NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C
Panel naam | Panel methode | Genen |
---|---|---|
Chr. Y deleties | Fragment analysis | 0 |
Functionele trilhaartest PCD | Functional assay | 0 |
GNAS (Codon 201, 227) | Amplicon NGS | 1 |
GNAS CNV + Methylering | MeMLPA | 1 |
Methylering 11p15; 7p12; 7q21; 14q32; 15q11; 20q13 | MeMLPA | 0 |
Methylering Chr.11p15 (KCNQ1OT1 & H19) | MeMLPA | 2 |
Methylering Chr.14 | MeMLPA | 1 |
Methylering Chr.15q11 | MeMLPA | 1 |
Methylering Chr.20 | MeMLPA | 0 |
NGS Cardio Spoed panel | Wes-based NGS | 13 |
Prescreening Multi Locus UPD (MLUPD) | MeMLPA | 10 |
UPD | Genotyping | 0 |
UPD Chr.11p | Genotyping | 0 |
UPD Chr.14 | Genotyping | 0 |
UPD Chr.15 | Genotyping | 0 |
UPD Chr.20 | Genotyping | 0 |
UPD Chr.7 | Genotyping | 0 |
Panel naam | Panel methode | Genen |
---|---|---|
22q11 MLPA | MLPA | 0 |
ABCA3 Sequencing | Sanger sequencing | 1 |
ABCA4 Sequencing | Sanger sequencing | 1 |
ABCB11 Sequencing | Sanger sequencing | 1 |
ABCB4 Sequencing | Sanger sequencing | 1 |
ABCC2 Sequencing | Sanger sequencing | 1 |
ABCC6 Sequencing | Sanger sequencing | 1 |
ABCC8 Sequencing | Sanger sequencing | 1 |
ACVR1 Sequencing | Sanger sequencing | 1 |
ADA2 Sequencing | Sanger sequencing | 1 |
ADAR Sequencing | Sanger sequencing | 1 |
AIFM1 selected exon sequencing | Sanger sequencing | 1 |
AIMP1 Sequencing | Sanger sequencing | 1 |
ANG Sequencing | Sanger sequencing | 1 |
ANGPT1 Sequencing | Sanger sequencing | 1 |
APP Sequencing | Sanger sequencing | 1 |
ASPM Sequencing | Sanger sequencing | 1 |
ATP8B1 Sequencing | Sanger sequencing | 1 |
AUTS2 Sequencing | Sanger sequencing | 1 |
BEST1 Sequencing | Sanger sequencing | 1 |
BMPR2 Sequencing | Sanger sequencing | 1 |
BRIP1 Sequencing | Sanger sequencing | 1 |
BSCL2 Sequencing | Sanger sequencing | 1 |
C9ORF72 Repeat analysis | Repeat analysis | 1 |
CABP4 Sequencing (AR) | Sanger sequencing | 1 |
CACNA1F Sequencing (X-linked) | Sanger sequencing | 1 |
CASK Sequencing | Sanger sequencing | 1 |
CCBE1 Sequencing | Sanger sequencing | 1 |
CCDC114 Sequencing | Sanger sequencing | 1 |
CDKL5 Sequencing | Sanger sequencing | 1 |
CDKN1C Sequencing | Sanger sequencing | 1 |
CENPJ Sequencing | Sanger sequencing | 1 |
CFP Sequencing | Sanger sequencing | 1 |
CFTR Sequencing | Sanger sequencing | 1 |
CHMP2B Sequencing | Sanger sequencing | 1 |
CLCN2 Sequencing | Sanger sequencing | 1 |
CNGA3 Sequencing | Sanger sequencing | 1 |
CNGB3 Sequencing | Sanger sequencing | 1 |
COL10A1 Sequencing | Sanger sequencing | 1 |
COL1A1 Sequencing | Sanger sequencing | 1 |
COL1A2 Sequencing | Sanger sequencing | 1 |
COL3A1 Sequencing | Sanger sequencing | 1 |
COL4A1 Sequencing | Sanger sequencing | 1 |
COL4A2 Sequencing | Sanger sequencing | 1 |
CSF1R Sequencing | Sanger sequencing | 1 |
CTC1 Sequencing | Sanger sequencing | 1 |
