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Illumina TruSight Inherited Disease Sequencing Panel - Illumina
Recesívne dedičné ochorenia sa objavujú u významnej časti populácie a tvoria až 20 % detskej úmrtnosti vo svete. Tieto choroby sú dôsledkom patogénnych mutácií v kódujúcich exónoch a v hraničných oblastiach exón-intrón. TruSight Inherited Disease Sequencing panel od spoločnosti Illumina sa zameriava až na 552 génov v týchto špecifických regiónoch, čím umožňuje včas identifikovať a eliminovať výskyt týchto závažných recesívnych ochorení. Tento sekvenačný panel je kompatibilný s TruSight Rapid Capture kitom, čím spája kroky prípravy knižnice a kroky enrichmentu do jedného jednoduchého a rýchleho protokolu. Po príprave knižnice, ktorá trvá približne jeden a pol dňa, nasleduje sekvenácia na stolovom Illumina sekvenátore.
Základné špeficikácie k TruSight Inherited Disease Sequencing panelu:
- Panel obsahuje viac ako 30 000 prób, ktoré sú dlhé 80-mérov
- Próby zachytávajú až 8 801 exónov
- Množstvo vstupnej vzorky: 50 ng
- Panel cieli na 2,25 Mb ľudského genómu
- Príprava knižnice trvá 1,5 dňa
- Kompatibilita so stolovými Illumina sekvenátormi: MiniSeq, MiSeq a NextSeq séria
Zoznam génov TruSight Inherited Disease Sequencing panelu:
|
AAAS |
COX10 |
GLE1 |
NDUFAF4 |
SCO1 |
COL6A3 |
|
ABCA12 |
COX15 |
GNPTAB |
NDUFS3 |
SCO2 |
DOK7 |
|
ABCA3 |
COX6B1 |
GNRHR |
NDUFS4 |
SEPN1 |
G6PC |
|
ABCB11 |
CPS1 |
GPC3 |
NDUFS5 |
SFTPB |
HIBCH |
|
ABCB4 |
CPT1A |
GPR98 |
NDUFS6 |
SFTPC |
LMNA |
|
ABCC8 |
CPT2 |
GRIK2 |
NDUFS7 |
SGSH |
OXCT1 |
|
ABCD1 |
CRLF1 |
GSS |
NDUFS8 |
SH2D1A |
UBE3A |
|
ACAD9 |
CRTAP |
GTF2H5 |
NDUFV1 |
SHROOM4 |
|
|
ACADL |
CSTB |
GUSB |
NEB |
SIL1 |
|
|
ACADM |
CTNS |
HADH |
NEU1 |
SLC12A1 |
|
|
ACADVL |
CTSD |
HADHA |
NEUROG3 |
SLC12A6 |
|
|
ACAT1 |
CTSK |
HADHB |
NHEJ1 |
SLC16A2 |
|
|
ACOX1 |
CUL4B |
HAMP |
NHLRC1 |
SLC17A5 |
|
|
ACSL4 |
CYP11A1 |
HAX1 |
NHS |
SLC22A5 |
|
|
ADA |
CYP11B1 |
HBA1 |
NLGN4X |
SLC25A15 |
|
|
ADAMTS13 |
CYP17A1 |
HBB |
NPC1 |
SLC25A20 |
|
|
ADAMTSL2 |
CYP21A2 |
HESX1 |
