G-Mendeliome Disease-Specific Panel
Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage
Overview
17 Diseases in a Single NGS Reaction; G-Mendeliome Disease-specific Panel
Celemics’ G-Mendeliome disease-specific panels are designed to analyze genes in various inherited diseases including cardiology, neurology, and various cancers.
The panels were developed in collaboration with leading clinical laboratories with proven clinical usage. The panels support gene add-on services, allowing customers to expand the hybridization probes with genes of interest to fit their research needs. Additionally, we provide customized bioinformatics analysis services to customers through Celemics’ proprietary bioinformatics SW.
The panels were developed in collaboration with leading clinical laboratories with proven clinical usage. The panels support gene add-on services, allowing customers to expand the hybridization probes with genes of interest to fit their research needs. Additionally, we provide customized bioinformatics analysis services to customers through Celemics’ proprietary bioinformatics SW.
Features & Benefits
Comprehensive Analysis of a Broad Range of diseases
The panel is capable of identifying diseases associated with: 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, and Dystonia.
Designed & Developed in Collaboration with the Leading CRO in the Country
Celemics has collaborated with the leading CRO laboratory in country under the purpose of practical uses in diagnostic field. As a result, we were able to design and develop 17 different ‘disease-specific’ panels for assessing particular genes of the related diseases.
During the process of development and commercialization, extensive in-house validation runs have proven high sensitivity (>95%) and specificity (>99.5%) for all selected genes pertaining to each panel.
Specification
| Gene count* | 14 - 320 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- (101 genes, 244.8 kb) |
Alzheimer’s disease, Parkinson’s disease, Dementia, Dystonia |
AARS | ABCA13 | ABCA7 | ABCB11 | ADCY5 | ALS2 | ANG | ANO3 | APP |
| ATP13A2 | ATP1A3 | ATP7B | C19orf12 | CACNA1B | CHCHD10 | CHMP2B | CHRNA4 | CIZ1 | ||
| COG1 | COL4A4 | COL6A3 | DAO | DCTN1 | DNMT1 | EVC | FERMT1 | FIG4 | ||
| FREM2 | FUS | GBA | GCH1 | GNAL | GNAO1 | GRM1 | GRN | HNRNPA1 | ||
| HNRNPA2B1 | HPCA | HPSE2 | IL12RB2 | KCTD17 | KMT2B | L2HGDH | LAMA3 | LRRK2 | ||
| MAPT | MATR3 | MECR | NDUFV3 | NEK1 | NPHS2 | OPTN | PANK2 | PARK7 | ||
| PDP1 | PINK1 | PLA2G6 | PNKD | PRKN | PRKRA | PRNP | PRRT2 | PSEN1 | ||