CTDP1 Sequencing | Sanger sequencing | 1 |
CTSF Sequencing | Sanger sequencing | 1 |
CYB5R3 Sequencing | Sanger sequencing | 1 |
CYP11B1/CYP11B2 chimeric gene | Long segment PCR | 2 |
CYP1B1 Sequencing | Sanger sequencing | 1 |
DHH Sequencing | Sanger sequencing | 1 |
DJ-1 (PARK7) Sequencing | Sanger sequencing | 1 |
DNM2 Sequencing | Sanger sequencing | 1 |
DOCK8 Sequencing | Sanger sequencing | 1 |
DPP6 Genotyping | Genotyping | 1 |
DSP Sequencing | Sanger sequencing | 1 |
EGR2 Sequencing | Sanger sequencing | 1 |
ELANE Sequencing | Sanger sequencing | 1 |
ELN Sequencing | Sanger sequencing | 1 |
EMD Sequencing | Sanger sequencing | 1 |
ENPP1 Sequencing | Sanger sequencing | 1 |
ERF Sequencing | Sanger sequencing | 1 |
ESCO2 Sequencing | Sanger sequencing | 1 |
EXOSC3 Sequencing | Sanger sequencing | 1 |
F12 (Exon 9) Sequencing | Sanger sequencing | 1 |
F7 Sequencing | Sanger sequencing | 1 |
F8 Sequencing | Sanger sequencing | 1 |
FA2H Sequencing | Sanger sequencing | 1 |
FAM126A Sequencing | Sanger sequencing | 1 |
FANCA Sequencing | Sanger sequencing | 1 |
FANCB Sequencing | Sanger sequencing | 1 |
FANCC Sequencing | Sanger sequencing | 1 |
FANCE Sequencing | Sanger sequencing | 1 |
FANCF Sequencing | Sanger sequencing | 1 |
FANCG Sequencing | Sanger sequencing | 1 |
FANCI Sequencing | Sanger sequencing | 1 |
FANCL Sequencing | Sanger sequencing | 1 |
FAT4 Sequencing | Sanger sequencing | 1 |
FBN1 Sequencing | Sanger sequencing | 1 |
FGD4 Sequencing | Sanger sequencing | 1 |
FGFR1 Sequencing | Sanger sequencing | 1 |
FGFR2 Sequencing | Sanger sequencing | 1 |
FGFR3 Sequencing | Sanger sequencing | 1 |
FIG4 Sequencing | Sanger sequencing | 1 |
FLCN Sequencing | Sanger sequencing | 1 |
FLT4 Sequencing | Sanger sequencing | 1 |
FMR1-CGG Repeat Analysis | Repeat analysis | 1 |
FOXC1 Sequencing | Sanger sequencing | 1 |
FOXC2 Sequencing | Sanger sequencing | 1 |
FOXE1 Del/Dup analysis | MLPA | 1 |
FOXF1 Sequencing | Sanger sequencing | 1 |
FOXG1 Sequencing | Sanger sequencing | 1 |
FOXL2 Sequencing | Sanger sequencing | 1 |
FOXP3 Sequencing | Sanger sequencing | 1 |
FRMD7 Sequencing | Sanger sequencing | 1 |
FTL Sequencing | Sanger sequencing | 1 |
FUS Sequencing | Sanger sequencing | 1 |
G6PC3 Sequencing | Sanger sequencing | 1 |
GARS1 Sequencing | Sanger sequencing | 1 |
GATA1 Sequencing | Sanger sequencing | 1 |
GATA4 Sequencing | Sanger sequencing | 1 |
GBA Sequencing | Sanger sequencing | 1 |
GDAP1 Sequencing | Sanger sequencing | 1 |
GFI1 Sequencing | Sanger sequencing | 1 |
GGCX Sequencing | Sanger sequencing | 1 |
GJB1 Sequencing | Sanger sequencing | 1 |
GJC2 Sequencing | Sanger sequencing | 1 |
GJC2 Sequencing | Sanger sequencing | 1 |
GLA Del/Dup analysis | MLPA | 1 |
GLA Sequencing | Sanger sequencing | 1 |
GNAS Sequencing | Sanger sequencing | 1 |
GPC3 Sequencing | Sanger sequencing | 1 |
