Panel Name, Specifity and genes Tested/covered |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
100 %
|
D-2- and L-2-Hydroxyglutaric Aciduria Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
D2HGDH, L2HGDH, SLC25A1
Specificity
34 %
Genes
50 %
|
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)
View the complete list with 153 more genes
FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SYNGAP1, SMC1A, L1CAM, KIF1A, DYNC1H1, SCN2A, GRIN2B, GRIN2A, MBD5, DEAF1, DCX, PQBP1, FLNA, SRPX2, PURA, NEXMIF, ST3GAL3, NRXN1, GRIN1, DYRK1A, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PRPS1, PTCHD1, ADNP, MID1, MED12, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MAGT1, ZNF711, ZNF41, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, ZDHHC9, BRWD3, CLIC2, SLC16A2, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, FRMPD4, CCDC22, NSUN2, PCNT, DNMT3A, SOX11, SMARCA4, SMARCB1, ARID1A, PGAP1, DDHD2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, NRXN2, VLDLR, PACS1, KPTN, SLC25A1, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, WASHC4, FMN2, FBXO31, EZR, CRADD, CLIP1, ADAT3, ZNF407, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF674, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8
Specificity
2 %
Genes
100 %
|
Autosomal Recessive Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
IDH2, STXBP1, TUSC3, ALG6, D2HGDH, L2HGDH, ARFGEF2, ST3GAL3, NRXN1, KCNJ10, CNTNAP2, VPS13B, NSUN2, PCNT, DDHD2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1 , (...)
View the complete list with 16 more genes
IDH2, STXBP1, TUSC3, ALG6, D2HGDH, L2HGDH, ARFGEF2, ST3GAL3, NRXN1, KCNJ10, CNTNAP2, VPS13B, NSUN2, PCNT, DDHD2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, VLDLR, SLC25A1, TECR, MED23, LRP2, LINS1, C12orf57, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8
Specificity
6 %
Genes
100 %
|
D-2-hydroxyglutaric Aciduria Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
IDH2, D2HGDH
Specificity
100 %
Genes
100 %
|
D-2-Hydroxyglutaric Aciduria Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
IDH2, D2HGDH
Specificity
100 %
Genes
100 %
|
D-2 and L-2 Hydroxyglutaric Aciduria Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
IDH2, D2HGDH, L2HGDH, SLC25A1
Specificity
50 %
Genes
100 %
|
D2HGDH. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
D2HGDH
Specificity
100 %
Genes
50 %
|
D-2-hydroxyglutaric aciduria (deletion/duplication analysis of D2HGDH gene).
By CGC Genetics in Portugal.
D2HGDH
Specificity
100 %
Genes
50 %
|
D-2-hydroxyglutaric aciduria (sequence analysis of D2HGDH gene).
By CGC Genetics in Portugal.
D2HGDH
Specificity
100 %
Genes
50 %
|
Organic Aciduria Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT , (...)
View the complete list with 9 more genes
MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, IVD, L2HGDH, ETFB, ETFA, ETFDH, GCDH, CD320, SLC25A1
Specificity
7 %
Genes
100 %
|
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)
View the complete list with 134 more genes
PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK, BOLA3, NFU1, HMGCL, NUBPL, SCP2, IDH2, SLC25A12, SDHB, SUCLA2, MRPS22, DARS2, TUFM, GFM1, COQ2, SPG7, TYMP, D2HGDH, OTC, ABCD1, HEXA, ALDH5A1, ALDH3A2, ACOX1, PAH, TCIRG1, COX15, SURF1, NDUFS8, MOCS1, SDHAF1, NDUFS1, NDUFV1, NDUFS2, GALC, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, CYP27A1, FARS2, MTFMT, AGA, ARSA, ASPA, EIF2B1, GJC2, GLA, IDS, IKBKG, NPC1, NPC2, PLP1, PEX2, PPT1, MLC1, MCOLN1, PEX1, SLC17A5, SUMF1, EIF2B5, GJB1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, NOTCH3, CYP7B1, FA2H, SPART, DAG1, SLC19A3, FOLR1, COL4A1, ADGRG1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, HTRA1, CLPP, POLR1C, SOX10, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, SLC16A2, CLCN2, GAN, ERCC6, TUBB4A, CYP2U1, ADAR, RNASET2, CTC1, GJA1, DCAF17, MARS2, COX10, CSF1R, TREM2, EARS2, ERCC8, OCLN, HEPACAM, IBA57, SLC25A1, BCAP31, RARS, LMNB1, POLR3A, POLR3B, APOPT1, FAM126A, COL4A2, PEX11B, AIMP1, DARS, LYRM7, JAM3, ISCA2
Specificity
2 %
Genes
100 %
|
D-2-Hydroxyglutaric Aciduria Type I via D2HGDH Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
D2HGDH
Specificity
100 %
Genes
50 %
|
Hydroxyglutaric Aciduria Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
IDH2, D2HGDH, L2HGDH, SLC25A1
Specificity
50 %
Genes
100 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
50 %
|
D-2-hydroxyglutaric dehydrogenase (D2HGDH) deficiency.
