Sprechstunden/ Spezialsprechstunden am MGZ
ETFA
Methodik
Next Generation Sequencing (NGS)
Parallele Sequenzierung mehrerer Gene
Dauer
3-6 Wochen
Material
2-4 ml EDTA-Blut
OMIM
608053
Gen-Panel-Analysen, die ETFA enthalten
Bewegungsstörungen - Gesamtpanel ID 233.04 | >25kb
Gen Panel (363 Gene )
Carrier Screening - Couple ID 164.03 | >25kb
Gen Panel (617 Gene )
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb
Gen Panel (462 Gene )
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb
Gen Panel (462 Gene )
Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03 | >25kb
Gen Panel (189 Gene )
Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03 | >25kb
Gen Panel (189 Gene )
Geistige Behinderung - behandelbar ID 922.00 | >25kb
Gen Panel (140 Gene )
Geistige Behinderung - behandelbar ID 922.00 | >25kb
Gen Panel (140 Gene )
Mitochondriopathien - Gesamtpanel ID 087.05 | >25kb
Gen Panel (299 Gene )
Muskelschwäche Erwachsenenalter ID 045.03 | >25kb
Gen Panel (106 Gene )
Myopathien/Muskeldystrophien - Gesamtpanel ID 089.07 | >25kb
Gen Panel (222 Gene )
Syndromale Erkrankungen - Gesamtpanel ID 161.05 | >25kb