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G-Mendeliome Disease-Specific Panel
Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage
The most comprehensive whole exome panel that covers the target regions of all major WES panels in the market. With our proprietary technologies, we provide industry-leading performance and efficiency with complete BI solution.
View Detail >Hybridization-based target enrichment panel with our intrinsic probe design, rebalancing, and molecular barcode technologies to efficiently analyze not only hard-to-capture areas but also challenging samples, such as damaged DNA or RNA.
View Detail >End-to-end customized target enrichment panel with assay optimization, validation and even complete BI support. Over 1,000 custom panels developed world-wide. White-labeled customized product for business expansion also available.
View Detail >Revolutionary Bioinformatics solution providing fast and
accurate, client-specific analysis services.
Trust CAS with your BI analysis !
Celemics offers easy-to-use kit with all components needed from RNA fragmentation to double-stranded cDNA synthesis suitable for NGS.
View Detail >Celemics exclusive enzymes and buffers for enhanced hybridization to ensure improved coverage and uniformity.
View Detail >Proven market-leading purification and size selection efficiency supported by Celemics’ unique magnetic bead-based chemistry. Compatible with all Celemics’ panels as well as other NGS providers
View Detail >High-quality streptavidin bead that selectively isolates biotinylated ligands bound to hybridization probes; minimizing DNA loss during the target enrichment process.
View Detail >CeleNM™ Bead streamlines library quantification and normalization in Next-Generation Sequencing (NGS). Say goodbye to traditional QC processes, saving time and costs while ensuring robust results. Experience uniform sequencing data distribution and comparable on-target ratios with CeleNM™ Bead.
View Detail >Celemics’ highly optimized polymerase ensures market-leading amplification efficiency and accuracy with minimized PCR bias and error rate.
View Detail >Highly optimized library preparation kit to be used with all Celemics ready-to-use or customized panels. Experience the incomparable efficiency and performance for NGS library preparation
View Detail >The most comprehensive whole exome panel that covers the target regions of all major WES panels in the market. With our proprietary technologies, we provide industry-leading performance and efficiency with complete BI solution.
View Detail >Celemics’ comprehensive NGS panel for somatic cancer allows highly accurate and comprehensive analysis for identifying significant mutations and variants for solid tumors.
Celemics’ comprehensive NGS panel for somatic cancer allows highly accurate and comprehensive analysis for identifying significant mutations and variants for solid tumors.
Celemics has developed NGS ctDNA-based kits for colon, breast, and lung cancer assays. We have integrated our market-leading proprietary technologies and thoroughly validated and optimized as ready-to-use panels for clinical diagnostics.
Celemics offers end-to-end NGS-based detection and discovery solutions for Biopharma, CRO, and Drug discovery research fields.
In order to overcome the limitations of analyzing clinical diseases with conventional whole exome sequencing, Celemics introduces NGS-based clinical diagnostic solution for efficient detection of disease-causing variants for inherited diseases.
Celemics offers flexible choice of assessing extensive target regions associated with Pharmacogenomics for client-specific drug prescription and drug metabolism.
Celemics’ virus panels are designed to detect and identify disease-causing viruses. With our exclusive technologies, we provide efficient and accurate detection of targeted virus trains as well as procurement of credible data for whole viral genome sequencing.
To fulfill the expectations and growing needs for sequencing animals and plants, Celemics offers range of ready-to-use applicable to agrigenomics field as well as an option for developing customized NGS panel to specifically fit individual research purposes.
With Celemics’ proprietary technologies for assay development and optimization, we offer complete and robust NGS solutions for transcriptome, fusion, and isoform analyses for various sample types and conditions.
Celemics provides comprehensive solution for DNA methylation sequencing with proprietary probes specifically designed for methyl-seq, enabling accurate detection of methylation sites.
Complete solution with flexible panel design for characterization and differentiation of a myriad of microbial species.
Accurate and efficient analysis of IGH population that can detect MRD as low as 10-6 with optimized primers that can minimize sequencing loss and PCR duplications.
Celemics introduces revolutionary BI solution aiming to provide client-specific service. We provide fast, accurate, and sophisticated analyses of your NGS data accompanied by our proprietary bioinformatics pipeline.
The most comprehensive whole exome panel that covers the target regions of all major WES panels in the market. With our proprietary technologies, we provide industry-leading performance and efficiency with complete BI solution.
View Detail >End-to-end customized target enrichment panel with assay optimization, validation and even complete BI support. Over 1,000 custom panels developed world-wide. White-labeled customized product for business expansion also available.
View Detail >Utilizing NGS-based target enrichment methods for higher genotyping efficiency and accuracy. Providing cost-effective and optimized experiment compared to conventional methods, such as GBS, PCR and microarray in plant and animal research
View Detail >
Revolutionary Bioinformatics solution providing fast and
accurate, client-specific analysis services.
Trust CAS with your BI analysis
Providing NGS-based diagnostics solutions for biopharma companies. Celemics can develop and deliver a flexible customization and commercialization services while maintaining the market-leading performance for our clients interested in clinical and companion diagnostics.
