https://www.genetica.cz
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TruSight Inherited Disease panel - Illumina
Detekce až 552 genů souvisejících s dědičným onemocněním.
Kit je určen pro MiniSeq, MiSeq a NextSeq.
Tento panel byl vyvinut ve spolupráci s Dr. Stephen Kingsmore a jeho týmem v laboratoři Children's Mercy Hospital (CMH) pro Pediatric Genomic Medicine a Dr. Carol Saunders a Dr. Hilger Ropers s Max Planck Institute
www.illumina.com/TruSight-inherited-disease
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AAAS |
CPS1 |
GSS |
NEU1 |
SLC17A5 |
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ABCA12 |
CPT1A |
GTF2H5 |
NEUROG3 |
SLC22A5 |
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ABCA3 |
CPT2 |
GUSB |
NHEJ1 |
SLC25A15 |
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ABCB11 |
CRLF1 |
HADH |
NHLRC1 |
SLC25A20 |
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ABCB4 |
CRTAP |
HADHA |
NHS |
SLC25A22 |
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ABCC8 |
CSTB |
HADHB |
NLGN4X |
SLC26A2 |
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ABCD1 |
CTNS |
HAMP |
NPC1 |
SLC35A1 |
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ACAD9 |
CTSD |
HAX1 |
NPC2 |
SLC35C1 |
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ACADL |
CTSK |
HBA1 |
NPHP1 |
SLC35D1 |
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ACADM |
CUL4B |
HBB |
NPHP3 |
SLC37A4 |
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ACADVL |
CYP11A1 |
HESX1 |
NPHP4 |
SLC4A11 |
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ACAT1 |
CYP11B1 |
HEXA |
NPHS1 |
SLC6A8 |
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ACOX1 |
CYP17A1 |
HEXB |
NPHS2 |
SLC9A6 |
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ACSL4 |
CYP21A2 |
HFE2 |
NR5A1 |
SMN1 |
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ADA |
CYP27A1 |
HGSNAT |
NSD1 |
SMPD1 |
|
ADAMTS13 |
CYP27B1 |
HIBCH |
NSUN2 |
SMS |
|
ADAMTSL2 |
DBT |
HLCS |
NTRK1 |
SNAP29 |
|
ADCK3 |
DCLRE1C |
HMGCL |
NUP62 |
SOX3 |
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AFF2 |
DCX |
HPD |
NXF5 |
SP110 |
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AGL |
DDB2 |
HPRT1 |
OCRL |
SRD5A2 |
|
AGPS |
DDC |
HSD11B2 |
OFD1 |
SRD5A3 |
|
AGTR2 |
DGUOK |
HSD17B10 |
OPA3 |
ST3GAL3 |
|
AHI1 |
DHCR24 |
HSD17B3 |
OPHN1 |
ST3GAL5 |
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AIRE |
DHCR7 |
HSD17B4 |
ORAI1 |
STAR |
|
ALDH3A2 |
DKC1 |
HSD3B2 |
OSTM1 |
STAT1 |
|
ALDH5A1 |
DLD |
HSPG2 |
OTC |
STIM1 |
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ALDH7A1 |
DLG3 |
HUWE1 |
PAH |
STRA6 |
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ALDOB |
DLL3 |
ICOS |
PAK3 |
STX11 |
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ALG1 |
DMD |
IDS |
PANK2 |
STXBP2 |
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ALG12 |
DMP1 |
IDUA |
PC |
SUCLA2 |
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ALG2 |
DNAJC19 |
IFNGR1 |
PCCA |
SUCLG1 |
|
ALG3 |
DNMT3B |
IFNGR2 |
PCCB |
SUOX |
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ALG6 |
DOCK8 |
IFT80 |
PCDH19 |
SURF1 |
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ALG8 |
DOLK |
IGHMBP2 |
PDHA1 |
SYP |
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ALG9 |
DPAGT1 |
IKBKAP |
PDHX |
TAT |
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ALMS1 |
DPM1 |
IKBKG |
PDP1 |
TAZ |
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ALPL |
DPYD |
IL12B |
PDSS1 |
TBCE |
|
ALS2 |
DSP |
IL12RB1 |
PDSS2 |
TCF4 |
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AMACR |
DYNC2H1 |
IL1RAPL1 |
PEX1 |
TCIRG1 |
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AMT |
EDA |
IL1RN |
PEX10 |
TGM1 |
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ANTXR2 |
EDN3 |
IL2RG |
PEX12 |
TH |
|
AP1S2 |
EDNRB |
INSR |
PEX13 |
TIMM8A |
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AP3B1 |
EFEMP2 |
INVS |
PEX26 |
TK2 |
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APTX |
EFNB1 |
IQCB1 |
PEX5 |
TLR3 |
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AR |
EGR2 |
ITGA6 |
PEX7 |
TMEM67 |
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ARHGEF6 |
EIF2AK3 |
ITGB4 |
PKHD1 |
TNFRSF11B |
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ARHGEF9 |
ENPP1 |
IVD |
PKLR |
TPP1 |
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ARSA |
EPM2A |
JAK3 |
PLA2G6 |
TRAPPC9 |
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ARSB |
ERBB3 |
KCNJ1 |
PLCE1 |
TREX1 |
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ARSE |
ERCC2 |
KDM5C |
PLDN |
TRIM37 |
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ARX |
ERCC3 |
L1CAM |
PLEC |
TSEN54 |
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ASL |
ERCC4 |
LAMA2 |
PLEKHG5 |
TSFM |
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ASPA |
ERCC5 |
LAMA3 |
PLG |
TSHB |
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ASS1 |
ERCC6 |
LAMB2 |
PLOD1 |
TSPYL1 |
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ATM |
ERCC8 |
LAMB3 |
PLP1 |
TTPA |
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ATP6V0A2 |
ESCO2 |
LAMC2 |
