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	C		Ja	38
NGS Aorta en arteriële dilatatie/dissectie	Targeted NGS	A/C	16	Ja	32
NGS Aortaklep en mitralisklep afwijkingen	Targeted NGS	A/C	2	Ja	13
NGS Aritmie	Targeted NGS	A		Ja	51
NGS Arthrogrypose	Targeted NGS	A		Ja	8
NGS BAP1 – HCS panel	Targeted NGS	C		Ja	1
NGS Bewegingsstoornissen	WES-based NGS	C		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 Cone-rod dystrophie en macula degeneratie	Targeted NGS	A/C		Nee	311
NGS Congenitale hartafwijkingen	Wes-based NGS	C		Ja	95
NGS Congenitale stationaire nachtblindheid	Targeted NGS	A/C		Nee	22
NGS Cornelia de Lange	Wes-based NGS	C		Ja	31
NGS Cowden syndroom	Targeted NGS	A		Ja	6
NGS Cutis laxa en gerelateerde aandoeningen	Targeted NGS	A/C	1	Ja	17
NGS Dementie	WES-based NGS	C	4	Nee	98
NGS Dementie risicofactoren	Wes-based NGS	C		Nee	8
NGS Disorder of sex development DSD	Wes-based NGS	C		Ja	85
NGS Dominante opticus atrofie	Targeted NGS	A/C		Nee	34
NGS Dyslipidemie	Targeted NGS	A		Ja	29
NGS Ehlers-Danlos syndromen	Targeted NGS	A/C	11	Ja	25
NGS Epilepsie	Wes-based NGS	C		Ja	393
NGS Foetale akinesie-deformatiesequentie FADS	Wes-based NGS	C		Ja	194
NGS Glaucoom	Targeted NGS	A/C		Nee	35
NGS Hemofagocytair syndroom (HLH)	WES-based NGS	C		Ja	10
NGS Hyperinsulinisme	Wes-based NGS	C		Ja	15
NGS Hypothyreodie	Targeted NGS	A		Ja	80
NGS Idiopathische pulmonale arteriėle hypertensie (IPAH)	WES-based NGS	A/C	1	Nee	27
NGS Intellectual disability	WES-based NGS	C		Ja	1743
NGS Interstitiële longziekten ILD	Wes-based NGS	C		Ja	61
NGS Lange QT-syndroom	Targeted NGS	A		Ja	12
NGS Leber congenital amaurosis LCA	Targeted NGS	A/C		Nee	311
NGS Lens luxatie en gerelateerde syndromen	Targeted NGS	A/C	4	Ja	10
NGS Linkeropathieën en gerelateerde syndromen	Targeted NGS	C		Ja	16
NGS Lymfoedeem	Wes-based NGS	C		Ja	64
NGS Maagkanker – HCS-panel	Targeted NGS	A		Ja	2
NGS Marfan syndroom en andere marfanachtige beelden	Targeted NGS	A/C	13	Ja	29
NGS Mendelioom	Wes-based NGS	C		Ja	5097
NGS Metabole aandoeningen	WES-based NGS	C		Ja	723
NGS Microcefalie	Wes-based NGS	C		Ja	137
NGS MMR – HCS panel	Targeted NGS	A		Ja	4
NGS Neonatale diabetes-mellitus	Wes-based NGS	C		Ja	21
NGS Neurodegeneration with brain iron accumulation NBIA	WES-based NGS	C	2	Nee	10
NGS Neuropathy/Charcot Marie Tooth	Targeted NGS	A/C		Nee	120
NGS Niercelcarcinoom	Wes-based NGS	C		Nee	16
NGS Obesitas	Targeted NGS	A/C		Ja	27
NGS Oncopanel 1	Wes-based NGS	C		Nee	63
NGS Oncopanel 2	Wes-based NGS	C		Nee	155
NGS Osteogenesis imperfecta en gerelateerde aandoeningen	Targeted NGS	A/C	8	Ja	49
NGS Osteopetrose en gerelateerde botdysplasieën	WES-based NGS	C		Nee	59
NGS Pancreaskanker – HCS panel	Targeted NGS	A		Ja	10
NGS Parkinson	WES-based NGS	C	5	Nee	46
NGS Polyposis	Targeted NGS	A	9	Ja	25
NGS Pontocerebellaire hypoplasie PCH	Wes-based NGS	C		Ja	37
NGS Porencefalie en andere COL4A1-gerelateerde aandoeningen	Targeted NGS	A/C	2	Nee	3
NGS Preconceptiepanel	Targeted NGS	A		Ja	50
NGS Preconceptiepanel (t.b.v. consanguine paren)	Wes-based NGS	C		Nee	2360
NGS Primaire ciliaire dyskinesie PCD	Wes-based NGS	C	2	Nee	46
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	311
NGS Segmentale overgroei en Vasculaire malformaties (somatisch)	Targeted NGS	A		Nee	39
NGS Skeletdysplasie	WES-based NGS	C		Ja	571
NGS Spieraandoeningen	Wes-based NGS	C		Ja	172
NGS Stickler syndroom en gerelateerde aandoeningen	Targeted NGS	A/C	6	Ja	17
NGS Sudden cardiac death	Targeted NGS	A		Ja	65
NGS Visus pakket Retinale genen	Targeted NGS	C		Nee	311
NGS Wittestofziekten	Wes-based NGS	C		Ja	197
Sanger Blackfan-Diamond anemie	Sanger sequencing			Nee	22
Sanger panel Fanconi anemie	Sanger sequencing	A		Ja	6

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