| PSEN2 | RELN | SERPIND1 | SETX | SGCE | SIGMAR1 | SLC12A6 | SLC19A3 | SLC2A1 | ||
| SLC30A10 | SLC6A3 | SNCA | SOD1 | SORL1 | SOX6 | SPG11 | SQSTM1 | SRY | ||
| SUMF1 | TAF1 | TAF15 | TARDBP | TBK1 | TDRD7 | TH | THAP1 | TIMM8A | ||
| TOR1A | TREM2 | TUBA4A | TUBB4A | UBQLN2 | VAC14 | VAPB | VCAN | VCP | ||
| VPS13A | WNK1 | |||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Bleeding Disorder- Coagulopathy Panel (147 genes, 326.3 Kb) |
Bleeding Disorder, Coagulation |
AARS | ABCA1 | ABCA13 | ABCB11 | ACTN1 | ANKRD26 | ANO6 | AP3B1 | ARHGAP35 |
| BLOC1S3 | BLOC1S6 | BRCA1 | BRCA2 | BRIP1 | CD36 | CDAN1 | COG1 | COL4A4 | ||
| CPNE1 | CYCS | DDX41 | DKC1 | DNMT1 | DTNBP1 | ELANE | ERCC4 | ETV6 | ||
| EVC | F10 | F11 | F13A1 | F13B | F2 | F5 | F7 | F8 | ||
| F9 | FANCA | FANCB | FANCC | FANCD2 | FANCE | FANCF | FANCG | FANCI | ||
| FANCL | FANCM | FERMT1 | FERMT2 | FGA | FGB | FGG | FLI1 | FREM2 | ||
| FYB1 | GATA1 | GATA2 | GFI1 | GFI1B | GP1BA | GP1BB | GP6 | GP9 | ||
| GRM1 | HAX1 | HOXA11 | HPS1 | HPS3 | HPS4 | HPS5 | HPS6 | HPSE2 | ||
| IFNG | IL12RB2 | ITGA2B | ITGB3 | KIAA1244 | L2HGDH | LAMA3 | LMAN1 | LYST | ||
| MASTL | MCFD2 | MLPH | MPL | MYH9 | MYO5A | NBEAL2 | NBN | NDUFV3 | ||
| NHP2 | NOP10 | NPHS2 | P2RY12 | PALB2 | PCNXL2 | PDP1 | PLA2G4A | PLAU | ||
| PRF1 | PRKACG | PRUNE2 | RAB27A | RAD51C | RASGRP2 | RBM8A | RIPK3 | RPL11 | ||
| RPL35A | RPL5 | RPS10 | RPS19 | RPS24 | RPS26 | RPS7 | RUNX1 | SBDS | ||
| SEC23B | SERPIND1 | SERPINE1 | SERPINF2 | SLC12A6 | SLFN14 | SLX4 | SOX6 | SP4 | ||
| SRC | SRP72 | SRY | STIM1 | SUMF1 | TBXA2R | TBXAS1 | TDRD7 | TERC | ||
| TERT | TINF2 | UBE2T | USP6NL | VCAN | VIPAS39 | VPS33B | VWF | WAS | ||
| WIPF1 | WNK1 | XRCC2 | ||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Cardiovascular Panel (206 genes, 681.3 Kb) |
Cardiac diseases | AARS | ABCA13 | ABCB11 | ABCC9 | ABCG5 | ABCG8 | ACTA1 | ACTA2 | ACTC1 |
| ACTN2 | AKAP9 | ALMS1 | ANK2 | ANKRD1 | APOA4 | APOA5 | APOB | APOC2 | ||
| APOE | ARHGAP35 | BAG3 | BRAF | CACNA1C | CACNA2D1 | CACNB2 | CALM1 | CALR3 | ||
| CASQ2 | CAV3 | CBL | CBS | CETP | COG1 | COL3A1 | COL4A4 | COL5A1 | ||
| COL5A2 | COX15 | CPNE1 | CREB3L3 | CRELD1 | CRYAB | CSRP3 | CTF1 | DES | ||
| DMD | DNAJC19 | DNMT1 | DOLK | DPP6 | DSC2 | DSG2 | DSP | DTNA | ||
| EFEMP2 | ELN | EMD | EVC | EYA4 | FBN1 | FBN2 | FERMT1 | FHL1 | ||
| FHL2 | FKRP | FKTN | FREM2 | FXN | GAA | GATAD1 | GCKR | GJA5 | ||
| GLA | GPD1L | GPIHBP1 | GRM1 | HADHA | HCN4 | HFE | HPSE2 | HRAS | ||
| HSPB8 | IL12RB2 | ILK | JAG1 | JPH2 | JUP | KCNA5 | KCND3 | KCNE1 | ||
| KCNE2 | KCNE3 | KCNH2 | KCNJ2 | KCNJ5 | KCNJ8 | KCNQ1 | KIAA1244 | KLF10 | ||