NPC2 |
SLC25A22 |
|
|
ADCK3 |
CYP27A1 |
HEXA |
NPHP1 |
SLC26A2 |
|
|
AFF2 |
CYP27B1 |
HEXB |
NPHP3 |
SLC35A1 |
|
|
AGL |
DBT |
HFE2 |
NPHP4 |
SLC35C1 |
|
|
AGPS |
DCLRE1C |
HGSNAT |
NPHS1 |
SLC35D1 |
|
|
AGTR2 |
DCX |
HIBCH |
NPHS2 |
SLC37A4 |
|
|
AHI1 |
DDB2 |
HLCS |
NR5A1 |
SLC4A11 |
|
|
AIRE |
DDC |
HMGCL |
NSD1 |
SLC6A8 |
|
|
ALDH3A2 |
DGUOK |
HPD |
NSUN2 |
SLC9A6 |
|
|
ALDH5A1 |
DHCR24 |
HPRT1 |
NTRK1 |
SMN1 |
|
|
ALDH7A1 |
DHCR7 |
HSD11B2 |
NUP62 |
SMPD1 |
|
|
ALDOB |
DKC1 |
HSD17B10 |
NXF5 |
SMS |
|
|
ALG1 |
DLD |
HSD17B3 |
OCRL |
SNAP29 |
|
|
ALG12 |
DLG3 |
HSD17B4 |
OFD1 |
SOX3 |
|
|
ALG2 |
DLL3 |
HSD3B2 |
OPA3 |
SP110 |
|
|
ALG3 |
DMD |
HSPG2 |
OPHN1 |
SRD5A2 |
|
|
ALG6 |
DMP1 |
HUWE1 |
ORAI1 |
SRD5A3 |
|
|
ALG8 |
DNAJC19 |
ICOS |
OSTM1 |
ST3GAL3 |
|
|
ALG9 |
DNMT3B |
IDS |
OTC |
ST3GAL5 |
|
|
ALMS1 |
DOCK8 |
IDUA |
PAH |
STAR |
|
|
ALPL |
DOLK |
IFNGR1 |
PAK3 |
STAT1 |
|
|
ALS2 |
DPAGT1 |
IFNGR2 |
PANK2 |
STIM1 |
|
|
AMACR |
DPM1 |
IFT80 |
PC |
STRA6 |
|
|
AMT |
DPYD |
IGHMBP2 |
PCCA |
STX11 |
|
|
ANTXR2 |
DSP |
IKBKAP |
PCCB |
STXBP2 |
|
|
AP1S2 |
DYNC2H1 |
IKBKG |
PCDH19 |
SUCLA2 |
|
|
AP3B1 |
EDA |
IL12B |
PDHA1 |
SUCLG1 |
|
|
APTX |
EDN3 |
IL12RB1 |
PDHX |
SUOX |
|
|
AR |
EDNRB |
IL1RAPL1 |
PDP1 |
SURF1 |
|
|
ARHGEF6 |
EFEMP2 |
IL1RN |
PDSS1 |
SYP |
|
|
ARHGEF9 |
EFNB1 |
IL2RG |
PDSS2 |
TAT |
|
|
ARSA |
EGR2 |
INSR |
PEX1 |
TAZ |
|
|
ARSB |
EIF2AK3 |
INVS |
PEX10 |
TBCE |
|
|
ARSE |
ENPP1 |
IQCB1 |
PEX12 |
TCF4 |
|
|
ARX |
EPM2A |
ITGA6 |
PEX13 |
TCIRG1 |
|
|
ASL |
ERBB3 |
ITGB4 |
PEX26 |
TGM1 |
|
|
ASPA |
ERCC2 |
IVD |
PEX5 |
TH |
|
|
ASS1 |
ERCC3 |
JAK3 |
PEX7 |
TIMM8A |
|
|
ATM |
ERCC4 |
KCNJ1 |
PKHD1 |
TK2 |
|
|
ATP6V0A2 |
ERCC5 |
KDM5C |
PKLR |
TLR3 |
|
|
ATP7A |
ERCC6 |
L1CAM |
PLA2G6 |
TMEM67 |
|
|
ATP7B |
ERCC8 |
LAMA2 |
PLCE1 |
TNFRSF11B |
|
|
ATP8B1 |
ESCO2 |
LAMA3 |
PLDN |
TPP1 |
|
|
ATR |
ETFA |
LAMB2 |
PLEC |
TRAPPC9 |
|
|
ATRX |
ETFB |
LAMB3 |
PLEKHG5 |
TREX1 |
|
|
AUH |
ETFDH |
LAMC2 |
PLG |
TRIM37 |
|
|
B4GALT1 |
ETHE1 |
LARGE |
PLOD1 |
TSEN54 |
|
|
BCKDHA |
EVC |
LBR |
PLP1 |
TSFM |
|
|