View Detail >Tailored-fit customized assay development from designing to validation run; including not only the custom panel design but also species-specific or sequencer-specific blockers, followed by reagent conditioning to optimize the individual experiment and sequencer.
View Detail >The most comprehensive whole exome panel that covers the target regions of all major WES panels in the market. With our proprietary technologies, we provide industry-leading performance and efficiency with complete BI solution.
View Detail >Find useful information, insights and tools for your Celemics’ products and services
View Detail >Explore the most up-to-date publications featuring Celemics’ products and services
View Detail >Sharing interesting stories about the world of NGS and how Celemics delivers the innovative NGS solutions to the world of science.
View Detail >Explore a diverse range of engaging video content, from fascinating experiments showcasing cutting-edge research to heartfelt customer testimonials.
View Detail >Find useful information, insights and tools for your Celemics’ products and services
View Detail >In-silico designed and wet-lab validated exclusive probes to ensure state-of-the-art capture performance
View Detail >Stay up-to-date with the latest updates on our activities, events and achievements
View Detail >Let’s change the NGS market together – our global presence and partners world-wide
View Detail >Waiting for your experience with Celemics, an innovative leader in NGS industry
View Detail >Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage
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.
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.
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.
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 |
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- (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 (85 genes, 109.2 Kb) |
Acute lymphatic leukemia |
AARS | ABCA13 | ABCB11 | ABL1 | AMELX | AMELY | ARHGAP35 | BRAF | BTG1 |
CDKN2A | COG1 | COL4A4 | CPNE1 | CREBBP | CRLF2 | DNM2 | DNMT1 | DNMT3A | ||
EP300 | ETV6 | EVC | EZH2 | FBXW7 | FERMT1 | FLT3 | FREM2 | GATA3 | ||
GRM1 | HPSE2 | IDH1 | IDH2 | IKZF1 | IL12RB2 | IL7R | JAK1 | JAK2 | ||
JAK3 | KDM6A | KIAA1244 | KMT2A | KMT2D | KRAS | L2HGDH | LAMA3 | LEF1 | ||
LMO1 | MAPK1 | NDUFV3 | NF1 | NOTCH1 | NPHS2 | NRAS | NSD2 | NT5C2 | ||
NUDT15 | PAX5 | PCNXL2 | PDP1 | PHF6 | PRUNE2 | PTEN | PTPN11 | RB1 | ||
RIPK3 | RUNX1 | SERPIND1 | SETD2 | SH2B3 | SLC12A6 | SOX6 | SP4 | SRY | ||
STAG2 | STAT3 | STAT5B | SUMF1 | TBL1XR1 | TCF3 | TDRD7 | TP53 | TPMT | ||
USP6NL | VCAN | WNK1 | 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 (83 genes, 94.8 Kb) |
Acute myeloid leukemia |
AARS | ABCA13 | ABCB11 | AMELX | AMELY | ANKRD26 | ARHGAP35 | ASXL1 | ATRX |
BCOR | BCORL1 | BRAF | CALR | CBL | CBLB | CEBPA | COG1 | COL4A4 | ||
CPNE1 | CSF3R | DDX41 | DNMT1 | DNMT3A | ETV6 | EVC | EZH2 | FERMT1 | ||
FLT3 | FREM2 | GATA1 | GATA2 | GRM1 | HPSE2 | HRAS | IDH1 | IDH2 | ||
IL12RB2 | JAK2 | JAK3 | KDM6A | KIAA1244 | KIT | KRAS | L2HGDH | LAMA3 | ||
MPL | NDUFV3 | NOTCH1 | NPHS2 | NPM1 | NRAS | PCNXL2 | PDGFRA | PDP1 | ||
PHF6 | PPM1D | PRUNE2 | PTPN11 | RAD21 | RIPK3 | RUNX1 | SERPIND1 | SETBP1 | ||
SF3B1 | SLC12A6 | SMC1A | SMC3 | SOX6 | SP4 | SRSF2 | STAG1 | STAG2 | ||
STAT3 | SUMF1 | TDRD7 | TET2 | TP53 | U2AF1 | USP6NL | VCAN | WNK1 | ||
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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MSDS_G-Mendeliome Disease-Specific Panels_Illumina
MSDS_G-Mendeliome Disease-Specific Panels_Thermo Fisher
MSDS_G-Mendeliome Disease-Specific Panels_MGI
Rhim JW, Kim DK, Han JY, Park J. A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A Case report. Heliyon. 2024 Sep 4.
10.1016/j.heliyon.2024.e36717
Shafique A, Nadeem A, Aslam F, Manzoor H, Noman M, Wohler E, Witmer PD, Sobreira N, Naz S. Identification and analyses of exonic and copy number variants in spastic paraplegia. Scientific reports. 2024 Jun 21;14(1):14331.
10.1038/s41598-024-64922-8
Kim SJ, Joo E, Park J, Seol CA, Lee J-E. Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience. Ann Pediatr Endocrinol Metab. 2024;29(1):38–45
10.6065/apem.2346036.018