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
D2HGDH
Specificity
100 %
Genes
50 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
50 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
50 %
|
D-2-hydroxyglutaric aciduria.
By Centogene AG - the Rare Disease Company in Germany.
D2HGDH
Specificity
100 %
Genes
50 %
|
Nuclear encoded Mitochondriopathies Panel.
By CeGaT GmbH in Germany.
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)
View the complete list with 263 more genes
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, STAR, ELAC2, SDHAF2, AMACR, CPS1, CPT2, OPA1, TRMU, WFS1, HSD17B10, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, COX14, AGK, DNM1L, DGUOK, BOLA3, DIABLO, PDHB, ALDH6A1, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, TTC19, MTPAP, XPNPEP3, NDUFA10, NUBPL, IDH2, KARS, GFER, TMEM126A, SLC25A12, GAMT, GATM, COX4I2, SDHB, SUCLA2, COQ8A, CYCS, MRPS22, RARS2, ACAD8, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, HTRA2, REEP1, DNAJC19, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, CISD2, SCO2, TYMP, ETHE1, D2HGDH, PUS1, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, MMADHC, AK2, OAT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, HIBCH, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, OGDH, PPOX, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, MGME1, RMRP, SDHD, SACS, GDAP1, ATL1, MT-TL1, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, SPAST, KIF5A, SLC33A1, SPART, SLC19A3, SAMHD1, CLPP, PNPT1, SLC19A2, MT-TS1, MT-TS2, LARS2, MT-RNR1, PDK3, DNA2, ERCC6, DDHD1, FDX2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, COASY, MARS2, COX10, SCO1, MT-TL2, TPK1, EARS2, HADH, IDH1, COQ8B, HOGA1, IBA57, SLC25A1, COX20, SERAC1, COA5, PET100, CHCHD10, DECR1, UQCRC2, YWHAE, ATP5F1A, MPC1, NDUFB9, CYC1, COX7B, MRPL44, LYRM4, RMND1, SFXN4, BCAT2, CRAT, CEP89
Specificity
1 %
Genes
100 %
|
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.
By CeGaT GmbH in Germany.
AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)
View the complete list with 155 more genes
AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9, TMEM70, NDUFAF1, HMGCL, TTC19, NUBPL, SCP2, SLC25A12, SUCLA2, DARS2, TUFM, GFM1, SCO2, TYMP, D2HGDH, ABCD1, HEXA, ALDH3A2, PHYH, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFA1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, GALC, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, LRPPRC, COX6B1, CYP27A1, TACO1, FARS2, MTFMT, SDHA, AGA, ARSA, ASPA, EIF2B1, GJC2, GLA, IDS, NPC1, NPC2, PLP1, PRF1, FKTN, PEX2, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, EIF2B5, PHGDH, PLA2G6, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, NOTCH3, FKRP, CYP7B1, FA2H, SPART, SPG21, POMT2, POMT1, LAMA2, LARGE1, FOLR1, KCNT1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, HTRA1, ERCC2, ERCC3, POLR1C, SOX10, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, SLC16A2, CLCN2, AARS, GAN, GMPPB, ERCC6, IFIH1, TUBB4A, DDHD2, ADAR, AP4E1, RNASET2, CTC1, COX10, CSF1R, TREM2, EARS2, ERCC8, UNC13D, STX11, STXBP2, OCLN, HEPACAM, IBA57, SLC25A1, PYCR2, BCAP31, RARS, LMNB1, POLR3A, POLR3B, PET100, APOPT1, PSAT1, FAM126A, COL4A2, PEX11B, AIMP1, DARS, ISCA2, VPS11, PLEKHG2, NADK2, TBCK
Specificity
1 %
Genes
50 %
|
D2HGDH.
By Division Human Genetics Medical University Innsbruck in Austria.
D2HGDH
Specificity
100 %
Genes
50 %
|
Invitae Organic Acidemias Panel.
By Invitae in United States.
MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19 , (...)
View the complete list with 29 more genes
MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19, ACADSB, PCCB, PCCA, ETHE1, D2HGDH, TAZ, MMADHC, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MLYCD, SUCLG1, OXCT1, IVD, L2HGDH, ETFB, ETFA, ETFDH, GCDH, ASPA, GSS, SLC25A1, SERAC1, FTCD, PPM1K, OPLAH
Specificity
5 %
Genes
100 %
|
Invitae 2-Hydroxyglutaric Aciduria Panel.