| KRAS | L2HGDH | LAMA2 | LAMA3 | LAMA4 | LAMP2 | LDB3 | LDLR | LDLRAP1 | ||
| LMF1 | LMNA | LPL | LTBP2 | MAP2K1 | MAP2K2 | MIB1 | MURC | MYBPC3 | ||
| MYH11 | MYH6 | MYH7 | MYL2 | MYL3 | MYLK | MYLK2 | MYO6 | MYOZ2 | ||
| MYPN | NDUFV3 | NEXN | NKX2-5 | NODAL | NOTCH1 | NPHS2 | NPPA | NRAS | ||
| PCNXL2 | PCSK9 | PDLIM3 | PDP1 | PKP2 | PLN | PRDM16 | PRKAG2 | PRKAR1A | ||
| PRUNE2 | PTPN11 | RAF1 | RANGRF | RBM20 | RIPK3 | RYR1 | RYR2 | SALL4 | ||
| SCN1B | SCN2B | SCN3B | SCN4B | SCN5A | SCO2 | SDHA | SEPN1 | SERPIND1 | ||
| SGCB | SGCD | SGCG | SHOC2 | SLC12A6 | SLC25A4 | SLC2A10 | SMAD3 | SMAD4 | ||
| SNTA1 | SOS1 | SOX6 | SP4 | SREBF2 | SUMF1 | TAZ | TBX20 | TBX3 | ||
| TBX5 | TCAP | TDRD7 | TGFB2 | TGFB3 | TGFBR1 | TGFBR2 | TMEM43 | TMPO | ||
| TNNC1 | TNNI3 | TNNT2 | TPM1 | TRDN | TRIM63 | TRPM4 | TTN | TTR | ||
| TXNRD2 | USP6NL | VCAN | VCL | WNK1 | ZBTB17 | ZHX3 | ZIC3 | |||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Common Hereditary Cancer Panel (93 genes, 218 Kb) |
Medical checkup | AARS | ABCA13 | ABCB11 | APC | ARHGAP35 | ATM | ATRX | BARD1 | BMPR1A |
| BRAF | BRCA1 | BRCA2 | BRIP1 | CDH1 | CDKN2A | CHEK2 | COG1 | COL4A4 | ||
| CPNE1 | DNMT1 | EGLN1 | EGLN2 | EPAS1 | EPCAM | EVC | FERMT1 | FGFR1 | ||
| FH | FREM2 | GRM1 | H3F3A | HPSE2 | HRAS | IDH2 | IL12RB2 | KIAA1244 | ||
| KIF1B | KMT2D | L2HGDH | LAMA3 | MAX | MDH2 | MEN1 | MERTK | MET | ||
| MLH1 | MRE11 | MSH2 | MSH6 | MUTYH | NBN | NDUFV3 | NF1 | NF2 | ||
| NPHS2 | PALB2 | PCNXL2 | PDP1 | PMS2 | POLD1 | POLE | PRSS1 | PRUNE2 | ||
| PTEN | RAD50 | RAD51C | RAD51D | RB1 | RET | RIPK3 | SDHA | SDHAF2 | ||
| SDHB | SDHC | SDHD | SERPIND1 | SLC12A6 | SMAD4 | SOX6 | SP4 | SPINK1 | ||
| STK11 | SUMF1 | TDRD7 | TMEM127 | TP53 | TSC1 | TSC2 | USP6NL | VCAN | ||
| VHL | WNK1 | WT1 | ||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Epilepsy Panel (150 genes, 401.6 Kb) |
Epilepsy | AARS | ABCA13 | ABCB11 | ADGRV1 | ADSL | ALDH7A1 | ALG13 | ARHGAP35 | ARHGEF15 |
| ARHGEF9 | ARX | ASAH1 | ATP1A2 | ATP6AP2 | CACNA1A | CASK | CDKL5 | CHD2 | ||
| CHRNA2 | CHRNA4 | CHRNA7 | CHRNB2 | CLCN4 | CLN3 | CLN5 | CLN6 | CLN8 | ||
| CNTNAP2 | COG1 | COL4A4 | CPNE1 | CSTB | CTSD | DCX | DEPDC5 | DLG3 | ||
| DNAJC5 | DNM1 | DNMT1 | DOCK7 | DYRK1A | EEF1A2 | EPM2A | EVC | FERMT1 | ||
| FOLR1 | FOXG1 | FREM2 | GABRA1 | GABRA2 | GABRB3 | GABRG2 | GAMT | GATM | ||
| GNAO1 | GOSR2 | GRIN1 | GRIN2A | GRIN2B | GRM1 | HCN1 | HDAC4 | HNRNPU | ||
| HPSE2 | IL12RB2 | IQSEC2 | KANSL1 | KCNA2 | KCNB1 | KCNH5 | KCNJ10 | KCNMA1 | ||
| KCNQ2 | KCNQ3 | KCNT1 | KCTD7 | KIAA1244 | L2HGDH | LAMA3 | LGI1 | MAGI2 | ||