GPR143 Sequencing | Sanger sequencing | 1 |
GPR179 Sequencing (AR) | Sanger sequencing | 1 |
GRM6 Sequencing (AR) | Sanger sequencing | 1 |
GRN (PGRN) Sequencing | Sanger sequencing | 1 |
HCN4 Sequencing | Sanger sequencing | 1 |
HDAC8 Sequencing | Sanger sequencing | 1 |
HEPACAM Sequencing | Sanger sequencing | 1 |
HESX1 Del/Dup analysis | MLPA | 1 |
HEXA Sequencing | Sanger sequencing | 1 |
HOXB13 Sequencing | Sanger sequencing | 1 |
HPGD Sequencing | Sanger sequencing | 1 |
HSPB1 Sequencing | Sanger sequencing | 1 |
HSPB8 Sequencing | Sanger sequencing | 1 |
HSPB8 Sequencing (HMN) | Sanger sequencing | 1 |
HSPD1 Sequencing | Sanger sequencing | 1 |
IDS Sequencing | Sanger sequencing | 1 |
IFIH1 Sequencing | Sanger sequencing | 1 |
IGHMBP2 Sequencing | Sanger sequencing | 1 |
IRF6 Sequencing | Sanger sequencing | 1 |
ITGA3 Sequencing | Sanger sequencing | 1 |
KCNE1 Sequencing | Sanger sequencing | 1 |
KCNH2 Sequencing | Sanger sequencing | 1 |
KCNJ11 Sequencing | Sanger sequencing | 1 |
KCNJ5 Sequencing | Sanger sequencing | 1 |
KCNQ1 Sequencing | Sanger sequencing | 1 |
KLLN promotor Methylation analysis | MeMLPA | 1 |
LAMP2 Sequencing | Sanger sequencing | 1 |
LDLR Del/Dup analysis | MLPA | 1 |
LHX3 Del/Dup analysis | MLPA | 1 |
LHX4 Del/Dup analysis | MLPA | 1 |
LIFR Sequencing | Sanger sequencing | 1 |
LITAF Sequencing | Sanger sequencing | 1 |
LMNA Del/Dup analysis | MLPA | 1 |
LMNA Sequencing | Sanger sequencing | 1 |
LMNA Sequencing + CNV | Sanger sequencing | 1 |
LMNB1 MLPA | MLPA | 1 |
LRRK2 (PARK8) Sequencing | Sanger sequencing | 1 |
LRSAM1 Sequencing | Sanger sequencing | 1 |
MAPT Sequencing | Sanger sequencing | 1 |
MC4R Sequencing | Sanger sequencing | 1 |
MCPH1 Sequencing | Sanger sequencing | 1 |
MECP2 Sequencing | Sanger sequencing | 1 |
MFN2 Sequencing | Sanger sequencing | 1 |
Microdeleties MLPA | MLPA | 0 |
MLH1 Sequencing | Sanger sequencing | 1 |
MPZ Sequencing | Sanger sequencing | 1 |
MSH2 Sequencing | Sanger sequencing | 1 |
MSH6 Sequencing | Sanger sequencing | 1 |
MTM1 Sequencing | Sanger sequencing | 1 |
MTMR2 Sequencing | Sanger sequencing | 1 |
MUSK Sequencing | Sanger sequencing | 1 |
MUTYH 2 founder mutaties sequencing | Sanger sequencing | 1 |
MUTYH Sequencing | Sanger sequencing | 1 |
MYOC Sequencing | Sanger sequencing | 1 |
NDRG1 Sequencing | Sanger sequencing | 1 |
NEFL Sequencing | Sanger sequencing | 1 |
NGF Sequencing | Sanger sequencing | 1 |
NIPBL Sequencing | Sanger sequencing | 1 |
NKX2-1 Sequencing | Sanger sequencing | 1 |
NKX2-5 Sequencing | Sanger sequencing | 1 |
NPC1 Sequencing | Sanger sequencing | 1 |
NPC2 Sequencing | Sanger sequencing | 1 |
NR1H4 Sequencing | Sanger sequencing | 1 |
NYX Sequencing (X-linked) | Sanger sequencing | 1 |
OCA2 Sequencing | Sanger sequencing | 1 |
OPA1 Sequencing | Sanger sequencing | 1 |
