English
Klinische FragestellungHyperlipidämien/Dyslipidämien, familiäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für familiäre Hyperlipidämien mit 13 Leitlinien-kuratierten bzw. zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP0720
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
32,7 kb (Core-/Core-canditate-Gene)
48,1 kb (Erweitertes Panel: inkl. additional genes)
48,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ABCA1 | 6786 | NM_005502.4 | AR | |
| APOA5 | 1101 | NM_052968.5 | AD, AR | |
| APOB | 13692 | NM_000384.3 | AD, AR | |
| APOC2 | 306 | NM_000483.5 | AR | |
| CREB3L3 | 1386 | NM_032607.3 | AD | |
| GPD1 | 1050 | NM_005276.4 | AR | |
| GPIHBP1 | 555 | NM_178172.6 | AR | |
| LDLR | 2583 | NM_000527.5 | AD, AR | |
| LMF1 | 1704 | NM_022773.4 | AR | |
| LPL | 1428 | NM_000237.3 | AD, AR | |
| PCSK9 | 2079 | NM_174936.4 | AD | |
| ABCG5 | 1956 | NM_022436.3 | AR | |
| ABCG8 | 2022 | NM_022437.3 | AR | |
| APOE | 954 | NM_000041.4 | AD, AR | |
| CETP | 1482 | NM_000078.3 | AD | |
| CYP27A1 | 1596 | NM_000784.4 | AR | |
| CYP7A1 | 1515 | NM_000780.4 | AR | |
| LCAT | 1323 | NM_000229.2 | AR | |
| LDLRAP1 | 927 | NM_015627.3 | AR | |
| LIPA | 1200 | NM_000235.4 | AR | |
| LIPC | 1500 | NM_000236.3 | AR | |
| USF1 | 933 | NM_007122.5 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Hyperlipidämie mit Ungleichgewicht des Cholesterinspiegels, einschließlich Lipoprotein-Cholesterin niedriger Dichte (LDL-C) + Lipoprotein-Cholesterin hoher Dichte (HDL-C) im Blut
Synonyme
- Alias: Familial hyperlipidemia
- Alias: Rare hyperlipidemia
- Allelic: Alzheimer disease 2 (APOE)
- Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch APOE)
- Allelic: Diabetes mellitus, noninsulin-dependent (LIPC)
- Allelic: Gallbladder disease 4 (ABCG8)
- Allelic: Hypobetalipoproteinemia (APOB)
- Allelic: Sea-blue histiocyte disease (APOE)
- Cerebrotendinous xanthomatosis (CYP27A1)
- Cholesteryl ester storage disease (LIPA)
- Combined hyperlipidemia, familial (LPL)
- Coronary artery disease, severe, susceptibility to (APOE)
- Familial combined hyperlipoproteinaemia, inherited mixed hyperlipidaemias [panelapp] (USF1)
- Fish-eye disease (LCAT)
- HDL deficiency, familial, 1 (ABCA1)
- Hepatic lipase deficiency (LIPC)
- High density lipoprotein cholesterol level QTL 10 (CETP)
- High density lipoprotein cholesterol level QTL 11 (LPL)
- High density lipoprotein cholesterol level QTL 12 (LIPC)
- Hyperalphalipoproteinemia (CETP)
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (CYP7A1)
- Hypercholesterolemia, familial, 1 (LDLR)
- Hypercholesterolemia, familial, 2 (APOB)
- Hypercholesterolemia, familial, 3 (PCSK9)
- Hypercholesterolemia, familial, 4 (LDLRAP1)
- Hyperchylomicronemia, late-onset (APOA5)
- Hyperlipidemia, familial combined, susceptibility to (USF1)
- Hyperlipoproteinemia, type 1D (GPIHBP1)
- Hyperlipoproteinemia, type III (APOE)
- Hyperlipoproteinemia, type Ib (APOC2)
- Hypertriglyceridemia 2 (CREB3L3)
- Hypertriglyceridemia disease [MONDO:0005347] (LIPI)
- Hypertriglyceridemia, susceptibility to (APOA5)
- Hypertriglyceridemia, transient infantile (GPD1)
- LDL cholesterol level QTL2 (LDLR)
- Lipase deficiency, combined (LMF1)
- Lipoprotein glomerulopathy (APOE)
- Lipoprotein lipase deficiency (LPL)
- Low density lipoprotein cholesterol level QTL 1 (PCSK9)
- Macular degeneration, age-related (APOE)
- Monogenic dominant hypertriglyceridemia associated with (CREB3L3)
- Norum disease (LCAT)
- Sitosterolemia 1 (ABCG8)
- Sitosterolemia 2 (ABCG5)
- Tangier disease (ABCA1)
- Wolman disease (LIPA)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E78.-
Bioinformatik und klinische Interpretation
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