This panel covers germline testing for patients with suspected or unexpected cholestatic liver diseases in the pediatric or adult population characterized by intrahepatic cholestasis, pruritus, and jaundice. These diseases are caused by defects in genes related to the secretion and transport of bile salts and lipids. The panel targets a heterogeneous group of inherited cholestatic diseases such as Alagille syndrome, Dubin-Johnson syndrome, Gilbert syndrome, intrahepatic cholestasis of pregnancy, or progressive familial intrahepatic cholestasis types 1-4, among others. This panel includes sequence and deletion/duplication analysis of all the listed genes. 

Institutional Price 
$3,000.00
TAT 
1134
CPT Code 
81443
Test Code 
6 weeks
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA