Cholestasis, progressive familial intrahepatic (5 genes) - UCL
Full name: |
Cholestasis, progressive familial intrahepatic (5 genes) - UCL
|
Abbreviation: |
Panel GP
|
Type of panel: | |
Laboratory: | |
Created: |
06 Nov 2019 - 15:45
|
Changed: |
02 Feb 2022 - 09:41
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCB11 | 100.00 | 1 | Part of Gastro-pneumo panel |
ABCB4 | 100.00 | 1 | Part of Gastro-pneumo panel |
ATP8B1 | 100.00 | 1 | Part of Gastro-pneumo panel |
NR1H4 | 100.00 | 1 | Part of Gastro-pneumo panel |
TJP2 | 100.00 | 1 | Part of Gastro-pneumo panel |