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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

25 May 2022

Abstract excerpt

To present our experience using a multiomic approach, which integrates genetic and biochemical testing as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). A cohort of 3720 patients from 62 countries was tested using a panel including 206 genes with single nucleotide and copy number variant (SNV/CNV) detection, followed by semi-automatic variant filtering and reflex biochemical...

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PMID: 35614200
DOI: 10.1038/s41431-022-01119-5

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