By Invitae in United States.
IDH2, D2HGDH, L2HGDH, SLC25A1
Specificity
50 %
Genes
100 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)
View the complete list with 372 more genes
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7
Specificity
1 %
Genes
50 %
|
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)
View the complete list with 484 more genes
HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATP7B, ATP8B1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, MMACHC, STAR, ELAC2, SDHAF2, ELN, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PRODH, HSD17B10, FOXC1, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, HARS, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, ACAT2, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, HSD3B2, TTC19, MTPAP, XPNPEP3, TAT, NDUFA10, NUBPL, G6PC, CYP24A1, CYP11A1, SCP2, IDH2, KARS, SPTLC2, GPI, ABAT, GFER, TMEM126A, SLC25A12, LDHA, ENO3, GATM, SPR, COX4I2, RPL35A, SDHB, SUCLA2, CYCS, MRPS22, GYS1, RARS2, ACAD8, DARS2, SLC25A3, TUFM, TSFM, MRPS16, HTRA2, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, SECISBP2, TK2, SLC25A22, GFM1, HADHB, PDP1, ATIC, UNG, NDUFA13, UCP2, COQ2, SPG7, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, DMGDH, CISD2, TAP1, SCO2, GAD1, TYMP, ETHE1, UCP1, UCP3, PPARGC1B, RNASEL, D2HGDH, PUS1, AGPS, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, ACSL4, ABCD1, MMADHC, SUOX, ALDH5A1, ALDH3A2, SARDH, AK2, PHYH, ALDH7A1, CYP27B1, PGAM2, PTS, QDPR, PAH, AGXT, TCIRG1, OAT, NME1, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, CYBA, ETFB, ETFA, ETFDH, GCDH, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, TPP1, CLN3, ANKRD26, SLC22A4, FECH, PPOX, OGG1, WWOX, MEN1, GPD2, CPOX, PNKD, AKAP10, PHB, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, SUGCT, MOGS, CPT1B, CFTR, CDKL5, FOXG1, DMPK, SLC2A1, SDHD, CLN6, CLN8, G6PD, CYBB, PEX2, PPT1, PEX7, SACS, PEX1, ABCC8, CLN5, GDAP1, SCN1A, CLCN1, SCN4A, ATXN7, CACNA1A, LRRK2, KCNJ11, PDX1, CLCNKB, SPAST, SPART, CACNA1S, RYR1, KCNJ2, KCNA1, TDP1, CHRNB2, KCNH2, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, CHRNA4, SCN5A, DNAJC5, MFSD8, CACNA2D1, NRXN1, SLC19A2, LARS2, KCNE1, KCNQ1, PEX6, NARS2, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PKLR, UROS, CLCN2, ABCC9, ANK2, RYR2, KCNE2, RSPH9, TFAM, PGK1, GNPAT, GNAS, TXNRD2, IMMP2L, ACACB, TFB1M, MRRF, NDUFS5, MARS2, COX4I1, NDUFA8, NDUFA7, NDUFV3, NDUFB6, COX10, SCO1, EARS2, DDC, HADH, AKT2, IDH1, INSR, AKT1, TPI1, HOGA1, PREPL, MED23, CLCN5, AAAS, COQ4, PMPCA, COA5, SLC27A4, FTH1, PEX11B, NTHL1, GLRA1, NOS3, BCL2, PCK1, DECR1, ABCD3, GPX4, NDUFB9, MOCOS, DISC1, CDC42BPB, FASN, NDUFA4, COQ5, PARP1, TXN2, MTHFD1, TIMM44, HSPA9, BCAT2, BCAT1, ARMS2, ACHE, TOMM40, TPH2, MDH1, MTHFS, MTHFD1L, FPGS, SHMT1, H6PD, GAD2, GLO1, HIGD2A, HSPB7, HSD3B1, NDUFA6, GLS, ECSIT, ECI1, HK2, NDUFB1, ATP10D, DMAC2, ACSL5, ACSM3, AS3MT, PPARGC1A, PTGES2, POLRMT, RAB11FIP5, MAVS, LETM1, IMMT, IDE, NIPSNAP3A, CLYBL, CHDH, CNR1, SIRT5, SLC25A39, SIRT1, SIRT3, TST, TOP1MT, USP24, NIPSNAP1, CKM, NPL, MGLL, MGST3, AGXT2, AKR7A2, MTCH2, MRPL48, BAX, MAOB, DDAH1, COX7A2, ENO1, GPAM, FAAH, TSPO, KYNU, PARL, ACLY, NDUFC2, NLRX1, PACRG, PAK5, PNMT
Specificity
1 %
Genes
100 %
|
D2HGDH.
