Belgian Genetic Tests database
Metabolic diseases with hepatic disorders (20 genes) - UCL
| Full name: |
Metabolic diseases with hepatic disorders (20 genes) - UCL
|
| Abbreviation: |
Panel GP
|
| Type of panel: | |
| Laboratory: | |
| Created: |
06 Nov 2019 - 14:45
|
| Changed: |
02 Feb 2022 - 11:28
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ATP7B | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| CPT1A | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| CYP27A1 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| DGUOK | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| DHCR7 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| EHHADH | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| GBE1 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| GNAS | 0.00 | 1 | Part of Custom Gastro-pneumo panel / only Exons 8 and 9 |
| GUSB | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| LIPA | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| MPV17 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| NEU1 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| NPC1 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| NPC2 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| POLG | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| SI | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| SLC25A13 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| SMPD1 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| TALDO1 | 100.00 | 1 | Part of Custom Gastro-pneumo panel |
| TRMU | 100.00 | 1 | Part of Custom Gastro-pneumo panel |