Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Amyloid beta (A4) Vorläuferprotein

Das APP-Gen kodiert ein Membranprotein dessen Spaltprodukte verschiedene biologischen Funktionen dienen. Wenn diese Spaltprodukte nicht vollständig beseitigt werden können und akkumulieren kann eine Alzheimer-Erkrankung oder eine and zerebroarterielle Amyloidose entstehen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Alzheimer Erkrankung
APOE
APP
CLU
CYP2D6
HFE
Zerebroarterielle Amyloidose vom Holländischen Typ
APP

Referenzen:

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2.

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