Wissenschaftliche Information:

Zusammenfassung: Das Gen INSR kodiert den Insulinrezeptor, der für die metabilische Wirkung des Insulins in den Zellen verantwortlich ist. Verschiedene Krankheitsbilder stehen mit Mutationen diese Gens im Zusammenhang. Das sind die autosomal dominante Insulinresistenz und die beiden autosomal rezessiven Erkrankungen Donohue-Syndrom (Leprechaunismus) und Rabson-Mendenhall-Syndrom.

Methodik:

	Klinische Diagnostik	Methode		Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
		Bearbeitungszeit		25 Arbeitstage
		Aufwand		mässig
		Untersuchungsmaterial		DNA
		Qualitätssicherung		Ausschließlich interne Qualitätskontrolle
	Mit dieser Methode werden bekannte sowie auch neue Missense-, Nonsense- und Spleißmutationen entdeckt.
	Klinische Diagnostik	Methode		Familienuntersuchung
		Bearbeitungszeit		5 Arbeitstage
		Aufwand		gering
		Untersuchungsmaterial		DNA
		Qualitätssicherung		Ausschließlich interne Qualitätskontrolle
	Die Untersuchung ist nur für die in dieser Familie bekannte Mutation spezifisch.

Literatur: 

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