Familial Hypercholesterolemia panel (9 genes) - ULG
Full name: |
Familial Hypercholesterolemia panel (9 genes) - ULG
|
Abbreviation: |
ADRH panel
|
Description: |
Autosomale dominant and recessive forms of familial Hypercholesterolemia.
Investigation of : - coding sequence of APOB, APOE, LDLR (+5'UTR), PCSK9, LDLRAP1, LIPA, ABCG5, ABCG8 and STAP1 by NGS - deletion or duplication in LDLR using Multiplex ligation-dependent probe amplification (MLPA - MRC Holland) https://www.chuliege.be/jcms/c2_17345770/fr/genetique/formulaires-utiles (go to Panel NGS and Descriptif général des gènes du panel ADRH) |
Type of panel: | |
Provider: |
MASTR kit
|
Quality coverage: |
99,91% at 30X for the whole panel (but 100% at 30X for core genes : LDLR - PCSK9 - APOE - APOB exons 26-29)
|
Laboratory: | |
Created: |
04 Jul 2019 - 14:21
|
Changed: |
20 Jan 2023 - 13:51
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCG5 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
ABCG8 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
APOB | 99.79 | 0 | only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered |
APOE | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
LDLR | 100.00 | 1 | only for 5'UTR + coding exons + intronic borders +/-14pb |
LDLRAP1 | 98.69 | 0 | only for coding exons and intronic borders +/-14pb exon 1 is not covered |
LIPA | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
PCSK9 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
STAP1 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |