Gen-Panel
Fettstoffwechselstörungen, umfassende Diagnostik: ID044.03, 62 Gene
ABCA1,
ABCG5,
ABCG8,
ACADM,
ACADS,
ACADVL,
ADRA2A,
AGPAT2,
AKT2,
ANGPTL3,
ANGPTL4,
ANGPTL8,
APOA1,
APOA2,
APOA4,
APOA5,
APOB,
APOC2,
APOC3,
APOE,
BSCL2,
CAV1,
CAVIN1,
CETP,
CIDEC,
CREB3L3,
CYP7A1,
CYP27A1,
DHCR7,
DHCR24,
GCKR,
GK,
GPD1,
GPIHBP1,
LCAT,
LDLR,
LDLRAP1,
LIMA1,
LIPA,
LIPC,
LIPE,
LIPG,
LMF1,
LMNA,
LPA,
LPL,
MTTP,
NPC1,
NPC1L1,
NPC2,
PCSK9,
PCYT1A,
PLAAT3,
PLIN1,
PNPLA5,
POLD1,
PPARG,
SAR1B,
SCARB1,
SMPD1,
SORT1,
ZMPSTE24
HPO Terms
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, Xanthoma, Xanthomatosis, Hepatic steatosis, Fat malabsorption, Accumulation of lipid droplets in small‑bowel enterocytes, Accumulation of lipid droplets in hepatocytes, Reduced lysosomal acid lipase activity, Reduced lipoprotein lipase activity, Unesterified cholesterol accumulation in cultured fibroblasts, Abdominal obesity, Fatty infiltration of liver, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Xanthomatosis
