Bile Acid Synthesis Congenital Defect (5 genes) - UCL

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Full name:
Bile Acid Synthesis Congenital Defect (5 genes) - UCL
Abbreviation:
Panel GP
Type of panel:
Custom panel
Laboratory:
Centre de Génétique Médicale UCL
Created:
06 Nov 2019 - 15:24
Changed:
02 Feb 2022 - 09:14
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AKR1D1 100.00 1 Part of Gastro-Pneumo panel
AMACR 100.00 1 Part of Gastro-Pneumo panel
CYP27A1 100.00 1 Part of Gastro-Pneumo panel
CYP7B1 100.00 1 Part of Gastro-Pneumo panel
HSD3B7 100.00 1 Part of Gastro-Pneumo panel