Familial Hypercholesterolemia panel (9 genes) - ULG

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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