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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large

Melanie Haverkamp1, Jeannette Ossewaarde-van Norel2, Redmer van Leeuwen2

  • 1Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

The Journal of Investigative Dermatology
|June 18, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
ABCC6Angioid streaksDiagnostic criteriaPeau d’orangepseudoxanthomas

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Sensitivity, Specificity, and Predicted Value01:13

Sensitivity, Specificity, and Predicted Value

683
In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
Sensitivity is the...
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