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Updated: Jan 31, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Update on the diagnosis, treatment and management of rare genetic lipid disorders
David M Ng1, John R Burnett2, Damon A Bell2
1School of Medicine, Faculty of Health & Medical Sciences, University of Western Australia, Perth, WA, Australia.
Abstract:
Rare genetic lipid disorders affect the levels of cholesterol and/or triglyceride in the circulation and, if untreated, can often lead to severe multisystem complications. The field of rare lipid disorders is evolving and increasing awareness of these conditions, along with the systematic integration of recent advances or knowledge into clinical practice, is crucial to improve patient outcomes. The aim of this review is to provide an overview of selected rare genetic lipid disorders, focusing on the recommended diagnostic strategies and contemporary treatment and management options.
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