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G-Mendeliome Disease-Specific Panel

Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage

Overview
Features & Benefits
Specification
Related Products
Resources
References
Overview
Features & Benefits
Specification
Related Products
Resources
References

Overview

G-Mendeliome Disease-specific 패널을 통해 최대 17개 유전 질환에 대한 검사를 한 번에 수행할 수 있습니다

Celemics’ G-Mendeliome Disease-specific 패널은 Cardiology, Neurology, Cancer 등 다양한 분야의 17개 유전질환에 연관 있는 유전자들을 검사하기 위한 개별 패널을 모은 것입니다. 

유수의 수탁검사기관과의 협업으로 활용도 높도록 개발하였으며, Gene Add-on 서비스를 통해 원하는 유전자를 추가하여 연구자들 개개인의 연구 목적에 맞춰 보다 폭넓게 사용할 수 있습니다. BI 분석 서비스를 통해 손쉽게 분석 결과를 받을 수 있습니다.

Disease Specific

Features & Benefits

다양한 유전 질환 관련 유전자 포함

본 패널을 다음과 같은 유전 질환과 연관 있는 것으로 알려진 유전자들을 포함하고 있습니다.: AML, ALL, Multiple Myeloma, Lymphoma, Hearing Loss, Hereditary Cancer Syndrome, Arrhythmia, Cardiomyopathy, Muscular Dystrophy, Charcot-marie-tooth, Spastic Paraplegia, Myopathy, Ataxia, Epilepsy, Parkinson, Alzheimer, Dementia, 및 Dystonia.

Disease Specific

유수의 수탁검사기관과의 협업으로 개발

본 패널들은 진단에 활용하기 위한 목적으로 국내 유수의 수탁검사기관과 협업하여 개발하였습니다. 총 17개 유전 질환에 대한 연관 유전자들을 검사하기 위한 패널로 내부 테스트에서 95% 이상의 민감도와 99.5% 이상의 특이도를 보인 우수한 패널을 공급합니다. 

Disease Specific

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count* 14 - 293 genes
Covered region Whole CDS, hotspots
Target size 37.5 - 1,160 kb
Mutation type SNV, Indel, CNV
Sample type Differs by somatic or germline panel
Platform All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore
Bioinformatics Support ① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel
③ Tertiary Analysis: Clinical interpretation

List of Panels for various diseases

The contained genes of each specific disease panel are shown in the table below. If the panel does not contains genes of interest, customers can add those genes through our additional service. Please contact us for more information.

Panel Name Related Diseases Gene List

Alzheimer-Parkinson-
Dementia Panel

(77 genes, 244.8 kb)

