English
Klinische FragestellungSitosterolämie, Differentialdiagnose
Zusammenfassung
Kurzinformation
SP7488_KI
ID
SP7488
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 10 |
Untersuchte Sequenzlänge
32,1 kb (Core-/Core-canditate-Gene)
34,2 kb (Erweitertes Panel: inkl. additional genes)
34,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
SP7488_DH
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ABCA1 | 6786 | NM_005502.4 | AR | |
| ABCG5 | 1956 | NM_022436.3 | AR | |
| ABCG8 | 2022 | NM_022437.3 | AR | |
| APOB | 13692 | NM_000384.3 | AD, AR | |
| CYP27A1 | 1596 | NM_000784.4 | AR | |
| LCAT | 1323 | NM_000229.2 | AR | |
| LDLR | 2583 | NM_000527.5 | AD | |
| PCSK9 | 2079 | NM_174936.4 | AD | |
| LDLRAP1 | 927 | NM_015627.3 | AR | |
| LIPA | 1200 | NM_000235.4 | AR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_SP7488
Synonyme
- Allelic: Fish-eye disease (LCAT)
- Allelic: Gallbladder disease 4 (ABCG8)
- Cerebrotendinous xanthomatosis (CYP27A)
- Cholesteryl ester storage disease (LIPA)
- HDL deficiency, familial, 1 (ABCA1)
- Hypercholesterolemia, familial, 1 (LDLR)
- Hypercholesterolemia, familial, 2 (APOB)
- Hypercholesterolemia, familial, 3 (PCSK9)
- Hypercholesterolemia, familial, 4 (LCAT)
- Hypobetalipoproteinemia (APOB)
- LDL cholesterol level QTL2 (LDLR)
- Low density lipoprotein cholesterol level QTL 1 (PCSK9)
- 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
Bioinformatik und klinische Interpretation
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