| MBD5 | MECP2 | MEF2C | MFSD8 | NDUFV3 | NECAP1 | NHLRC1 | NPHS2 | NR2F1 | ||
| NRXN1 | PCDH19 | PCNXL2 | PDP1 | PIGA | PIGO | PIGQ | PIGV | PLCB1 | ||
| PNKP | PNPO | POLG | PPT1 | PRICKLE1 | PRICKLE2 | PRRT2 | PRUNE2 | QARS | ||
| RELN | RIPK3 | SCARB2 | SCN1A | SCN1B | SCN2A | SCN8A | SCN9A | SERPIND1 | ||
| SLC12A6 | SLC13A5 | SLC25A22 | SLC2A1 | SLC35A2 | SLC6A8 | SLC9A6 | SMS | SOX6 | ||
| SP4 | SPTAN1 | SRPX2 | SRY | ST3GAL3 | STXBP1 | SUMF1 | SYN1 | SYNGAP1 | ||
| SYNJ1 | SZT2 | TBC1D24 | TCF4 | TDRD7 | TPP1 | TSC1 | TSC2 | UBE3A | ||
| USP6NL | VCAN | WDR45 | WNK1 | WWOX | ZEB2 | |||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Hearing Loss-Deafness Panel (62 genes, 130.3 Kb) |
Hearing loss, Deafness |
AARS | ABCA13 | ABCB11 | ARHGAP35 | CDH23 | CLRN1 | COCH | COG1 | COL11A1 |
| COL2A1 | COL4A4 | CPNE1 | DIAPH1 | DNMT1 | EDNRB | EVC | EYA1 | FERMT1 | ||
| FREM2 | GJB2 | GJB6 | GRM1 | HPSE2 | IL12RB2 | KCNE1 | KCNQ1 | KCNQ4 | ||
| KIAA1244 | L2HGDH | LAMA3 | MITF | MYO15A | MYO7A | NDUFV3 | NPHS2 | OTOF | ||
| PAX3 | PCNXL2 | PDP1 | POU3F4 | PRUNE2 | RIPK3 | SERPIND1 | SIX5 | SLC12A6 | ||
| SLC26A4 | SNAI2 | SOX10 | SOX6 | SP4 | SUMF1 | TDRD7 | TECTA | TMC1 | ||
| TMIE | TMPRSS3 | USH1C | USH2A | USP6NL | VCAN | WFS1 | WNK1 | |||
| 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 (83 genes, 118.3 Kb) |
Lymphoma | AARS | ABCA13 | ABCB11 | ALK | ARHGAP35 | ATM | B2M | BCL6 | BIRC3 |
| BRAF | BTK | CARD11 | CD79A | CD79B | COG1 | COL4A4 | CPNE1 | CREBBP | ||
| CXCR4 | DNMT1 | EGR2 | EP300 | EVC | EZH2 | FAS | FAT4 | FBXO11 | ||
| FERMT1 | FREM2 | GRM1 | HPSE2 | ID3 | IDH2 | IKBKB | IKZF1 | IL12RB2 | ||
| JAK3 | KIAA1244 | KLF2 | L2HGDH | LAMA3 | MYC | MYD88 | NDUFV3 | NFKBIE | ||
| NOTCH1 | NOTCH2 | NPHS2 | PCNXL2 | PDP1 | PLCG1 | PLCG2 | POT1 | PRDM1 | ||
| PRUNE2 | RHOA | RIPK3 | RPS15 | RRAGC | SERPIND1 | SF3B1 | SLC12A6 | SOCS1 | ||
| SOX6 | SP4 | SRY | STAT3 | STAT5B | SUMF1 | TBL1XR1 | TCF3 | TDRD7 | ||
| TET2 | TNFAIP3 | TNFRSF14 | TP53 | TP63 | TRAF3 | UBR5 | USP6NL | VCAN | ||
| WNK1 | XPO1 | |||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Lysosomal Storage Diseases Panel (117 genes, 195.9 Kb) |
Lysosomal storage disease |
AARS | ABCA13 | ABCB11 | ABCD1 | ACOX1 | AGA | AGL | ALDOA | ALDOB |
| ARHGAP35 | ARSA | ARSB | ATP13A2 | ATP7A | ATP7B | CLN3 | CLN5 | CLN6 | ||
| CLN8 | COG1 | COL4A4 | CPNE1 | CTNS | CTSA | CTSD | CTSF | DNAJC5 | ||
| DNMT1 | EVC | FERMT1 | FREM2 | FUCA1 | G6PC | GAA | GALC | GALE | ||
| GALK1 | GALK2 | GALNS | GALT | GBA | GBE1 | GJB2 | GLA | GLB1 | ||
