Chédiak-Higashi-Syndrom-Gremium
Das Chediak-Higashi-Syndrom, eine seltene autosomal-rezessive Erkrankung, äußert sich in einer beeinträchtigten Lyse phagozytierter Bakterien, was zu wiederkehrenden bakteriellen Atemwegsinfektionen, anderen Infektionen und okulokutanem Albinismus führt. Neutrophile und verschiedene andere Zellen, wie Melanozyten und Schwann-Neuralzellen, weisen riesige lysosomale Körnchen auf. Funktionsgestörte Lysosomen können nicht mit Phagosomen verschmelzen, was zu einer abnormalen Bakterienlyse führt. Dieses Syndrom entsteht durch eine Mutation im LYST-Gen.
Das Chédiak-Higashi-Syndrom-Panel eignet sich für Personen mit klinischen Anzeichen oder Symptomen oder familiärem Verdacht auf ein Chediak-Higashi-Syndrom.
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
- 1 Gen
- Untersucht SNP- und Indel-Mutationen bis zu 150 bp
Liste der Hauptbedingungen:
- Chédiak-Higashi-Syndrom
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