Disorders


 

Lathosterolosis


Synonym(s): SC5D Deficiency, Sterol C5-Desaturase Deficiency

 

OMIM

GeneLocusProtein
SC5D11q23.3Lathosterol oxidase

Laboratory Test Method Prenatal Carrier *
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• 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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