| GNPTAB | GNPTG | GNS | GRM1 | GRN | GUSB | GYS1 | GYS2 | HEXA | ||
| HEXB | HGSNAT | HPRT1 | HPSE2 | HYAL1 | IDS | IDUA | IL12RB2 | KCTD7 | ||
| KIAA1244 | L2HGDH | LAMA3 | LDHA | LIPA | MAN2B1 | MANBA | MCOLN1 | MFSD8 | ||
| NAGA | NAGLU | NDUFV3 | NEU1 | NPC1 | NPC2 | NPHS2 | PCNXL2 | PDP1 | ||
| PEX1 | PEX10 | PEX12 | PEX13 | PEX14 | PEX16 | PEX19 | PEX2 | PEX26 | ||
| PEX3 | PEX5 | PEX6 | PFKM | PHKA2 | PHKB | PHKG2 | PPT1 | PRUNE2 | ||
| PYGL | PYGM | RIPK3 | SERPIND1 | SGSH | SLC12A6 | SLC17A5 | SLC2A2 | SLC37A4 | ||
| SMPD1 | SOX6 | SP4 | SUMF1 | TDRD7 | TPP1 | USP6NL | VCAN | WNK1 | ||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Metabolic Disorders Panel (103 genes, 138.3 Kb) |
Inborn errors of matabolism | AARS | ABCA13 | ABCB11 | ABCD1 | ACAD8 | ACADM | ACADS | ACADSB | ACADVL |
| ACAT1 | AHCY | ARG1 | ARHGAP35 | ASL | ASS1 | AUH | BCKDHA | BCKDHB | ||
| BTD | CBS | COG1 | COL4A4 | CPNE1 | CPS1 | CPT1A | CPT2 | DBT | ||
| DECR1 | DHCR7 | DLD | DNMT1 | ETFA | ETFB | ETFDH | EVC | FAH | ||
| FERMT1 | FREM2 | GALE | GALK1 | GALT | GAMT | GATM | GCDH | GCH1 | ||
| GNMT | GRM1 | HADH | HADHA | HADHB | HLCS | HMGCL | HPD | HPSE2 | ||
| HSD17B10 | IL12RB2 | IVD | KIAA1244 | L2HGDH | LAMA3 | LMBRD1 | MAT1A | MCCC1 | ||
| MCCC2 | MLYCD | MMAA | MMAB | MMACHC | MMADHC | MMUT | MTHFR | MTR | ||
| MTRR | NDUFV3 | NPHS2 | OPA3 | OTC | PAH | PCBD1 | PCCA | PCCB | ||
| PCNXL2 | PDP1 | PRUNE2 | PTS | QDPR | RIPK3 | SERPIND1 | SLC12A6 | SLC22A5 | ||
| SLC25A13 | SLC25A20 | SLC6A8 | SOX6 | SP4 | SUMF1 | TAT | TAZ | TCN2 | ||
| TDRD7 | USP6NL | VCAN | WNK1 | |||||||
| 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 (320 genes, 1,160 Kb) |
Neuromuscular disease |
AARS | ABCA13 | ABCB11 | ABCB7 | ABCD1 | ABHD12 | ACAD9 | ACADL | ACADM |
| ACO2 | ACTA1 | ADCK3 | AFG3L2 | AGL | AIFM1 | ALDH3A2 | AMPD1 | ANO10 | ||
| ANO5 | AP4B1 | AP4E1 | AP4M1 | AP4S1 | AP5Z1 | APTX | ARHGAP35 | 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 | COG1 | COL4A4 | COL6A1 | ||
| COL6A2 | COL6A3 | COLQ | CPNE1 | 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 | EVC | FA2H | FAM134B | ||
| FERMT1 | FGD4 | FGF14 | FHL1 | FIG4 | FKRP | FKTN | FLNC | FLVCR1 | ||
| FREM2 | 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 | HPSE2 | ||
| HSPB1 | HSPB8 | HSPD1 | HSPG2 | IGHMBP2 | IKBKAP | IL12RB2 | ISPD | ITGA7 | ||
| ITPR1 | JPH3 | KBTBD13 | KCNA1 | KCNC3 | KCND3 | KCNE3 | KCNJ10 | KCNJ18 | ||
| KIAA0196 | KIAA1244 | KIF1A | KIF1B | KIF1C | KIF5A | KLHL40 | KLHL41 | L1CAM | ||
| L2HGDH | LAMA1 | LAMA2 | LAMA3 | LARGE | LDB3 | LITAF | LMNA | LPIN1 | ||