 Alzheimer’s disease,
Parkinson’s disease,
Dementia, Dystonia		 ABCA7 ADCY5 ALS2 ANG ANO3 APP ATP13A2 ATP1A3 ATP7B
C19orf12 CACNA1B CHCHD10 CHMP2B CHRNA4 CIZ1 COL6A3 DAO DCTN1
FIG4 FUS GBA GCH1 GNAL GNAO1 GRN HNRNPA1 HNRNPA2B1
HPCA KCTD17 KMT2B LRRK2 MAPT MATR3 MECR NEK1 OPTN
PANK2 PARK7 PINK1 PLA2G6 PNKD PRKN PRKRA PRNP PRRT2
PSEN1 PSEN2 RELN SETX SGCE SIGMAR1 SLC19A3 SLC2A1 SLC30A10
SLC6A3 SNCA SOD1 SORL1 SPG11 SQSTM1 SRY TAF1 TAF15
TARDBP TBK1 TH THAP1 TIMM8A TOR1A TREM2 TUBA4A TUBB4A
UBQLN2 VAC14 VAPB VCP VPS13A        
Panel Name Related Diseases Gene List
Bleeding Disorder-
Coagulopathy Panel
(115 genes, 326.3 Kb)		 Bleeding Disorder,
Coagulation		 ABCA1 ACTN1 ANKRD26 ANO6 AP3B1 BLOC1S3 BLOC1S6 BRCA1 BRCA2
BRIP1 CD36 CDAN1 CYCS DDX41 DKC1 DTNBP1 ELANE ERCC4
ETV6 F10 F11 F13A1 F13B F2 F5 F7 F8
F9 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI
FANCL FANCM FERMT2 FGA FGB FGG FLI1 FYB1 GATA1
GATA2 GFI1 GFI1B GP1BA GP1BB GP6 GP9 HAX1 HOXA11
HPS1 HPS3 HPS4 HPS5 HPS6 IFNG ITGA2B ITGB3 LMAN1
LYST MASTL MCFD2 MLPH MPL MYH9 MYO5A NBEAL2 NBN
NHP2 NOP10 P2RY12 PALB2 PLA2G4A PLAU PRF1 PRKACG RAB27A
RAD51C RASGRP2 RBM8A RPL11 RPL35A RPL5 RPS10 RPS19 RPS24
RPS26 RPS7 RUNX1 SBDS SEC23B SERPINE1 SERPINF2 SLFN14 SLX4
SRC SRP72 SRY STIM1 TBXA2R TBXAS1 TERC TERT TINF2
UBE2T VIPAS39 VPS33B VWF WAS WIPF1 XRCC2    
Panel Name Related Diseases Gene List
Cardiovascular Panel
(174 genes, 681.3 Kb)		 Cardiac diseases ABCC9 ABCG5 ABCG8 ACTA1 ACTA2 ACTC1 ACTN2 AKAP9 ALMS1
ANK2 ANKRD1 APOA4 APOA5 APOB APOC2 APOE BAG3 BRAF
CACNA1C CACNA2D1 CACNB2 CALM1 CALR3 CASQ2 CAV3 CBL CBS
CETP COL3A1 COL5A1 COL5A2 COX15 CREB3L3 CRELD1 CRYAB CSRP3
CTF1 DES DMD DNAJC19 DOLK DPP6 DSC2 DSG2 DSP
DTNA EFEMP2 ELN EMD EYA4 FBN1 FBN2 FHL1 FHL2
FKRP FKTN FXN GAA GATAD1 GCKR GJA5 GLA GPD1L
GPIHBP1 HADHA HCN4 HFE HRAS HSPB8 ILK JAG1 JPH2
JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5
KCNJ8 KCNQ1 KLF10 KRAS LAMA2 LAMA4 LAMP2 LDB3 LDLR
LDLRAP1 LMF1 LMNA LPL LTBP2 MAP2K1 MAP2K2 MIB1 MURC
MYBPC3 MYH11 MYH6 MYH7 MYL2 MYL3 MYLK MYLK2 MYO6
MYOZ2 MYPN NEXN NKX2-5 NODAL NOTCH1 NPPA NRAS PCSK9
PDLIM3 PKP2 PLN PRDM16 PRKAG2 PRKAR1A PTPN11 RAF1 RANGRF
RBM20 RYR1 RYR2 SALL4 SCN1B SCN2B SCN3B SCN4B SCN5A
SCO2 SDHA SEPN1 SGCB SGCD SGCG SHOC2 SLC25A4 SLC2A10
SMAD3 SMAD4 SNTA1 SOS1 SREBF2 TAZ TBX20 TBX3 TBX5
TCAP TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM43 TMPO TNNC1 TNNI3
