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The Heritable Liver Diseases Genetic Testing Service at Cincinnati Children's provides answers to frequently asked questions about the benefits of genetic testing for heritable liver diseases.
Genetic testing is most appropriate for individuals with intrahepatic cholestasis, manifesting neonatally or later, in which the etiology of the disorder is unknown.
Most cases of cholestatic jaundice are caused by biliary atresia or hepatitis. If these common causes of jaundice have been ruled out, there are a number of less common etiologies to consider. Determination of the underlying etiology of cholestasis in a particular patient may lead to fewer liver complications and improved outcomes overall, according to the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (1). Finding a genetic cause for cholestasis can aid doctors in understanding the mechanism of disease and the prognosis. When the genetic information from many patients is compared in registries, these correlations could lay the foundation for better treatment strategies (2,3).
Genetic test results may provide:
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