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 CACNA1F Analysis Cardio expedited panel CASK Analysis CCBE1 Analysis CCDC114 Analysis CDKL5 Analysis CDKN1C Analysis CENPJ Analysis CFP Analysis CFTR Analysis CHMP2B Analysis Chr. Y deletions Ciliary functional analysis PCD 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 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 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 + Methylation GPC3 Analysis GPR143 Analysis GPR179 Analysis GRM6 Analysis GRN 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 Methylation 11p15; 7p12; 7q21; 14q32; 15q11; 20q13 Methylation Chr.11p15 (KCNQ1OT1 & H19) Methylation Chr.14 Methylation Chr.15q11 Methylation Chr.20 MFN2 Analysis Microdeletions MLPA MLH1 Analysis MPZ Analysis MSH2 Analysis MSH6 Analysis MTM1 Analysis MTMR2 Analysis Multi Locus Imprinting Disorders (MLID) MUSK Analysis MUTYH 2 founder mutations sequencing MUTYH Analysis MYOC Analysis NDRG1 Analysis NEFL Analysis NGF Analysis NGS Amyotrophic lateral sclerosis ALS NGS Aortic and arterial dilatation/dissection NGS Aortic and mitralis valve defects NGS Arrhythmia NGS Arthrogryposis NGS BAP1 – HCS panel NGS Breast and ovarian cancer – HCS panel NGS Brugada syndrome NGS Cardiomyopathy NGS Colorectal cancer panel polyposis NGS Cone-rod dystrophy and macula degeneration NGS Congenital Heart Defects NGS Congenital stationary nightblindness NGS Cornelia de Lange syndrome NGS Cowden syndrome NGS Cutis laxa and related disorders NGS Dementia risk factors NGS Dementia/ALS NGS Disorder of sex development DSD NGS Dyslipidemia NGS Ehlers-Danlos syndromes NGS Epilepsy NGS Fetal akinesia deformation sequence FADS NGS Gastric cancer – HCS-panel NGS Glaucoom NGS Hemophagocytic syndrome (HLH) NGS Hereditary cancer panel 1 NGS Hereditary cancer panel 2 NGS Hyperinsulinism NGS Hypothyroidism NGS Idiopathic pulmonary arterial hypertension NGS Intellectual disability NGS Interstitial lung disease ILD NGS Leber’s congenital amaurosis LCA NGS Lens luxation and related syndromes NGS Linkeropathies and related disorders NGS Long QT-syndrome NGS Lymphedema NGS Marfan syndrome and marfan-like disorders NGS Mendeliome NGS Microcephaly NGS MMR – HCS panel NGS Movement disorders NGS Muscle disorders NGS Neonatal diabetes mellitus NGS Neurodegeneration with brain iron accumulation NBIA NGS Neuropathy/Charcot Marie Tooth NGS Obesitome NGS Optic atrophy NGS Osteogenesis imperfecta and related disorders NGS Osteopetrosis and dense bone dysplasia NGS Pancreatic cancer – HCS panel NGS Parkinson NGS Pontocerebellar hypoplasia PCH NGS Porencephaly and other COL4A1-related disorders NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Primary ciliary dyskinesia PCD NGS Primary immunodeficiency PID NGS Prostate cancer – HCS panel NGS Renal cell carcinoma NGS Retinitis pigmentosa NGS Segmental overgrowth and Vascular malformations (somatic) NGS Skeletal Dysplasia NGS Stickler syndrome and related disorders NGS Sudden cardiac death NGS Treatable metabolic neurodegenerative disorders NGS Vascular malformations NGS Vision disorder Albinism NGS Vision disorder CSNB NGS White matter disease NIPBL Analysis NKX2-1 Analysis NKX2-5 Analysis NPC1 Analysis NPC2 Analysis NR1H4 Analysis NYX Analysis OCA2 Analysis OPA1 Analysis OPA3 Analysis OPTN Analysis OTX2 Analysis PALB2 Analysis PARK7 Analysis PAX6 Analysis PAX8 Del/Dup analysis PCD Volendam founder mutation PCH Volendam founder mutation 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 PRK2 (PARK2) 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 anemia 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 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