncertain significance.
- Awareness of specific variants causing false positives is crucial for accurate diagnosis.
