Amsterdam UMC Panels

NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C

Panel naam	Panel methode	Panel kwaliteit	Core-NL genen	CNV analyse	Genen
NGS Albinisme	Targeted NGS	A/C		Nee	33
NGS Amyotrofe Lateraal Sclerose ALS	WES-based NGS			Nee	38
NGS Aorta en arteriële dilatatie/dissectie	Targeted NGS	A/C	15	Ja	36
NGS Aortaklep en mitralisklep afwijkingen	Targeted NGS	A/C	2	Ja	10
NGS Aritmie	Targeted NGS	A		Ja	42
NGS Arthrogrypose	Targeted NGS	A		Ja	8
NGS BAP1 – HCS panel	Targeted NGS	C		Ja	1
NGS Bewegingsstoornissen	WES-based NGS			Nee	397
NGS Borst- en ovariumkanker – HCS panel	Targeted NGS	A		Ja	13
NGS Brugada syndrome	Targeted NGS	A		Ja	1
NGS Cardiomyopathie	Targeted NGS	A	36	Ja	59
NGS Chronisch lymfatische leukemie	Targeted NGS	A	12	Nee	14
NGS Cone-rod dystrophie en macula degeneratie	Targeted NGS	A/C		Nee	292
NGS Congenitale hartafwijkingen	WES-based NGS	C		Nee	61
NGS Congenitale stationaire nachtblindheid	Targeted NGS	A/C		Nee	22
NGS Cornelia de Lange	WES-based NGS			Nee	31
NGS Cowden syndroom	Targeted NGS	A		Ja	6
NGS Cutis laxa en gerelateerde aandoeningen	Targeted NGS	C		Ja	12
NGS Dementie/ALS	WES-based NGS	A/C	4	Nee	54
NGS Disorder of sex development DSD	WES-based NGS			Nee	85
NGS Dominante opticus atrofie	Targeted NGS	A/C		Nee	34
NGS Dyslipidemie	Targeted NGS	A		Ja	30
NGS Ehlers-Danlos syndromen	Targeted NGS	A/C	11	Ja	24
NGS Epilepsie	WES-based NGS			Nee	393
NGS Foetale akinesie-deformatiesequentie FADS	WES-based NGS			Nee	194
NGS Glaucoma	Targeted NGS	A/C		Nee	35
NGS Hemofagocytair syndroom (HLH)	WES-based NGS	C		Nee	10
NGS Hyperinsulinisme	WES-based NGS			Nee	15
NGS Hypothyreodie	Targeted NGS	A		Ja	80
NGS Idiopathische pulmonale arteriėle hypertensie	WES-based NGS	A/C	1	Nee	27
NGS Intellectual disability	WES-based NGS	C		Nee	1743
NGS Lange QT-syndroom	Targeted NGS	A		Ja	11
NGS Leber congenital amaurosis LCA	Targeted NGS	A/C		Nee	292
NGS Lens luxatie en gerelateerde syndromen	Targeted NGS	A/C	4	Ja	10
NGS Linkeropathieën en andere gerelateerde syndromen	Targeted NGS	C		Ja	16
NGS Lymphoedeem	Targeted NGS	A		Ja	51
NGS Maagkanker – HCS-panel	Targeted NGS	A		Ja	2
NGS Marfan syndroom en andere marfanachtige beelden	Targeted NGS	A/C	11	Ja	25
NGS Mendelioom	Wes-based NGS	C		Nee	5097
NGS Metabole aandoeningen	WES-based NGS	C		Nee	723
NGS Microcefalie	WES-based NGS			Nee	137
NGS MMR – HCS panel	Targeted NGS	A		Ja	4
NGS Neonatale diabetes-mellitus	WES-based NGS			Nee	21
NGS Neurodegeneration with brain iron accumulation NBIA	WES-based NGS	A/C	2	Nee	10
NGS Neuropathy/Charcot Marie Tooth	Targeted NGS	A/C		Nee	120
NGS Niercelcarcinoom	WES-based NGS			Nee	16
NGS Obesitas	Targeted NGS	A		Ja	17
NGS Oncopanel 1	WES-based NGS			Nee	63
NGS Oncopanel 2	WES-based NGS			Nee	155
NGS Osteogenesis imperfecta en gerelateerde aandoeningen	Targeted NGS	A/C	8	Ja	44
NGS Pancreaskanker – HCS panel	Targeted NGS	A		Ja	10
NGS Parkinson	WES-based NGS	A/C	5	Nee	46
NGS Polyposis	Targeted NGS	A	9	Ja	25
NGS Pontocerebellaire hypoplasie PCH	WES-based NGS			Nee	37
NGS Preconceptie panel	Targeted NGS	A		Ja	50
NGS Preconceptiepanel (tbv consanguine paren)	WES-based NGS	C		Nee	2360
NGS Primaire ciliaire dyskinesie PCD	WES-based NGS	A/C	2	Nee	39
NGS Primaire immunodeficientie PID	WES-based NGS	C		Nee	475
NGS Prostaatkanker – HCS panel	Targeted NGS	A		Ja	5
NGS Retinitis pigmentosa	Targeted NGS	A/C		Nee	419
NGS Segmentale overgroei / Vasculaire malformaties (somatisch)	Targeted NGS	A		Nee	23
NGS Skeletdysplasie	WES-based NGS	C		Nee	536
NGS Spieraandoeningen	WES-based NGS			Nee	172
NGS Stickler syndroom en gerelateerde aandoeningen	Targeted NGS	A/C	6	Ja	17
NGS Sudden cardiac death	Targeted NGS	A		Ja	54
NGS Vaatmalformaties	Targeted NGS	A		Ja	14
NGS Visus pakket Retinale genen	Targeted NGS	C		Nee	292
NGS Wittestofziekten	WES-based NGS			Nee	197
Sanger Blackfan-Diamond anemie	Sanger sequencing			Nee	22
Sanger panel Fanconi anemie	Sanger sequencing	A		Ja	6

Panel naam	Panel methode	Genen
Cardio Spoed panel	Sanger sequencing	6
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
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
APC Del/Dup analysis	MLPA	1
APC 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
BMPR1A 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	Sanger sequencing	1
CACNA1F Sequencing	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	Sanger sequencing	1
GRM6 Sequencing	Sanger sequencing	1
GRN 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
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 mutations 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	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
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
RNF43 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
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
SMAD4 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	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
XYLT1 Sequencing	Sanger sequencing	1