Sprechstunden/ Spezialsprechstunden am MGZ
ATP7A
Methodik
Next Generation Sequencing (NGS)
Parallele Sequenzierung mehrerer Gene
Dauer
3-6 Wochen
Material
2-4 ml EDTA-Blut
OMIM
300011
Gen-Panel-Analysen, die ATP7A enthalten
Carrier Screening - Couple ID 164.03 | >25kb
Gen Panel (617 Gene )
Geistige Behinderung - behandelbar ID 922.00 | >25kb
Gen Panel (140 Gene )
Geistige Behinderung - behandelbar ID 922.00 | >25kb
Gen Panel (140 Gene )
Neuropathie, motorisch-sensibel / CMT1, CMT2, dHMN - umfassende Diagnostik ID 288.02 | >25kb
Gen Panel (117 Gene )
Neuropathie/Motoneuropathie - Gesamtpanel ID 086.05 | >25kb
Gen Panel (279 Gene )
Syndromale Erkrankungen - Gesamtpanel ID 161.04 | >25kb
Gen Panel (474 Gene )
X-chromosomale mentale Retardierung ID 154.02 | >25kb