Sprechstunden/ Spezialsprechstunden am MGZ
ATM
Methodik
Next Generation Sequencing (NGS)
Parallele Sequenzierung mehrerer Gene
Dauer
3-6 Wochen
Material
2-4 ml EDTA-Blut
OMIM
607585
Gen-Panel-Analysen, die ATM enthalten
Antikörperdefizienzen ID 878.00 | >25kb
Gen Panel (47 Gene )
Ataxie - Gesamtpanel ID 149.05 | >25kb
Gen Panel (121 Gene )
Ataxie – Manifestation im Erwachsenenalter (ohne Repeat-assoziierte Ataxieformen) ID 936.00 | >25kb
Gen Panel (153 Gene )
Bewegungsstörungen - Gesamtpanel ID 233.04 | >25kb
Gen Panel (363 Gene )
Carrier Screening - Couple ID 164.03 | >25kb
Gen Panel (617 Gene )
Dystonie, Dyskinesie - Gesamtpanel ID 231.02 | >25kb
Gen Panel (56 Gene )
Erbliche Tumorerkrankungen, umfassende Diagnostik ID 093.03 | >25kb
Gen Panel (171 Gene )
Neuropathie/Motoneuropathie - Gesamtpanel ID 086.08 | >25kb
Gen Panel (299 Gene )
PreCan ID 921.00 | >25kb
Gen Panel (70 Gene )
PreCan+ ID 935.00 | >25kb
Gen Panel (70 Gene )
Primäre Immundefekte ID 907.01 | >25kb
Gen Panel (250 Gene )
Schwere kombinierte Immundefizienz (SCID) ID 879.00 | >25kb