OPA3 Sequencing | Sanger sequencing | 1 |
OPTN Sequencing | Sanger sequencing | 1 |
OTX2 Sequencing | Sanger sequencing | 1 |
PALB2 Sequencing | Sanger sequencing | 1 |
PARKIN (PARK2) Sequencing | Sanger sequencing | 1 |
PAX6 Sequencing | Sanger sequencing | 1 |
PAX8 Del/Dup analysis | MLPA | 1 |
PCD Volendamse founder mutatie | Sanger sequencing | 1 |
PCH Volendamse founder mutatie | Sanger sequencing | 1 |
PINK1 (PARK6) Sequencing | Sanger sequencing | 1 |
PITX2 Sequencing | Sanger sequencing | 1 |
PLG Sequencing | Sanger sequencing | 1 |
PLN Sequencing | Sanger sequencing | 1 |
PLP1 Del/Dup analysis | MLPA | 1 |
PLP1 Sequencing | Sanger sequencing | 1 |
PMP22 Del/Dup analysis | MLPA | 1 |
PMP22 Sequencing | Sanger sequencing | 1 |
PMP22 Sequencing | Sanger sequencing | 1 |
PMS2 Sequencing | Sanger sequencing | 1 |
POLR1C Sequencing | Sanger sequencing | 1 |
POLR3A Sequencing | Sanger sequencing | 1 |
POLR3B Sequencing | Sanger sequencing | 1 |
PORCN Sequencing | Sanger sequencing | 1 |
POU1F1 Del/Dup analysis | MLPA | 1 |
PRKAG2 Sequencing | Sanger sequencing | 1 |
PRKAR1A Sequencing | Sanger sequencing | 1 |
PRNP Sequencing | Sanger sequencing | 1 |
PROP1 Del/Dup analysis | MLPA | 1 |
PRPH2 Sequencing | Sanger sequencing | 1 |
PSEN1 Sequencing | Sanger sequencing | 1 |
PSEN2 Sequencing | Sanger sequencing | 1 |
PTCH1 Sequencing | Sanger sequencing | 1 |
PTEN Del/Dup analysis | MLPA | 1 |
PTEN Sequencing | Sanger sequencing | 1 |
PTH1R Sequencing | Sanger sequencing | 1 |
RAB23 Sequencing | Sanger sequencing | 1 |
RAB7A Sequencing | Sanger sequencing | 1 |
RAD51C Sequencing | Sanger sequencing | 1 |
RARS2 Sequencing | Sanger sequencing | 1 |
RASA1 Sequencing | Sanger sequencing | 1 |
RNASEH2A Sequencing | Sanger sequencing | 1 |
RNASEH2B Sequencing | Sanger sequencing | 1 |
RNASEH2C Sequencing | Sanger sequencing | 1 |
RNASET2 Sequencing | Sanger sequencing | 1 |
RP2 Sequencing | Sanger sequencing | 1 |
RPGR Sequencing | Sanger sequencing | 1 |
RPL11 Sequencing | Sanger sequencing | 1 |
RPL15 Sequencing | Sanger sequencing | 1 |
RPL17 Sequencing | Sanger sequencing | 1 |
RPL26 Sequencing | Sanger sequencing | 1 |
RPL27 Sequencing | Sanger sequencing | 1 |
RPL31 Sequencing | Sanger sequencing | 1 |
RPL35A Sequencing | Sanger sequencing | 1 |
RPL5 Sequencing | Sanger sequencing | 1 |
RPS10 Sequencing | Sanger sequencing | 1 |
RPS15A Sequencing | Sanger sequencing | 1 |
RPS17 Sequencing | Sanger sequencing | 1 |
RPS19 Sequencing | Sanger sequencing | 1 |
RPS24 Sequencing | Sanger sequencing | 1 |
RPS26 Sequencing | Sanger sequencing | 1 |
RPS27 Sequencing | Sanger sequencing | 1 |
RPS28 Sequencing | Sanger sequencing | 1 |
RPS29 Sequencing | Sanger sequencing | 1 |
RPS7 Sequencing | Sanger sequencing | 1 |
RPS8 Sequencing | Sanger sequencing | 1 |
RS1 Sequencing | Sanger sequencing | 1 |