TNNT2 TPM1 TRDN TRIM63 TRPM4 TTN TTR TXNRD2 VCL
ZBTB17 ZHX3 ZIC3            
Panel Name Related Diseases Gene List
Common Hereditary
Cancer Panel
(61 genes, 218 Kb)		 Medical checkup APC ATM ATRX BARD1 BMPR1A BRAF BRCA1 BRCA2 BRIP1
CDH1 CDKN2A CHEK2 EGLN1 EGLN2 EPAS1 EPCAM FGFR1 FH
H3F3A HRAS IDH2 KIF1B KMT2D MAX MDH2 MEN1 MERTK
MET MLH1 MRE11 MSH2 MSH6 MUTYH NBN NF1 NF2
PALB2 PMS2 POLD1 POLE PRSS1 PTEN RAD50 RAD51C RAD51D
RB1 RET SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SPINK1
STK11 TMEM127 TP53 TSC1 TSC2 VHL WT1    
Panel Name Related Diseases Gene List
Epilepsy Panel
(119 genes, 401.6 Kb)		 Epilepsy AARS ADGRV1 ADSL ALDH7A1 ALG13 ARHGEF15 ARHGEF9 ARX ASAH1
ATP1A2 ATP6AP2 CACNA1A CASK CDKL5 CHD2 CHRNA2 CHRNA4 CHRNA7
CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLN8 CNTNAP2 CSTB CTSD
DCX DEPDC5 DLG3 DNAJC5 DNM1 DOCK7 DYRK1A EEF1A2 EPM2A
FOLR1 FOXG1 GABRA1 GABRA2 GABRB3 GABRG2 GAMT GATM GNAO1
GOSR2 GRIN1 GRIN2A GRIN2B HCN1 HDAC4 HNRNPU IQSEC2 KANSL1
KCNA2 KCNB1 KCNH5 KCNJ10 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD7
LGI1 MAGI2 MBD5 MECP2 MEF2C MFSD8 NECAP1 NHLRC1 NR2F1
NRXN1 PCDH19 PIGA PIGO PIGQ PIGV PLCB1 PNKP PNPO
POLG PPT1 PRICKLE1 PRICKLE2 PRRT2 QARS RELN SCARB2 SCN1A
SCN1B SCN2A SCN8A SCN9A SLC13A5 SLC25A22 SLC2A1 SLC35A2 SLC6A8
SLC9A6 SMS SPTAN1 SRPX2 SRY ST3GAL3 STXBP1 SYN1 SYNGAP1
SYNJ1 SZT2 TBC1D24 TCF4 TPP1 TSC1 TSC2 UBE3A WDR45
WWOX ZEB2              
Panel Name Related Diseases Gene List
Hearing Loss-Deafness
Panel
(30 genes, 130.3 Kb)		 Hearing loss,
Deafness		 CDH23 CLRN1 COCH COL11A1 COL2A1 DIAPH1 EDNRB EYA1 GJB2
GJB6 KCNE1 KCNQ1 KCNQ4 MITF MYO15A MYO7A OTOF PAX3
POU3F4 SIX5 SLC26A4 SNAI2 SOX10 TECTA TMC1 TMIE TMPRSS3
USH1C USH2A WFS1            
Panel Name Related Diseases Gene List
Lymphoid Leukemia
Panel
(62 genes, 139.9 Kb)		 Acute lymphatic
leukemia		 ABL1 AMELX AMELY ARHGAP35 BRAF BTG1 CDKN2A COL4A4 CPNE1
CREBBP CRLF2 DNM2 DNMT3A EP300 ETV6 EZH2 FBXW7 FLT3
GATA3 IDH1 IDH2 IKZF1 IL7R JAK1 JAK2 JAK3 KDM6A
KIAA1244 KMT2A KMT2D KRAS LEF1 LMO1 MAPK1 NF1 NOTCH1
NRAS NSD2 NT5C2 NUDT15 PAX5 PCNXL2 PHF6 PRUNE2 PTEN
PTPN11 RB1 RIPK3 RUNX1 SETD2 SH2B3 SP4 SRY STAG2
STAT3 STAT5B TBL1XR1 TCF3 TP53 TPMT USP6NL WT1
Panel Name Related Diseases Gene List
Lymphoma Panel
(51 genes, 118.3 Kb)		 Lymphoma ALK ATM B2M BCL6 BIRC3 BRAF BTK CARD11 CD79A
