Panel

22q11 MLPA ABCA3 Analysis ABCA4 Analysis ABCB11 Analysis ABCB4 Analysis ABCC2 Analysis ABCC6 Analysis ABCC8 Analysis ACVR1 Analysis ADA2 Analysis ADAR Analysis AIFM1 selected exon sequencing AIMP1 Analysis ANG Analysis ANGPT1 Analysis APP Analysis ASPM Analysis ATP8B1 Analysis AUTS2 Analysis BEST1 Analysis BMPR2 Analysis BRIP1 Analysis BSCL2 Analysis C9ORF72 Repeat analysis CABP4 Analysis (AR) CACNA1F Analysis (X-linked) CASK Analysis CCBE1 Analysis CCDC114 Analysis CDKL5 Analysis CDKN1C Analysis CENPJ Analysis CFP Analysis CFTR Analysis CHMP2B Analysis Chr. Y deleties CLCN2 Analysis CNGA3 Analysis CNGB3 Analysis COL10A1 Analysis COL1A1 Analysis COL1A2 Analysis COL3A1 Analysis COL4A1 Analysis COL4A2 Analysis CSF1R Analysis CTC1 Analysis CTDP1 Analysis CTSF Analysis CYB5R3 Analysis CYP1B1 Analysis DHH Analysis DJ-1 (PARK7) Analysis DNM2 Analysis DOCK8 Analysis DPP6 Genotyping DSP Analysis EGR2 Analysis ELANE Analysis ELN Analysis EMD Analysis ENPP1 Analysis ERF Analysis ESCO2 Analysis EXOSC3 Analysis F12 (Exon 9) Analysis F7 Analysis F8 Analysis FA2H Analysis FAM126A Analysis FANCA Analysis FANCB Analysis FANCC Analysis FANCE Analysis FANCF Analysis FANCG Analysis FANCI Analysis FANCL Analysis FAT4 Analysis FBN1 Analysis FGD4 Analysis FGFR1 Analysis FGFR2 Analysis FGFR3 Analysis FIG4 Analysis FLCN Analysis FLT4 Analysis FMR1-CGG Repeat analysis FOXC1 Analysis FOXC2 Analysis FOXE1 Del/Dup analysis FOXF1 Analysis FOXG1 Analysis FOXL2 Analysis FOXP3 Analysis FRMD7 Analysis FTL Analysis Functionele trilhaartest PCD FUS Analysis G6PC3 Analysis GARS1 Analysis GATA1 Analysis GATA4 Analysis GBA Analysis GDAP1 Analysis GFI1 Analysis GGCX Analysis GJB1 Analysis GJC2 Analysis GJC2 Analysis GLA Analysis GLA Del/Dup analysis GNAS (Codon 201, 227) GNAS Analysis GNAS CNV + Methylering GPC3 Analysis GPR143 Analysis GPR179 Analysis (AR) GRM6 Analysis (AR) GRN (PGRN) Analysis HCN4 Analysis HDAC8 Analysis HEPACAM Analysis HESX1 Del/Dup analysis HEXA Analysis HOXB13 Analysis HPGD Analysis HSPB1 Analysis HSPB8 Analysis HSPB8 Analysis (HMN) HSPD1 Analysis IDS Analysis IFIH1 Analysis IGHMBP2 Analysis IRF6 Analysis ITGA3 Analysis KCNE1 Analysis KCNH2 Analysis KCNJ11 Analysis KCNJ5 Analysis KCNQ1 Analysis KLLN promotor Methylation analysis LAMP2 Analysis LDLR Del/Dup analysis LHX3 Del/Dup analysis LHX4 Del/Dup analysis LIFR Analysis LITAF Analysis LMNA Analysis LMNA Analysis + CNV LMNA Del/Dup analysis LMNB1 MLPA LRRK2 (PARK8) Analysis LRSAM1 Analysis MAPT Analysis MC4R Analysis MCPH1 Analysis MECP2 Analysis Methylering 11p15; 7p12; 7q21; 14q32; 15q11; 20q13 Methylering Chr.11p15 (KCNQ1OT1 & H19) Methylering Chr.14 Methylering Chr.15q11 Methylering Chr.20 MFN2 Analysis Microdeleties MLPA MLH1 Analysis MPZ Analysis MSH2 Analysis MSH6 Analysis MTM1 Analysis MTMR2 Analysis Multi Locus Imprinting Disorders (MLID) MUSK Analysis