Panel

22q11 MLPA ABCA3 Sequencing ABCA4 Sequencing ABCB11 Sequencing ABCB4 Sequencing ABCC2 Sequencing ABCC6 Sequencing ABCC8 Sequencing ACVR1 Sequencing ADA2 Sequencing ADAR Sequencing AIFM1 selected exon sequencing AIMP1 Sequencing ANG Sequencing ANGPT1 Sequencing APP Sequencing ASPM Sequencing ATP8B1 Sequencing AUTS2 Sequencing BEST1 Sequencing BMPR2 Sequencing BRIP1 Sequencing BSCL2 Sequencing C9ORF72 Repeat analysis CABP4 Sequencing (AR) CACNA1F Sequencing (X-linked) CASK Sequencing CCBE1 Sequencing CCDC114 Sequencing CDKL5 Sequencing CDKN1C Sequencing CENPJ Sequencing CFP Sequencing CFTR Sequencing CHMP2B Sequencing Chr. Y deleties CLCN2 Sequencing CNGA3 Sequencing CNGB3 Sequencing COL10A1 Sequencing COL1A1 Sequencing COL1A2 Sequencing COL3A1 Sequencing COL4A1 Sequencing COL4A2 Sequencing CSF1R Sequencing CTC1 Sequencing CTDP1 Sequencing CTSF Sequencing CYB5R3 Sequencing CYP1B1 Sequencing DHH Sequencing DJ-1 (PARK7) Sequencing DNM2 Sequencing DOCK8 Sequencing DPP6 Genotyping DSP Sequencing EGR2 Sequencing ELANE Sequencing ELN Sequencing EMD Sequencing ENPP1 Sequencing ERF Sequencing ESCO2 Sequencing EXOSC3 Sequencing F12 (Exon 9) Sequencing F7 Sequencing F8 Sequencing FA2H Sequencing FAM126A Sequencing FANCA Sequencing FANCB Sequencing FANCC Sequencing FANCE Sequencing FANCF Sequencing FANCG Sequencing FANCI Sequencing FANCL Sequencing FAT4 Sequencing FBN1 Sequencing FGD4 Sequencing FGFR1 Sequencing FGFR2 Sequencing FGFR3 Sequencing FIG4 Sequencing FLCN Sequencing FLT4 Sequencing FMR1-CGG Repeat Analysis FOXC1 Sequencing FOXC2 Sequencing FOXE1 Del/Dup analysis FOXF1 Sequencing FOXG1 Sequencing FOXL2 Sequencing FOXP3 Sequencing FRMD7 Sequencing FTL Sequencing Functionele trilhaartest PCD FUS Sequencing G6PC3 Sequencing GARS1 Sequencing GATA1 Sequencing GATA4 Sequencing GBA Sequencing GDAP1 Sequencing GFI1 Sequencing GGCX Sequencing GJB1 Sequencing GJC2 Sequencing GJC2 Sequencing GLA Del/Dup analysis GLA Sequencing GNAS (Codon 201, 227) GNAS CNV + Methylering GNAS Sequencing GPC3 Sequencing GPR143 Sequencing GPR179 Sequencing (AR) GRM6 Sequencing (AR) GRN (PGRN) Sequencing HCN4 Sequencing HDAC8 Sequencing HEPACAM Sequencing HESX1 Del/Dup analysis HEXA Sequencing HOXB13 Sequencing HPGD Sequencing HSPB1 Sequencing HSPB8 Sequencing HSPB8 Sequencing (HMN) HSPD1 Sequencing IDS Sequencing IFIH1 Sequencing IGHMBP2 Sequencing IRF6 Sequencing ITGA3 Sequencing KCNE1 Sequencing KCNH2 Sequencing KCNJ11 Sequencing KCNJ5 Sequencing KCNQ1 Sequencing KLLN promotor Methylation analysis LAMP2 Sequencing LDLR Del/Dup analysis LHX3 Del/Dup analysis LHX4 Del/Dup analysis LIFR Sequencing LITAF Sequencing LMNA Del/Dup analysis LMNA Sequencing LMNA Sequencing + CNV LMNB1 MLPA LRRK2 (PARK8) Sequencing LRSAM1 Sequencing MAPT Sequencing MC4R 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 MFN2 Sequencing Microdeleties MLPA MLH1 Sequencing MPZ Sequencing MSH2 Sequencing MSH6 Sequencing MTM1 Sequencing MTMR2 Sequencing Multi Locus Imprinting Disorders (MLID) MUSK Sequencing MUTYH 2 founder mutaties sequencing MUTYH Sequencing MYOC Sequencing NDRG1 Sequencing NEFL Sequencing NGF Sequencing NGS Albinisme NGS Amyotrofe Lateraal Sclerose ALS NGS Aorta en arteriële dilatatie/dissectie NGS Aortaklep en mitralisklep afwijkingen NGS Aritmie NGS Arthrogrypose NGS BAP1 – HCS panel NGS Bewegingsstoornissen NGS Borst- en ovariumkanker – HCS panel NGS Brugada syndrome NGS Cardio Spoed panel NGS Cardiomyopathie NGS Cone-rod dystrophie en macula degeneratie NGS Congenitale hartafwijkingen NGS Congenitale stationaire nachtblindheid NGS Cornelia de Lange NGS Cowden syndroom NGS Cutis laxa en gerelateerde aandoeningen NGS Dementie NGS Dementie risicofactoren NGS Disorder of sex development DSD NGS Dominante opticus atrofie NGS Dyslipidemie NGS Ehlers-Danlos syndromen NGS Epilepsie NGS Foetale akinesie-deformatiesequentie FADS NGS Glaucoom NGS Hemofagocytair syndroom (HLH) NGS Hyperinsulinisme