CD79B CREBBP CXCR4 EGR2 EP300 EZH2 FAS FAT4 FBXO11
ID3 IDH2 IKBKB IKZF1 JAK3 KLF2 MYC MYD88 NFKBIE
NOTCH1 NOTCH2 PLCG1 PLCG2 POT1 PRDM1 RHOA RPS15 RRAGC
SF3B1 SOCS1 SRY STAT3 STAT5B TBL1XR1 TCF3 TET2 TNFAIP3
TNFRSF14 TP53 TP63 TRAF3 UBR5 XPO1      
Panel Name Related Diseases Gene List
Lysosomal Storage
Diseases Panel
(86 genes, 195.9 Kb)		 Lysosomal storage
disease		 ABCD1 ACOX1 AGA AGL ALDOA ALDOB ARSA ARSB ATP13A2
ATP7A ATP7B CLN3 CLN5 CLN6 CLN8 CTNS CTSA CTSD
CTSF DNAJC5 FUCA1 G6PC GAA GALC GALE GALK1 GALK2
GALNS GALT GBA GBE1 GJB2 GLA GLB1 GNPTAB GNPTG
GNS GRN GUSB GYS1 GYS2 HEXA HEXB HGSNAT HPRT1
HYAL1 IDS IDUA KCTD7 LDHA LIPA MAN2B1 MANBA MCOLN1
MFSD8 NAGA NAGLU NEU1 NPC1 NPC2 PEX1 PEX10 PEX12
PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6
PFKM PHKA2 PHKB PHKG2 PPT1 PYGL PYGM SGSH SLC17A5
SLC2A2 SLC37A4 SMPD1 SUMF1 TPP1        
Panel Name Related Diseases Gene List
Metabolic Disorders
Panel
(71 genes, 138.3 Kb)		 Inborn errors of matabolism ABCD1 ACAD8 ACADM ACADS ACADSB ACADVL ACAT1 AHCY ARG1
ASL ASS1 AUH BCKDHA BCKDHB BTD CBS CPS1 CPT1A
CPT2 DBT DECR1 DHCR7 DLD ETFA ETFB ETFDH FAH
GALE GALK1 GALT GAMT GATM GCDH GCH1 GNMT HADH
HADHA HADHB HLCS HMGCL HPD HSD17B10 IVD LMBRD1 MAT1A
MCCC1 MCCC2 MLYCD MMAA MMAB MMACHC MMADHC MMUT MTHFR
MTR MTRR OPA3 OTC PAH PCBD1 PCCA PCCB PTS
QDPR SLC22A5 SLC25A13 SLC25A20 SLC6A8 TAT TAZ TCN2  
Panel Name Related Diseases Gene List
Myeloid Leukemia
Panel
(49 genes, 94.8 Kb)		 Acute myeloid
leukemia		 ANKRD26 ASXL1 ATRX BCOR BCORL1 BRAF CALR CBL CBLB
CEBPA CSF3R DDX41 DNMT3A ETV6 EZH2 FLT3 GATA1 GATA2
HRAS IDH1 IDH2 JAK2 JAK3 KDM6A KIT KRAS MPL
NOTCH1 NPM1 NRAS PDGFRA PHF6 PPM1D PTPN11 RAD21 RUNX1
SETBP1 SF3B1 SMC1A SMC3 SRSF2 STAG1 STAG2 STAT3 TET2
TP53 U2AF1 WT1 ZRSR2          
Panel Name Related Diseases Gene List
Neuromuscular Panel
(293 genes, 1,160 Kb)		 Neuromuscular
disease		 AARS ABCB7 ABCD1 ABHD12 ACAD9 ACADL ACADM ACO2 ACTA1
ADCK3 AFG3L2 AGL AIFM1 ALDH3A2 AMPD1 ANO10 ANO5 AP4B1
AP4E1 AP4M1 AP4S1 AP5Z1 APTX ARSA ATCAY ATL1 ATM
ATP2A1 ATP7A ATP7B ATP8A2 BAG3 BEAN1 BIN1 BSCL2 C10orf2
C12orf65 C19orf12 CACNA1A CACNA1S CACNB4 CAPN3 CASK CAV3 CCDC78
CCDC88C CFL2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN1
CLCN2 CLN5 CNTN1 COL6A1 COL6A2 COL6A3 COLQ CPT1B CPT2
CRYAB CTDP1 CWF19L1 CYP27A1 CYP2U1 CYP7B1 DAG1 DCTN1 DDHD1
DDHD2 DES DMD DNAJB2 DNAJB6 DNM2 DNMT1 DOK7 DYNC1H1