| LRSAM1 | MARS | MARS2 | MATR3 | MED25 | MFN2 | MPZ | MRE11A | MTM1 | ||
| MTMR14 | MTMR2 | MTPAP | MTTP | MUSK | MYF6 | MYH2 | MYH7 | MYOT | ||
| NDRG1 | NDUFV3 | NEB | NEFL | NGF | NIPA1 | NOP56 | NPHS2 | NTRK1 | ||
| OPA1 | OPA3 | OPHN1 | PABPN1 | PANK2 | PCNXL2 | PDK3 | PDP1 | PDYN | ||
| PEX7 | PFKM | PGAM2 | PHKA1 | PHYH | PLEC | PLEKHG5 | PLP1 | PMM2 | ||
| PMP22 | PNKP | PNPLA6 | POLG | POLG2 | POMGNT1 | POMT1 | POMT2 | PRKCG | ||
| PRPS1 | PRUNE2 | PRX | PTF1A | PTRF | PYGM | RAB7A | RAPSN | REEP1 | ||
| RIPK3 | RNF216 | RRM2B | RTN2 | RUBCN | RYR1 | RYR2 | SACS | SBF2 | ||
| SCN4A | SCN9A | SEPN1 | SERPIND1 | SETX | SGCA | SGCB | SGCD | SGCE | ||
| SGCG | SH3TC2 | SIL1 | SLC12A6 | SLC16A2 | SLC1A3 | SLC33A1 | SLC39A4 | SLC52A2 | ||
| SLC9A1 | SLC9A6 | SMN1 | SNX14 | SOD1 | SOX6 | SP4 | SPAST | SPG11 | ||
| SPG20 | SPG21 | SPG7 | SPTBN2 | SPTLC1 | SPTLC2 | STAC3 | STUB1 | SUCLA2 | ||
| SUMF1 | SYNE1 | SYNE2 | SYT14 | TBP | TCAP | TDP1 | TDRD7 | TECPR2 | ||
| TGM6 | TK2 | TMEM240 | TNNI2 | TNNT1 | TPM2 | TPM3 | TPP1 | TRIM32 | ||
| TRPV4 | TTBK2 | TTN | TTPA | TTR | TUBB4A | TYMP | USP6NL | VAMP1 | ||
| VCAN | 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 (192 genes, 616.1 Kb) |
Short stature | AARS | ABCA13 | ABCB11 | ACTA2 | ADAMTS10 | ADAMTS2 | ADAMTSL4 | AGPS | ALPL |
| ARHGAP35 | ARSE | ATP6V0A2 | ATP7A | ATRX | B3GALT6 | B4GALT7 | BGN | BLM | ||
| BRAF | CBL | CBS | CDC6 | CDT1 | CHST14 | COG1 | COL10A1 | COL11A1 | ||
| COL1A1 | COL1A2 | COL2A1 | COL3A1 | COL4A4 | COL5A1 | COL5A2 | COL9A1 | COL9A2 | ||
| COL9A3 | COMP | CPNE1 | CREBBP | CRTAP | CTSK | CUL7 | DHCR7 | DLL3 | ||
| DNMT1 | DYNC2H1 | DYRK1A | EBP | EFEMP2 | ELN | EP300 | ERCC6 | ERCC8 | ||
| EVC | EVC2 | EXT1 | EXT2 | FBLN5 | FBN1 | FBN2 | FERMT1 | FGD1 | ||
| FGF23 | FGFR1 | FGFR2 | FGFR3 | FKBP10 | FLNA | FLNB | FOXE3 | FREM2 | ||
| GH1 | GHR | GHRHR | GLI2 | GLI3 | GNAS | GNPAT | GRM1 | HESX1 | ||
| HPSE2 | HRAS | HSPG2 | IFITM5 | IFT80 | IGF1 | IGF1R | IL12RB2 | INPPL1 | ||
| KCNJ2 | KCNJ8 | KDM6A | KIAA1244 | KMT2D | KRAS | L2HGDH | LAMA3 | LBR | ||
| LHX3 | LIFR | LOX | LTBP2 | LZTR1 | MAP2K1 | MAP2K2 | MAT2A | MATN3 | ||
| MED12 | MFAP5 | MYH11 | MYLK | NBAS | NBN | NDUFV3 | NEK1 | NF1 | ||
| NIPBL | NPHS2 | NRAS | NSDHL | OBSL1 | ORC1 | ORC4 | ORC6 | P3H1 | ||
| PCNT | PCNXL2 | PDP1 | PEX7 | PHEX | PLOD1 | POR | POU1F1 | PPIB | ||
| PPP1CB | PRKG1 | PROP1 | PRUNE2 | PTPN11 | PYCR1 | RAF1 | RIN2 | RIPK3 | ||
| RIT1 | RMRP | ROR2 | RPS6KA3 | RUNX2 | SBDS | SERPIND1 | SERPINH1 | SHOC2 | ||
| SKI | SLC12A6 | SLC26A2 | SLC2A10 | SLC34A3 | SLC35D1 | SLC39A13 | SMAD3 | SMARCAL1 | ||
