P188: Do variants of uncertain significance predict outcomes in long-chain fatty acid oxidation disorders?

Genetics in Medicine Open 2026 Open access

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Authors: Vanessa Rangel Miller, Robyn J. Hylind, Omid Khazaie Japalaghi, Katherine Anderson, Heilo Pedro, Kate Simmons
DOI: 10.1016/j.gimo.2026.103682
Cited by: 0

Abstract

Genetic results for patients with confirmed or suspected long-chain fatty acid oxidation disorders (LC-FAOD) are challenging to interpret due to the frequency of variants of uncertain significance (VUS) identified. Genetic test interpretation in the context of newborn screening (NBS) may be especially challenging for patients who are not symptomatic. Data from a large genetic testing program were used to address two research questions:

Fields of Study & Subjects

Metabolism and Genetic Disorders Genomics and Rare Diseases Lysosomal Storage Disorders Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103682–103682
Publication date
1 January 2026
Language
EN