Disorders

Bile Acid Synthesis Defect, Congenital, 2

Synonym(s): CBAS2, Cholestasis with Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency

Gene	Locus	Protein
AKR1D1	7q32-q33	3-oxo-5-beta-steroid 4-dehydrogenase

Laboratory	Test Method	Prenatal	Carrier *
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• 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.