| SMC1A | SMC3 | SMS | SOS1 | SOS2 | SOX3 | SOX6 | SOX9 | SP4 | ||
| SPRED1 | SRCAP | SUMF1 | TDRD7 | TGFB1 | TGFB2 | TGFB3 | TGFBR1 | TGFBR2 | ||
| THRB | TRIM37 | TRIP11 | TRPS1 | TRPV4 | TTC21B | USP6NL | VCAN | WDR19 | ||
| WDR35 | WNK1 | 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 (61 genes, 109.4 Kb) |
Somatic cancer | |||||||||
| ABL1 | AKT1 | ALK | APC | ATM | BRAF | BRCA1 | BRCA2 | CDH1 | ||
| CDKN2A | CSF1R | CTNNB1 | DLC1 | EGFR | ERBB | ERBB2 | ERBB4 | ESR1 | ||
| FBXW7 | FGFR1 | FGFR2 | FGFR3 | FTSJ3 | GNA11 | GNAQ | GNAS | HNF1A | ||
| HRAS | IDH1 | IDH2 | 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 | SSFA2 | STK11 | TP53 | VHL | ZNF594 | ||||
Related Products
Clinical Exome Sequencing
Comprehensive detection of clinically significant variants for diverse genetic diseases
Library Preparation Kit
Highly optimized, user- convenient NGS library preparation kit for all Celemics panels
CAS
End-to-end complete Bioinformatics solution; Trust CAS with your BI analysis
CeleMag Clean-up Bead
Incomparable quality magnetic bead for simple, flexible, and reproducible purification
Comprehensive detection of clinically significant variants for diverse genetic diseases
Highly optimized, user- convenient NGS library preparation kit for all Celemics panels
End-to-end complete Bioinformatics solution; Trust CAS with your BI analysis
Incomparable quality magnetic bead for simple, flexible, and reproducible purification
Resources
Technical Resources
Safety Data Sheets
References
BMC Medical Genomics
Clinical and Genetic Analyses and Treatment Experiences of Patients with Lateralized Overgrowth
Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, et al. Clinical and genetic analyses of patients with lateralized overgrowth. BMC Med Genomics. 2022 Sep 30;15(1):206.
DOI 10.1186/s12920-022-01362-1
J Atheroscler Thromb
Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020
Kim H, Lee CJ, Kim SH, Kim JY, Choi SH, Kang HJ, et al. Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020. J Atheroscler Thromb. 2022 Aug 1;29(8):1176–87.
DOI 10.5551/jat.63062
Yonsei Med J
Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery
Lee CJ, Choi B, Pak H, Park JM, Lee JH, Lee SH. Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery. Yonsei Med J. 2022 Apr;63(4):342–8.
DOI 10.3349/ymj.2022.63.4.342
Mol Syndromol
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Cinleti T, Yılmaz Uzman C, Akyol Ş, Tüfekçi Ö, Erçal MD, Giray Bozkaya Ö. Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct. Mol Syndromol. 2022 May;13(3):200–5.
DOI 10.1159/000519364