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
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 - 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- (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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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
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References
International journal of Molecular Sciences
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
Han JY, Gwack J, Kim TY, Park J. A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B. International Journal of Molecular Sciences. 2024 Sep 11;25(18):9823.
10.3390/ijms25189823
Heliyon
A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A case report
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
Scientific Reports
Identification and analyses of exonic and copy number variants in spastic paraplegia
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
Current Issues in Molecular Biology
Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases
Gwack J, Kim N, Park J. Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases. Current Issues in Molecular Biology. 2024 May 20;46(5):5010-22.
10.3390/cimb46050300