Inherited disorders with cholestasis

As part of the specialized care at our University Hospital in Regensburg for patients with liver disorders the Hehr laboratory is offering genetic testing for a group of inherited liver disorders with cholestasis. Infants with progressive familial intrahepatic cholestasis (PFIC) develop liver failure in the first or second decade and ultimately require liver transplantation. Three causal genes necessary for bile flow across the canalicular membrane have so far been identified: ATP8B1, ABCB4 and ABCB11. Milder allelic forms without liver failure include benign recurrent intrahepatic cholestasis (BRIC), intrahepatic cholestasis in pregnancy (ICP), Drug- induced liver injury and low phospholipid-associated cholestasis (LPAC).

We offer in our accredited laboratory:

  • pretest evaluation of your patients clinical information in order to develop an individual genetic testing strategy
  • diagnostic prenatal and postnatal genetic testing by Sanger Sequencing
  • Next Generation Sequencing with a disease specific panel, covering 84 genes associated with hepatopathy and/or cholestasis
  • carrier testing
  • prenatal carrier testing in subsequent pregnancies for disorders with clinical manifestation prior to adolescence.

All identified sequence alterations, relevant or potentially relevant for the clinical findings of your patient, are

  • confirmed by Sanger sequencing,
  • carefully assessed using our in house evaluation workflow including comparison with the human reference genome hg19, publically available and our own extensive mutation database as well as in silico prediction of functional consequences applying different algorithms,
  • rated and summarized in an individual medical report considering provided clinical data.

In addition to our NGS panel, covering 84 genes associated with liver disorders and cholestasis, we offer at our center genetic testing by Sanger Sequencing for:

Disease Disease
OMIM
Gene Gene
OMIM
Chromosomal
location
familial intrahepatic Cholestasis        
Cholestasis, benign recurrent intrahepatic (BRIC1, BRIC2) (+Linkage) 243300
605479
ATP8B1
ABCB11
ABCB4
602397
603201
171060
18q21
2q24
7q21.1
Cholestasis, intrahepatic, of pregnancy, 1 (ICP) (+Linkage) 614972
147480
ABCB4
ATP8B1
ABCB11
171060
602397
603201
7q21.1
18q21
Cholestasis, progressive familial intrahepatic 1 (PFIC1, PFIC2, PFIC3) (+Linkage) 211600
601847
602347
ATP8B1
ABCB11
ABCB4
602397
603201
171060
18q21
2q24
7q21.1