Disorders


 

Sitosterolemia


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

 

GeneReviewOMIM

GeneLocusProtein
ABCG82p21ATP-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• Sequence analysis of the entire coding region
 
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.

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