BCKDHB |
EVC2 |
LEPRE1 |
PMM2 |
TSHB |
|
|
BCOR |
F8 |
LHCGR |
PMP22 |
TSPYL1 |
|
|
BCS1L |
F9 |
LHX3 |
PNPO |
TTPA |
|
|
BLM |
FAH |
LIFR |
POLG |
TUBA1A |
|
|
BRWD3 |
FAM126A |
LIG4 |
POMGNT1 |
TUFM |
|
|
BTD |
FAM20C |
LRP2 |
POMT1 |
TUSC3 |
|
|
BTK |
FANCC |
LRPPRC |
POMT2 |
TYK2 |
|
|
C10orf2 |
FAS |
LYST |
POR |
TYMP |
|
|
CA2 |
FASLG |
MAN2B1 |
POU1F1 |
UBA1 |
|
|
CASK |
FASTKD2 |
MBTPS2 |
PPT1 |
UBE2A |
|
|
CASP10 |
FBLN5 |
MCOLN1 |
PQBP1 |
UBE3A |
|
|
CBS |
FERMT3 |
MECP2 |
PRF1 |
UBR1 |
|
|
CD19 |
FGA |
MED12 |
PROP1 |
UNC13D |
|
|
CD247 |
FGD1 |
MEFV |
PRPS1 |
UNC93B1 |
|
|
CD3D |
FGD4 |
MFSD8 |
PRSS12 |
UPF3B |
|
|
CD3E |
FH |
MGAT2 |
PRX |
UQCRB |
|
|
CD3G |
FKRP |
MID1 |
PSAP |
UQCRQ |
|
|
CD40LG |
FKTN |
MKS1 |
PTEN |
UROS |
|
|
CDH23 |
FOLR1 |
MLC1 |
PTH1R |
USH1C |
|
|
CDKL5 |
FOXG1 |
MMAA |
PYGM |
USH1G |
|
|
CEP290 |
FOXN1 |
MMAB |
RAB23 |
USH2A |
|
|
CFP |
FOXP3 |
MMACHC |
RAB27A |
VDR |
|
|
CFTR |
FRAS1 |
MOCS1 |
RAB39B |
VIPAR |
|
|
CHRNA1 |
FREM2 |
MOCS2 |
RAB3GAP1 |
VLDLR |
|
|
CHRND |
FTSJ1 |
MOGS |
RAB3GAP2 |
VPS13B |
|
|
CHRNG |
FUCA1 |
MPDU1 |
RAG1 |
VPS33B |
|
|
CLCN5 |
G6PC3 |
MPI |
RAG2 |
WAS |
|
|
CLCN7 |
G6PD |
MPL |
RAPSN |
WNT10A |
|
|
CLDN1 |
GAA |
MPV17 |
RELN |
WNT3 |
|
|
CLDN19 |
GALC |
MPZ |
RFT1 |
WNT7A |
|
|
CLN3 |
GALK1 |
MRPS16 |
RMRP |
XIAP |
|
|
CLN5 |
GALT |
MRPS22 |
RNASEH2A |
XPA |
|
|
CLN6 |
GAMT |
MTM1 |
RNASEH2B |
XPC |
|
|
CLN8 |
GBA |
MUT |
RNASEH2C |
ZDHHC9 |
|
|
CLRN1 |
GBE1 |
MVK |
RPGRIP1L |
ZEB2 |
|
|
COG1 |
GCDH |
MYD88 |
RPL10 |
ZIC3 |
|
|
COG7 |
GCSH |
MYO5A |
RPS6KA3 |
ZMPSTE24 |
|
|
COG8 |
GDAP1 |
MYO7A |
RRM2B |
ZNF41 |
|
|
COL17A1 |
GDI1 |
NAGLU |
SACS |
ZNF469 |
|
|
COL4A3 |
GFM1 |
NAGS |
SAMHD1 |
ZNF674 |
|
|
COL4A4 |
GJB2 |
NBN |
SBDS |
ZNF711 |
|
|
COL4A5 |
GJC2 |
NDP |
SC5DL |
COL1A1 |
|
|
COL7A1 |
GLA |
NDUFA1 |
SCNN1A |
COL1A2 |
|
|
COQ2 |
GLB1 |
NDUFA7 |
SCNN1B |
COL6A1 |
|
|
COQ9 |
GLDC |
NDUFAF2 |
SCNN1G |
COL6A2 |
|
Vyžiadať informácie o:
Illumina TruSight Inherited Disease Sequencing Panel
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