DYSF EEF2 EGR2 ELOVL4 ELOVL5 EMD ERLIN2 ETFA ETFB
FA2H FAM134B FGD4 FGF14 FHL1 FIG4 FKRP FKTN FLNC
FLVCR1 FRMD7 FUS FXN GAA GAD1 GALC GAN GARS
GBA2 GDAP1 GJB1 GJC2 GLA GLE1 GNB4 GNE GOSR2
GPR143 GRID2 GRM1 GYS1 HADHA HADHB HINT1 HOXD10 HSPB1
HSPB8 HSPD1 HSPG2 IGHMBP2 IKBKAP ISPD ITGA7 ITPR1 JPH3
KBTBD13 KCNA1 KCNC3 KCND3 KCNE3 KCNJ10 KCNJ18 KIAA0196 KIF1A
KIF1B KIF1C KIF5A KLHL40 KLHL41 L1CAM LAMA1 LAMA2 LARGE
LDB3 LITAF LMNA LPIN1 LRSAM1 MARS MARS2 MATR3 MED25
MFN2 MPZ MRE11A MTM1 MTMR14 MTMR2 MTPAP MTTP MUSK
MYF6 MYOT NDRG1 NEB NEFL NGF NIPA1 NOP56 NTRK1
OPA1 OPA3 OPHN1 PABPN1 PANK2 PDK3 PDYN PEX7 PFKM
PGAM2 PHKA1 PHYH PLEC PLEKHG5 PLP1 PMM2 PMP22 PNKP
PNPLA6 POLG POLG2 POMGNT1 POMT1 POMT2 PRKCG PRPS1 PRX
PTF1A PTRF PYGM RAB7A RAPSN REEP1 RNF216 RRM2B RTN2
RUBCN RYR1 RYR2 SACS SBF2 SCN4A SCN9A SEPN1 SETX
SGCA SGCB SGCD SGCE SGCG SH3TC2 SIL1 SLC12A6 SLC16A2
SLC1A3 SLC33A1 SLC39A4 SLC52A2 SLC9A1 SLC9A6 SMN1 SNX14 SOD1
SPAST SPG11 SPG20 SPG21 SPG7 SPTBN2 SPTLC1 SPTLC2 STAC3
STUB1 SUCLA2 SYNE1 SYNE2 SYT14 TBP TCAP TDP1 TECPR2
TGM6 TK2 TMEM240 TNNI2 TNNT1 TPM2 TPM3 TPP1 TRIM32
TRPV4 TTBK2 TTN TTPA TTR TUBB4A TYMP VAMP1 VCP
VLDLR VPS13A VPS37A VRK1 WFS1 WNK1 WWOX XK YARS
ZFYVE26 ZFYVE27 ZNF592            
Panel Name Related Diseases Gene List
RASopathy Panel
(14 genes, 37.5 Kb)		 RASopathies BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11
RAF1 RIT1 SHOC2 SOS1 SPRED1        
Panel Name Related Diseases Gene List
Retinitis Pigmentosa
Panel
(111 genes, 325.3 Kb)		 Retinitis pigmentosa ABCA4 ABHD12 ADAM9 ADGRA3 AGBL5 AIPL1 ARHGEF18 ARL2BP ARL3
ARL6 BBS1 BBS2 BEST1 C2orf71 C8orf37 CA4 CABP4 CACNA1F
CACNA2D4 CDHR1 CERKL CLRN1 CNGA1 CNGB1 CNGB3 CNNM4 CRB1
CRX CWC27 CYP4V2 DHDDS DHX38 ELOVL4 EMC1 EYS FAM161A
FLVCR1 FSCN2 GNAT2 GUCA1A GUCA1B GUCY2D HGSNAT HK1 IDH3B
IFT140 IFT172 IMPDH1 IMPG2 KCNV2 KIAA1549 KIZ KLHL7 LRAT
MAK MERTK MVK NEK2 NEUROD1 NR2E3 NRL OFD1 PDE6A
PDE6B PDE6C PDE6G PDE6H PITPNM3 POMGNT1 PRCD PRKCG PROM1
PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAB28 RAX2 RBP3
RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1
ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SEMA4A
SLC7A14 SNRNP200 SPATA7 SPP2 TOPORS TRNT1 TTC8 TULP1 UNC119
USH2A ZNF408 ZNF513            
Panel Name Related Diseases Gene List
Short Stature Panel
(162 genes, 616.1 Kb)		 Short stature ACTA2 ADAMTS10 ADAMTS2 ADAMTSL4 AGPS ALPL ARSE ATP6V0A2 ATP7A
