Panel zur familiären Hypercholesterinämie
Familiäre Hypercholesterinämie ist eine erbliche Erkrankung, die durch einen hohen Cholesterinspiegel im Blut gekennzeichnet ist. Ein Überschuss an Cholesterin erhöht das Risiko, an Herzerkrankungen zu erkranken, bereits in jungen Jahren deutlich.
Personen, die Symptome einer familiären Hypercholesterinämie haben oder in deren Familie diese Erkrankung aufgetreten ist. Dazu können Personen mit sehr hohen LDL-Cholesterinspiegeln (Low Density Lipoprotein) im Blut, Fettablagerungen am Körper (Xanthome), Cholesterinablagerungen am Augenlid (Xanthelasmen) und Sehnenentzündungen gehören.
Die Analyse berücksichtigt die Mutation der Keimbahn-DNA und untersucht SNP- und Indel-Mutationen bis zu 150 bp.
- Verfügbar in weniger als 24 Stunden
- Basierend auf der Sequenzierung des gesamten Genoms
- 4 Gene analysiert
- Untersucht SNP- und Indel-Mutationen bis zu 150 bp
Liste der Hauptbedingungen:
- Hypercholesterinämie, familiär, 1
- Hypercholesterinämie, familiär, 2
- Hypercholesterinämie, familiär, 3
- Hypercholesterinämie, familiär, 4
Simple workflow
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