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Genetic and Rare Diseases Information Center (GARD)

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Bile acid synthesis defect, congenital, 4

Other Names for this Disease
  • CBAS4
  • Cholestasis, intrahepatic, with defective conversion of
  • Trihydroxycoprostanic acid in bile
  • Trihydroxycoprostanic acid to cholic acid
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Tests & Diagnosis

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  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.