PMM2 |
TUBA1A |
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ATP7A |
ETFA |
LARGE |
PMP22 |
TUFM |
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ATP7B |
ETFB |
LBR |
PNPO |
TUSC3 |
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ATP8B1 |
ETFDH |
LEPRE1 |
POLG |
TYK2 |
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ATR |
ETHE1 |
LHCGR |
POMGNT1 |
TYMP |
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ATRX |
EVC |
LHX3 |
POMT1 |
UBA1 |
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AUH |
EVC2 |
LIFR |
POMT2 |
UBE2A |
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B4GALT1 |
F8 |
LIG4 |
POR |
UBE3A |
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BCKDHA |
F9 |
LRP2 |
POU1F1 |
UBR1 |
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BCKDHB |
FAH |
LRPPRC |
PPT1 |
UNC13D |
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BCOR |
FAM126A |
LYST |
PQBP1 |
UNC93B1 |
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BCS1L |
FAM20C |
MAN2B1 |
PRF1 |
UPF3B |
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BLM |
FANCC |
MBTPS2 |
PROP1 |
UQCRB |
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BRWD3 |
FAS |
MCOLN1 |
PRPS1 |
UQCRQ |
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BTD |
FASLG |
MECP2 |
PRSS12 |
UROS |
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BTK |
FASTKD2 |
MED12 |
PRX |
USH1C |
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C10orf2 |
FBLN5 |
MEFV |
PSAP |
USH1G |
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CA2 |
FERMT3 |
MFSD8 |
PTEN |
USH2A |
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CASK |
FGA |
MGAT2 |
PTH1R |
VDR |
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CASP10 |
FGD1 |
MID1 |
PYGM |
VIPAR |
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CBS |
FGD4 |
MKS1 |
RAB23 |
VLDLR |
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CD19 |
FH |
MLC1 |
RAB27A |
VPS13B |
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CD247 |
FKRP |
MMAA |
RAB39B |
VPS33B |
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CD3D |
FKTN |
MMAB |
RAB3GAP1 |
WAS |
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CD3E |
FOLR1 |
MMACHC |
RAB3GAP2 |
WNT10A |
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CD3G |
FOXG1 |
MOCS1 |
RAG1 |
WNT3 |
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CD40LG |
FOXN1 |
MOCS2 |
RAG2 |
WNT7A |
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CDH23 |
FOXP3 |
MOGS |
RAPSN |
XIAP |
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CDKL5 |
FRAS1 |
MPDU1 |
RELN |
XPA |
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CEP290 |
FREM2 |
MPI |
RFT1 |
XPC |
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CFP |
FTSJ1 |
MPL |
RMRP |
ZDHHC9 |
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CFTR |
FUCA1 |
MPV17 |
RNASEH2A |
ZEB2 |
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CHRNA1 |
G6PC3 |
MPZ |
RNASEH2B |
ZIC3 |
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CHRND |
G6PD |
MRPS16 |
RNASEH2C |
ZMPSTE24 |
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CHRNG |
GAA |
MRPS22 |
RPGRIP1L |
ZNF41 |
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CLCN5 |
GALC |
MTM1 |
RPL10 |
ZNF469 |
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CLCN7 |
GALK1 |
MUT |
RPS6KA3 |
ZNF674 |
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CLDN1 |
GALT |
MVK |
RRM2B |
ZNF711 |
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CLDN19 |
GAMT |
MYD88 |
SACS |
COL1A1 |
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CLN3 |
GBA |
MYO5A |
SAMHD1 |
COL1A2 |
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CLN5 |
GBE1 |
MYO7A |
SBDS |
COL6A1 |
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CLN6 |
GCDH |
NAGLU |
SC5DL |
COL6A2 |
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CLN8 |
GCSH |
NAGS |
SCNN1A |
COL6A3 |
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CLRN1 |
GDAP1 |
NBN |
SCNN1B |
DOK7 |
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COG1 |
GDI1 |
NDP |
SCNN1G |
G6PC |
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COG7 |
GFM1 |
NDUFA1 |
SCO1 |
HIBCH |
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COG8 |
GJB2 |
NDUFA7 |
SCO2 |
LMNA |
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COL17A1 |
GJC2 |
NDUFAF2 |
SEPN1 |
OXCT1 |
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COL4A3 |
GLA |
NDUFAF4 |
SFTPB |
UBE3A |
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COL4A4 |
GLB1 |
NDUFS3 |
SFTPC |
|
|
COL4A5 |
GLDC |
NDUFS4 |
SGSH |
|
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COL7A1 |
GLE1 |
NDUFS5 |
SH2D1A |
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|
COQ2 |
GNPTAB |
NDUFS6 |
SHROOM4 |
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|
COQ9 |
GNRHR |
NDUFS7 |
SIL1 |
|
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COX10 |
GPC3 |
NDUFS8 |
SLC12A1 |
|
|
COX15 |
GPR98 |
NDUFV1 |
SLC12A6 |
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COX6B1 |
GRIK2 |
NEB |
SLC16A2 |
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Související odkazy
