Panel

ASPM Sequencing CDKL5 Sequencing CDKN1C Sequencing CENPJ Sequencing ELN Sequencing EpiSign compleet EpiSign compleet – geen late onset EpiSign gericht ERF Sequencing ESCO2 Sequencing FGFR1 Sequencing FGFR2 Sequencing FGFR3 Sequencing FOXG1 Sequencing FOXL2 Sequencing GPC3 Sequencing HEXA Sequencing HPGD Sequencing IRF6 Sequencing LIFR Sequencing MCPH1 Sequencing MECP2 Sequencing Methylering 11p15; 7p12; 7q21; 14q32; 15q11; 20q13 Methylering Chr.11p15 (KCNQ1OT1 & H19) Methylering Chr.14 Methylering Chr.15q11 Methylering Chr.20 MUSK Sequencing NGS Disorder of sex development DSD NGS Foetale akinesie-deformatiesequentie FADS NGS Microcefalie NGS Segmentale overgroei / Vasculaire malformaties (somatisch) NGS Skeletdysplasie Prescreening Multi Locus UPD (MLUPD) RAB23 Sequencing SH3BP2 Sequencing SHOX Sequencing SLCO2A1 Sequencing STIL Sequencing TGFB1 Sequencing TWIST1 Sequencing UBE3A Sequencing UPD UPD Chr.11p UPD Chr.14 UPD Chr.15 UPD Chr.20 UPD Chr.7 WDR62 Sequencing WDR73 Sequencing WT1 Del/Dup analysis XYLT1 Sequencing