SAMHD1 Sequencing | Sanger sequencing | 1 |
SBDS Sequencing | Sanger sequencing | 1 |
SEPTIN9 Sequencing | Sanger sequencing | 1 |
SERPING1 Sequencing | Sanger sequencing | 1 |
SETX Sequencing | Sanger sequencing | 1 |
SFTPB Sequencing | Sanger sequencing | 1 |
SFTPC Sequencing | Sanger sequencing | 1 |
SGCE Sequencing | Sanger sequencing | 1 |
SH3BP2 Sequencing | Sanger sequencing | 1 |
SH3TC2 Sequencing | Sanger sequencing | 1 |
SHANK3 Sequencing | Sanger sequencing | 1 |
SHOX Sequencing | Sanger sequencing | 1 |
SIX6 Sequencing | Sanger sequencing | 1 |
SLC26A4 Sequencing | Sanger sequencing | 1 |
SLC45A2 Sequencing | Sanger sequencing | 1 |
SLCO2A1 Sequencing | Sanger sequencing | 1 |
SMC1A Sequencing | Sanger sequencing | 1 |
SMPD1 Sequencing | Sanger sequencing | 1 |
SNCA (PARK1) Sequencing | Sanger sequencing | 1 |
SNORD118 Sequencing | Sanger sequencing | 1 |
SOD1 Sequencing | Sanger sequencing | 1 |
SOX18 Sequencing | Sanger sequencing | 1 |
SOX2 Sequencing | Sanger sequencing | 1 |
SPTLC1 Sequencing | Sanger sequencing | 1 |
STAT3 Sequencing | Sanger sequencing | 1 |
STIL Sequencing | Sanger sequencing | 1 |
STK11 Sequencing | Sanger sequencing | 1 |
TARDBP Sequencing | Sanger sequencing | 1 |
TAZ Sequencing | Sanger sequencing | 1 |
TBX5 Sequencing | Sanger sequencing | 1 |
TEK Sequencing | Sanger sequencing | 1 |
TGFB1 Sequencing | Sanger sequencing | 1 |
THAP1 Sequencing | Sanger sequencing | 1 |
THRB Sequencing | Sanger sequencing | 1 |
TMEM106B Sequencing | Sanger sequencing | 1 |
TMEM63A Sequencing | Sanger sequencing | 1 |
TOE1 Sequencing | Sanger sequencing | 1 |
TOR1A Sequencing | Sanger sequencing | 1 |
TP53 Sequencing | Sanger sequencing | 1 |
TPO Del/Dup analysis | MLPA | 1 |
TREX1 Sequencing | Sanger sequencing | 1 |
TRPM1 Sequencing (AR) | Sanger sequencing | 1 |
TRPM4 Sequencing | Sanger sequencing | 1 |
TRPS1 Sequencing | Sanger sequencing | 1 |
TRPV4 Sequencing | Sanger sequencing | 1 |
TSEN2 Sequencing | Sanger sequencing | 1 |
TSEN34 Sequencing | Sanger sequencing | 1 |
TSEN54 Sequencing | Sanger sequencing | 1 |
TSHR Sequencing | Sanger sequencing | 1 |
TSR2 Sequencing | Sanger sequencing | 1 |
TTR Sequencing | Sanger sequencing | 1 |
TUBB4A Sequencing | Sanger sequencing | 1 |
TWIST1 Sequencing | Sanger sequencing | 1 |
TYR Sequencing | Sanger sequencing | 1 |
UBE3A Sequencing | Sanger sequencing | 1 |
UFM1 Select exon sequencing | Sanger sequencing | 1 |
VCP Sequencing | Sanger sequencing | 1 |
VEGFC Sequencing | Sanger sequencing | 1 |
VRK1 Sequencing | Sanger sequencing | 1 |
WAS Sequencing | Sanger sequencing | 1 |
WBS MLPA | MLPA | 0 |
WDR62 Sequencing | Sanger sequencing | 1 |
WDR73 Sequencing | Sanger sequencing | 1 |
WNK1 Sequencing | Sanger sequencing | 1 |
WT1 Del/Dup analysis | MLPA | 1 |
WT1 sequencing | Sanger sequencing | 1 |
XYLT1 Sequencing | Sanger sequencing | 1 |