Byler Disease (ATP8B1) Targeted Testing

AKA: Progressive Familial Intrahepatic Cholestasis-1
Short Name: ATP8B1 Targeted

Byler disease, also known as progressive familial intrahepatic cholestasis, is an autosomal recessive liver disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. The c.923G>T (p.Gly308Val) variant in exon 10 of the ATP8B1 gene is the most frequent pathogenic variant found in patients from the Old Order Amish population who have Progressive Familial Intrahepatic Cholestasis or Byler Disease. This targeted testing will specifically analyze the c.923G>T pathogenic variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 211600
MedGen: 1645830