MUTYH 2 founder mutaties sequencing MUTYH Analysis MYOC Analysis NDRG1 Analysis NEFL Analysis NGF Analysis 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 Porencefalie en andere COL4A1-gerelateerde aandoeningen 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 en Vasculaire malformaties (somatisch) NGS Skeletdysplasie NGS Spieraandoeningen NGS Stickler syndroom en gerelateerde aandoeningen NGS Sudden cardiac death NGS Visus pakket Retinale genen NGS Wittestofziekten NIPBL Analysis NKX2-1 Analysis NKX2-5 Analysis NPC1 Analysis NPC2 Analysis NR1H4 Analysis NYX Analysis (X-linked) OCA2 Analysis OPA1 Analysis OPA3 Analysis OPTN Analysis OTX2 Analysis PALB2 Analysis PARKIN (PARK2) Analysis PAX6 Analysis PAX8 Del/Dup analysis PCD Volendamse founder mutatie PCH Volendamse founder mutatie PINK1 (PARK6) Analysis PITX2 Analysis PLG Analysis PLN Analysis PLP1 Analysis PLP1 Del/Dup analysis PMP22 Analysis PMP22 Analysis PMP22 Del/Dup analysis PMS2 Analysis POLR1C Analysis POLR3A Analysis POLR3B Analysis PORCN Analysis POU1F1 Del/Dup analysis PRKAG2 Analysis PRKAR1A Analysis PRNP Analysis PROP1 Del/Dup analysis PRPH2 Analysis PSEN1 Analysis PSEN2 Analysis PTCH1 Analysis PTEN Analysis PTEN Del/Dup analysis PTH1R Analysis RAB23 Analysis RAB7A Analysis RAD51C Analysis RARS2 Analysis RASA1 Analysis RNASEH2A Analysis RNASEH2B Analysis RNASEH2C Analysis RNASET2 Analysis RP2 Analysis RPGR Analysis RPL11 Analysis RPL15 Analysis RPL17 Analysis RPL26 Analysis RPL27 Analysis RPL31 Analysis RPL35A Analysis RPL5 Analysis RPS10 Analysis RPS15A Analysis RPS17 Analysis RPS19 Analysis RPS24 Analysis RPS26 Analysis RPS27 Analysis RPS28 Analysis RPS29 Analysis RPS7 Analysis RPS8 Analysis RS1 Analysis SAMHD1 Analysis Sanger Blackfan-Diamond anemie Sanger panel Fanconi anemie SBDS Analysis SEPTIN9 Analysis SERPING1 Analysis SETX Analysis SFTPB Analysis SFTPC Analysis SGCE Analysis SH3BP2 Analysis SH3TC2 Analysis SHANK3 Analysis SHOX Analysis SIX6 Analysis SLC26A4 Analysis SLC45A2 Analysis SLCO2A1 Analysis SMC1A Analysis SMPD1 Analysis SNCA (PARK1) Analysis SNORD118 Analysis SOD1 Analysis SOX18 Analysis SOX2 Analysis SPTLC1 Analysis STAT3 Analysis STIL Analysis STK11 Analysis TARDBP Analysis TAZ Analysis TBX5 Analysis TEK Analysis TGFB1 Analysis THAP1 Analysis THRB Analysis TMEM106B Analysis TMEM63A Analysis TOE1 Analysis TOR1A Analysis TP53 Analysis TPO Del/Dup analysis TREX1 Analysis TRPM1 Analysis (AR) TRPM4 Analysis TRPS1 Analysis TRPV4 Analysis TSEN2 Analysis TSEN34 Analysis TSEN54 Analysis TSHR Analysis TSR2 Analysis TTR Analysis TUBB4A Analysis TWIST1 Analysis TYR Analysis UBE3A Analysis UFM1 Select exon sequencing UPD UPD Chr.11p UPD Chr.14 UPD Chr.15 UPD Chr.20 UPD Chr.7 VCP Analysis VEGFC Analysis VRK1 Analysis WAS Analysis WBS MLPA WDR62 Analysis WDR73 Analysis WNK1 Analysis WT1 Analysis WT1 Del/Dup analysis XYLT1 Analysis