NGS Hypothyreodie NGS Idiopathische pulmonale arteriėle hypertensie (IPAH) NGS Intellectual disability NGS Interstitiële longziekten ILD NGS Lange QT-syndroom NGS Leber congenital amaurosis LCA NGS Lens luxatie en gerelateerde syndromen NGS Linkeropathieën en gerelateerde syndromen NGS Lymfoedeem NGS Maagkanker – HCS-panel NGS Marfan syndroom en andere marfanachtige beelden NGS Mendelioom NGS Metabole aandoeningen NGS Microcefalie NGS MMR – HCS panel NGS Neonatale diabetes-mellitus NGS Neurodegeneration with brain iron accumulation NBIA NGS Neuropathy/Charcot Marie Tooth NGS Niercelcarcinoom NGS Obesitas NGS Oncopanel 1 NGS Oncopanel 2 NGS Osteogenesis imperfecta en gerelateerde aandoeningen NGS Osteopetrose en gerelateerde botdysplasieën NGS Pancreaskanker – HCS panel NGS Parkinson NGS Polyposis NGS Pontocerebellaire hypoplasie PCH NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Primaire ciliaire dyskinesie PCD NGS Primaire immunodeficientie PID NGS Prostaatkanker – HCS panel NGS Retinitis pigmentosa NGS Segmentale overgroei / Vasculaire malformaties (somatisch) NGS Skeletdysplasie NGS Spieraandoeningen NGS Stickler syndroom en gerelateerde aandoeningen NGS Sudden cardiac death NGS Vaatmalformaties NGS Visus pakket Retinale genen NGS Wittestofziekten NIPBL Sequencing NKX2-1 Sequencing NKX2-5 Sequencing NPC1 Sequencing NPC2 Sequencing NR1H4 Sequencing NYX Sequencing (X-linked) OCA2 Sequencing OPA1 Sequencing OPA3 Sequencing OPTN Sequencing OTX2 Sequencing PALB2 Sequencing PARKIN (PARK2) Sequencing PAX6 Sequencing PAX8 Del/Dup analysis PCD Volendamse founder mutatie PCH Volendamse founder mutatie PINK1 (PARK6) Sequencing PITX2 Sequencing PLG Sequencing PLN Sequencing PLP1 Del/Dup analysis PLP1 Sequencing PMP22 Del/Dup analysis PMP22 Sequencing PMP22 Sequencing PMS2 Sequencing POLR1C Sequencing POLR3A Sequencing POLR3B Sequencing PORCN Sequencing POU1F1 Del/Dup analysis PRKAG2 Sequencing PRKAR1A Sequencing PRNP Sequencing PROP1 Del/Dup analysis PRPH2 Sequencing PSEN1 Sequencing PSEN2 Sequencing PTCH1 Sequencing PTEN Del/Dup analysis PTEN Sequencing PTH1R Sequencing RAB23 Sequencing RAB7A Sequencing RAD51C Sequencing RARS2 Sequencing RASA1 Sequencing RNASEH2A Sequencing RNASEH2B Sequencing RNASEH2C Sequencing RNASET2 Sequencing RP2 Sequencing RPGR Sequencing RPL11 Sequencing RPL15 Sequencing RPL17 Sequencing RPL26 Sequencing RPL27 Sequencing RPL31 Sequencing RPL35A Sequencing RPL5 Sequencing RPS10 Sequencing RPS15A Sequencing RPS17 Sequencing RPS19 Sequencing RPS24 Sequencing RPS26 Sequencing RPS27 Sequencing RPS28 Sequencing RPS29 Sequencing RPS7 Sequencing RPS8 Sequencing RS1 Sequencing SAMHD1 Sequencing Sanger Blackfan-Diamond anemie Sanger panel Fanconi anemie SBDS Sequencing SEPTIN9 Sequencing SERPING1 Sequencing SETX Sequencing SFTPB Sequencing SFTPC Sequencing SGCE Sequencing SH3BP2 Sequencing SH3TC2 Sequencing SHANK3 Sequencing SHOX Sequencing SIX6 Sequencing SLC26A4 Sequencing SLC45A2 Sequencing SLCO2A1 Sequencing SMC1A Sequencing SMPD1 Sequencing SNCA (PARK1) Sequencing SNORD118 Sequencing SOD1 Sequencing SOX18 Sequencing SOX2 Sequencing SPTLC1 Sequencing STAT3 Sequencing STIL Sequencing STK11 Sequencing TARDBP Sequencing TAZ Sequencing TBX5 Sequencing TEK Sequencing TGFB1 Sequencing THAP1 Sequencing THRB Sequencing TMEM106B Sequencing TMEM63A Sequencing TOE1 Sequencing TOR1A Sequencing TP53 Sequencing TPO Del/Dup analysis TREX1 Sequencing TRPM1 Sequencing (AR) TRPM4 Sequencing TRPS1 Sequencing TRPV4 Sequencing TSEN2 Sequencing TSEN34 Sequencing TSEN54 Sequencing TSHR Sequencing TSR2 Sequencing TTR Sequencing TUBB4A Sequencing TWIST1 Sequencing TYR Sequencing UBE3A Sequencing UFM1 Select exon sequencing UPD UPD Chr.11p UPD Chr.14 UPD Chr.15 UPD Chr.20 UPD Chr.7 VCP Sequencing VEGFC Sequencing VRK1 Sequencing WAS Sequencing WBS MLPA WDR62 Sequencing WDR73 Sequencing WNK1 Sequencing WT1 Del/Dup analysis WT1 sequencing XYLT1 Sequencing