ATRX B3GALT6 B4GALT7 BGN BLM BRAF CBL CBS CDC6
CDT1 CHST14 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1
COL5A2 COL9A1 COL9A2 COL9A3 COMP CREBBP CRTAP CTSK CUL7
DHCR7 DLL3 DYNC2H1 DYRK1A EBP EFEMP2 ELN EP300 ERCC6
ERCC8 EVC EVC2 EXT1 EXT2 FBLN5 FBN1 FBN2 FGD1
FGF23 FGFR1 FGFR2 FGFR3 FKBP10 FLNA FLNB FOXE3 GH1
GHR GHRHR GLI2 GLI3 GNAS GNPAT HESX1 HRAS HSPG2
IFITM5 IFT80 IGF1 IGF1R INPPL1 KCNJ2 KCNJ8 KDM6A KMT2D
KRAS LBR LHX3 LIFR LOX LTBP2 LZTR1 MAP2K1 MAP2K2
MAT2A MATN3 MED12 MFAP5 MYH11 MYLK NBAS NBN NEK1
NF1 NIPBL NRAS NSDHL OBSL1 ORC1 ORC4 ORC6 P3H1
PCNT PEX7 PHEX PLOD1 POR POU1F1 PPIB PPP1CB PRKG1
PROP1 PTPN11 PYCR1 RAF1 RIN2 RIT1 RMRP ROR2 RPS6KA3
RUNX2 SBDS SERPINH1 SHOC2 SKI SLC26A2 SLC2A10 SLC34A3 SLC35D1
SLC39A13 SMAD3 SMARCAL1 SMC1A SMC3 SMS SOS1 SOS2 SOX3
SOX9 SPRED1 SRCAP SRY TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
THRB TRIM37 TRIP11 TRPS1 TRPV4 TTC21B WDR19 WDR35 WRN
Panel Name Related Diseases Gene List
Skin Disorder Panel
(152 genes, 545.7 Kb)		 Skin diseases ABCA12 ABCB6 ABCC6 ABHD5 ADAMTS2 ADAR ALAD ALAS2 ALDH3A2
ALOX12B ALOXE3 AP1S1 ATM ATP2A2 ATP2C1 ATP6V0A2 BLM CARD14
CDH3 CDSN CLDN1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
COL7A1 CPOX CTC1 CTSC CYP4F22 DDB2 DKC1 DOCK8 DSG1
DSG4 DSP DST EBP ECM1 EDA EDAR EDARADD EFEMP2
ELN ERCC2 ERCC3 ERCC4 ERCC5 EXPH5 FANCA FANCC FANCG
FECH FERMT1 FLCN FLG GJB2 GJB3 GJB4 GJB6 GNAS
GORAB GPR143 GSN GTF2H5 HFE HMBS HR IL36RN ITGA3
ITGA6 ITGB4 JUP KIT KRT1 KRT10 KRT14 KRT16 KRT17
KRT2 KRT5 KRT6A KRT6B KRT6C KRT81 KRT83 KRT86 KRT9
LAMA3 LAMB3 LAMC2 LIPH LIPN LOR LPAR6 LYST MBTPS2
NF1 NF2 NHP2 NIPAL4 NOP10 NSDHL OCA2 PKP1 PLEC
PLOD1 PNPLA1 POFUT1 POGLUT1 POLH POMP PPOX PRKAR1A PTCH1
PTCH2 PYCR1 RECQL4 RTEL1 SLC27A4 SLC39A4 SLC45A2 SLURP1 SNAP29
SPINK5 SPRED1 ST14 STAT3 STS SUFU TERC TERT TGM1
TGM5 TINF2 TNXB TRPV3 TSC1 TSC2 TTR TYK2 TYR
TYRP1 UROD UROS WAS WRAP53 XPA XPC ZMPSTE24  
Panel Name Related Diseases Gene List
Solid Tumor Panel
(60 genes, 109.4 Kb)		 Somatic cancer
ABL1 AKT1 ALK APC ATM BRAF BRCA1 BRCA2 CDH1
CDKN2A CSF1R CTNNB1 DLC1 EGFR ERBB2 ERBB4 ESR1 FBXW7
FGFR1 FGFR2 FGFR3 FTSJ3 GNA11 GNAQ GNAS HNF1A HRAS
IDH1 IDH2 ITPRID2 JAK2 JAK3 KCNB2 KDR KIT KRAS
MET MLH1 MYC MYCN NOTCH1 NRAS NRXN1 PDGFRA PIK3CA
PTEN PTPN11 RB1 RBAK RET ROS1 SMAD4 SMARCB1 SMO
SMURF1 SRC STK11 TP53 VHL ZNF594      

