metabolomics panel
A comprehensive analysis of small molecule metabolites in dried blood spots to detect inborn errors of metabolism.
Full Definition
A metabolomics panel represents an advanced screening approach that analyzes the complete set of small molecule metabolites present in a newborn's dried blood spot. This technology goes beyond traditional targeted screening to identify previously unknown or rare metabolic disorders. The panel can detect metabolic signatures that indicate disrupted biochemical pathways, potentially identifying conditions not covered by standard newborn screening programs. This approach is particularly valuable for detecting ultra-rare disorders and providing a more comprehensive metabolic assessment of the newborn.
Usage
Usage note: Distinguish from standard metabolic panels which test for specific, known disorders.
In Context
- "The laboratory implemented a metabolomics panel to identify rare metabolic disorders missed by conventional screening." — Laboratory report
- "Results from the metabolomics panel indicated potential dysfunction in the urea cycle pathway." — Clinical consultation note