Disorders


 

Bile Acid Synthesis Defect, Congenital, 3


Synonym(s): CBAS3

 

OMIM

GeneLocusProtein
CYP7B18q21.325-hydroxycholesterol 7-alpha-hydroxylase

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 

* 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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