NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C

Panel name Panel method Panel quality Core-NL genes CNV analysis Genes
NGS Amyotrophic lateral sclerosis ALS WES-based NGS No 38
NGS Aorta and arterial dilatation/dissection Targeted NGS A/C 15 Yes 33
NGS Aorta and mitralis valve defects Targeted NGS A/C 2 Yes 10
NGS Arrhythmia Targeted NGS A Yes 42
NGS Arthrogryposis Targeted NGS A Yes 8
NGS BAP1 – HCS panel Targeted NGS A Yes 1
NGS Blindness Albinism Targeted NGS A/C No 33
NGS Blindness CSNB Targeted NGS C No 292
NGS Breast and ovarian cancer – HCS panel Targeted NGS A Yes 13
NGS Brugada syndrome Targeted NGS A Yes 1
NGS Cardiomyopathy Targeted NGS A 36 Yes 59
NGS Chronic lymphatic leukemia Targeted NGS A 12 No 14
NGS Colorectal cancer panel polyposis Targeted NGS A 9 Yes 26
NGS Cone-rod dystrophy and macula degeneration Targeted NGS A/C No 292
NGS Congenital Heart Defects WES-based NGS C No 61
NGS Congenital stationary nightblindness Targeted NGS A/C No 22
NGS Cornelia de Lange syndrome WES-based NGS No 31
NGS Cowden syndrome Targeted NGS A Yes 6
NGS Cutis laxa and related disorders Targeted NGS C Yes 12
NGS Dementia/ALS WES-based NGS A/C 4 No 54
NGS Disorder of sex development DSD WES-based NGS No 85
NGS Dyslipidemia Targeted NGS A Yes 29
NGS Ehlers-Danlos syndromes Targeted NGS A/C 11 Yes 24
NGS Epilepsy WES-based NGS No 393
NGS Fetal akinesia deformation sequence FADS WES-based NGS No 194
NGS Gastric cancer – HCS-panel Targeted NGS A Yes 2
NGS Glaucoma Targeted NGS A/C No 35
NGS Hemophagocytic syndrome (HLH) WES-based NGS C No 10
NGS Hereditary cancer panel 1 WES-based NGS No 63
NGS Hereditary cancer panel 2 WES-based NGS No 155
NGS Hyperinsulinism WES-based NGS No 15
NGS Hypothyroidism Targeted NGS A Yes 77
NGS Idiopathic pulmonary arterial hypertension WES-based NGS A/C 1 No 27
NGS Intellectual disability WES-based NGS No 1537
NGS Leber’s congenital amaurosis LCA Targeted NGS A/C No 292
NGS Lens luxation and related syndromes Targeted NGS A/C 4 Yes 10
NGS Linkeropathies and EDS-related disorders Targeted NGS C Yes 16
NGS Long QT-syndrome Targeted NGS A Yes 11
NGS Lymphedema Targeted NGS A Yes 52
NGS Marfan syndrome and marfan-like disorders Targeted NGS A/C 11 Yes 25
NGS Microcephaly WES-based NGS No 137
NGS MMR – HCS panel Targeted NGS A Yes 4
NGS Movement disorders WES-based NGS No 397
NGS Muscle disorders WES-based NGS No 172
NGS Neonatal diabetes mellitus WES-based NGS No 21
NGS Neurodegeneration with brain iron accumulation NBIA WES-based NGS A/C 2 No 10
NGS Neuropathy Targeted NGS A/C No 121
NGS Obesitome Targeted NGS A Yes 17
NGS Optic atrophy Targeted NGS A/C No 34
NGS Osteogenesis imperfecta and related disorders Targeted NGS A/C 8 Yes 44
NGS Pancreatic cancer – HCS panel Targeted NGS A 1 Yes 10
NGS Parkinson WES-based NGS A/C 5 No 46
NGS Pontocerebellar hypoplasia PCH WES-based NGS No 37
NGS Preconception panel Targeted NGS A Yes 50
NGS Preconception panel (for consanguineous couples) WES-based NGS C No 2360
NGS Primary ciliary dyskinesia PCD WES-based NGS A/C 2 No 39
NGS Primary immunodeficiency PID WES-based NGS C No 559
NGS Prostate cancer – HCS panel Targeted NGS A Yes 4
NGS Renal cell carcinoma WES-based NGS No 16
NGS Retinitis pigmentosa Targeted NGS A/C No 419
NGS Segmental overgrowth disorders Targeted NGS A No 22
NGS Skeletal Dysplasia WES-based NGS C No 536
NGS Stickler syndrome and related disorders Targeted NGS A/C 6 Yes 17
NGS Sudden cardiac death Targeted NGS A Yes 54
NGS Treatable metabolic neurodegenerative disorders WES-based NGS C No 723
NGS Vascular malformations Targeted NGS A Yes 30
NGS White matter disease WES-based NGS No 197
Sanger Blackfan-Diamond anemia Sanger sequencing No 22
Sanger Fanconi anemia Sanger sequencing A No 6
Panel name Panel method Genes
Cardio expedited panel Sanger sequencing 6
Chr. Y deletions Fragment analysis 0
Ciliary functional analysis PCD Functional assay 0
EpiSign complete EpiSign 60
EpiSign complete early onset EpiSign 60
EpiSign targeted EpiSign 60
GNAS (Codon 201, 227) Amplicon NGS 1
Methylation 11p15; 7p12; 7q21; 14q32; 15q11; 20q13 MeMLPA 0
Methylation Chr.11p15 (KCNQ1OT1 & H19) MeMLPA 2
Methylation Chr.14 MeMLPA 1
Methylation Chr.15q11 MeMLPA 1
Methylation 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 name Panel method Genes
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
CYB5R3 Sequencing Sanger sequencing 1
CYP11B1/CYP11B1B2 chimeric gene Long segment PCR 2
CYP1B1 Sequencing Sanger sequencing 1
DHH 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
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
PARK7 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
PRK2 (PARK2) Sequencing Sanger sequencing 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
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