Disorders

Sitosterolemia

Synonym(s): Beta-sitosterolemia, Phytosterolaemia, Phytosterolemia, Sitosterolaemia

Gene	Locus	Protein
ABCG8	2p21	ATP-binding cassette sub-family G member 5

Laboratory	Test Method	Prenatal	Carrier *
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA	• Analyte
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Oregon Health and Science University, Lipid-Atherosclerosis and Sterols Analysis Lab - Portland, OR, USA	• Analyte
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.