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[Product Overview] G-Mendeliome Disease-specific Panels

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최신 MSDS 파일이 필요하시면 ‘Contact Us‘를 통해 문의 주시기 바랍니다.

MSDS_G-Mendeliome Disease-Specific Panels_Illumina

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References

PKD1 gene mutation and ultrasonographic characterization in cats with renal cysts

F1000Research

PKD1 gene mutation and ultrasonographic characterization in cats with renal cysts

Jaturanratsamee, K., Jiwaganont, P., Sukumolanan, P., & Petchdee, S. (2024). PKD1 gene mutation and ultrasonographic characterization in cats with renal cysts. F1000Research, 12, 760.

 

10.12688/f1000research.134906.2


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The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

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The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

Han, J. Y., Kim, T. Y., Gwack, J., & Park, J. (2024). The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p. Lys385Ter Variant. International Journal of Molecular Sciences, 25(19), 10327.

 

10.3390/ijms251910327


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Pediatric Academic Case Reports

MODY 10 Diagnosis in a Case Presenting with Diabetic Ketoacidosis: Novel Insulin Gene Variant

Onguner, S., Filibeli, B. E., Er, E., Özdemir, T. R., & Dündar, B. N. (2024). MODY 10 Diagnosis in a Case Presenting with Diabetic Ketoacidosis: Novel Insulin Gene Variant. Pediatric Academic Case Reports, 3(2), 028-031.

 

10.61107/pacr.2024.109


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Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea

biomedicines

Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea

Han, J. Y., Kim, T. Y., & Park, J. (2024). Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea. Biomedicines, 12(12), 2663.

 

10.3390/biomedicines12122663


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