Panel naam | NGS Dyslipidemie |
---|---|
Panel methode | Targeted NGS |
Panel versie ** | DLv5 |
Panel kwaliteit *** | A |
Core-NL | Geen core-NL genen inbegrepen |
CNV analyse | Ja |
Notitie | incl. 2 SNPs in LPA (rs10455872 en rs3798220) |
Locatie | Locatie AMC |
Genen (29) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
---|---|---|---|---|---|
ABCA1 | A | 100.0 | 100.0 | ||
ABCG5 | A | 100.0 | 100.0 | ||
ABCG8 | A | 100.0 | 100.0 | ||
ANGPTL3 | A | 100.0 | 100.0 | ||
APOA1 | A | 100.0 | 100.0 | ||
APOA5 | A | 100.0 | 100.0 | ||
APOB | A | 100.0 | 100.0 | ||
APOC2 | A | 100.0 | 100.0 | ||
APOC3 | A | 100.0 | 100.0 | ||
APOE | A | 100.0 | 100.0 | ||
CETP | A | 100.0 | 100.0 | ||
CYP27A1 | A | 100.0 | 100.0 | ||
CYP7A1 | A | 100.0 | 100.0 | ||
GPD1 | A | 100.0 | 100.0 | ||
GPIHBP1 | A | 100.0 | 100.0 | ||
LCAT | A | 100.0 | 100.0 | ||
LDLR | A | 100.0 | 100.0 | ||
LDLRAP1 | A | 100.0 | 100.0 | ||
LIPA | A | 100.0 | 100.0 | ||
LIPC | A | 100.0 | 100.0 | ||
LIPG | A | 100.0 | 100.0 | ||
LMF1 | A | 100.0 | 100.0 | ||
LPL | A | 100.0 | 100.0 | ||
MTTP | A | 100.0 | 100.0 | ||
MYLIP | A | 100.0 | 100.0 | ||
PCSK9 | A | 100.0 | 100.0 | ||
SAR1B | A | 100.0 | 100.0 | ||
SCARB1 | A | 100.0 | 100.0 | ||
SLCO1B1 | A | 100.0 | 100.0 |
Indicatie(s) |
---|
Dyslipidemie (o.a. Familiaire Hypercholesterolemie/FH) |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C