Sprechstunden/ Spezialsprechstunden am MGZ
CYP27A1
Methodik
Next Generation Sequencing (NGS)
Parallele Sequenzierung mehrerer Gene
Dauer
3-6 Wochen
Material
2-4 ml EDTA-Blut
OMIM
606530
Gen-Panel-Analysen, die CYP27A1 enthalten
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 )
Cholestase / parenchymaler Leberschaden ID 189.01 | >25kb
Gen Panel (64 Gene )
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb
Gen Panel (462 Gene )
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb
Gen Panel (462 Gene )
Geistige Behinderung - behandelbar ID 922.00 | >25kb
Gen Panel (140 Gene )
Geistige Behinderung - behandelbar ID 922.00 | >25kb
Gen Panel (140 Gene )
Hereditäre spastische Paraparese (HSP) ID 148.03 | >25kb
Gen Panel (117 Gene )
Hirnfehlbildungen / neuronale Migrationsstörungen - Gesamtpanel ID 144.05 | >25kb
Gen Panel (280 Gene )
Katarakt ID 120.02 | >25kb
Gen Panel (69 Gene )
Leukodystrophie ID 241.01 | >25kb
Gen Panel (72 Gene )
Neuropathie, motorisch-sensibel / CMT1, CMT2, dHMN - umfassende Diagnostik ID 288.02 | >25kb
Gen Panel (117 Gene )
Neuropathie/Motoneuropathie - Gesamtpanel ID 086.08 | >25kb