By Fulgent Genetics Fulgent Genetics in United States.
D2HGDH
Specificity
100 %
Genes
50 %
|
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.
By Blueprint Genetics in Finland.
MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC , (...)
View the complete list with 33 more genes
MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MLYCD, SUCLG1, IVD, L2HGDH, CBS, ETFB, ETFA, ETFDH, GCDH, ABCD4, AHCY, SUGCT, GNMT, HCFC1, CD320, SLC25A1, SERAC1, CLPB, PEPD, UMPS, CTH, FLAD1, ADK
Specificity
4 %
Genes
100 %
|
Comprehensive Metabolism Panel.
By Blueprint Genetics in Finland.
HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)
View the complete list with 414 more genes
HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3
Specificity
1 %
Genes
100 %
|
Metabolic Epilepsy Panel.
By Blueprint Genetics in Finland.
MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR , (...)
View the complete list with 21 more genes
MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS1, HIBCH, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, AGA, SLC2A1, DPYD, GCH1, PNPO, PGK1, SLC46A1, SLC25A1, SERAC1, DHFR, GPHN, DPYS, SLC39A8
Specificity
3 %
Genes
50 %
|
Epileptic Encephalopathy Panel.
By Blueprint Genetics in Finland.
HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)
View the complete list with 108 more genes
HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6, ALDH7A1, NDUFS8, NDUFS7, NDUFAF6, MOCS1, SDHAF1, NDUFV1, NDUFS2, HIBCH, LRPPRC, COX6B1, WWOX, FARS2, SLC6A8, MTFMT, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CACNA1A, KIF1A, GABRB3, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHD2, GABRA1, GABRG2, GRIN2A, MBD5, ALG13, TBC1D24, BRAT1, DCX, FLNA, HNRNPU, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2B, CNTNAP2, ARHGEF9, SYN1, CASK, ZEB2, TREX1, CLCN4, NECAP1, ADAR, SCO1, HEPACAM, ASNS, SLC25A1, TBCE, SERAC1, TBCD, UBA5, ECHS1, FGF12, APOPT1, SLC12A5, GPHN, FAR1, UNC80, NACC1, LYRM7, HECW2, GTPBP3, MRPL44, RMND1, TBCK
Specificity
1 %
Genes
50 %
|
Leukodystrophy and Leukoencephalopathy Panel.
By Blueprint Genetics in Finland.
PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)
View the complete list with 54 more genes
PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1, MTFMT, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FA2H, FOLR1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, HTRA1, SOX10, CLCN2, TUBB4A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, RNASET2, CTC1, MARS2, SCO1, CSF1R, EARS2, HEPACAM, IBA57, PYCR2, SERAC1, RARS, RNF216, LMNB1, POLR3A, POLR3B, APOPT1, FAM126A, AIMP1, DARS, LYRM7, MRPL44, SNORD118
Specificity
2 %
Genes
50 %
|
Comprehensive Epilepsy Panel.
By Blueprint Genetics in Finland.
HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)
View the complete list with 263 more genes
HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2, DNM1L, NFU1, TTC19, NUBPL, ABAT, GAMT, STXBP1, DARS2, CTSD, SLC25A22, GFM1, GRN, GLDC, AMT, ETHE1, D2HGDH, AIFM1, SLC9A6, ABCD1, SUOX, ALDH5A1, ALDH3A2, ALDH7A1, PTS, QDPR, COX15, NDUFS8, NDUFS7, NDUFAF6, MOCS1, SDHAF1, NDUFV1, NDUFS2, NDUFAF5, HIBCH, GALC, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, COX6B1, CYP27A1, TPP1, CLN3, WWOX, FARS2, SLC6A8, MTFMT, AGA, ARSA, ASPA, ARX, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, PCDH19, PLP1, SLC2A1, TSC2, SYNGAP1, TSC1, CLN6, CLN8, PPT1, MLC1, SUMF1, CLN5, EIF2B5, DPYD, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, NOTCH3, CACNA1A, GCH1, CASR, KIF1A, FA2H, KCNA1, CACNB4, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, DCX, RELN, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, MAGI2, HNRNPU, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PIGN, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, PHF6, GRIA3, ARHGEF9, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, TREX1, GFAP, VPS13A, HTRA1, SOX10, MED12, NEU1, UBE2A, TAF1, CLCN4, NECAP1, CLCN2, MTOR, HACE1, TUBB4A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, PGK1, RNASET2, CTC1, MARS2, SCO1, CSF1R, SLC46A1, EARS2, DDC, HEPACAM, ASNS, IBA57, SLC25A1, GRIK2, CC2D1A, PYCR2, TBCE, SERAC1, TBCD, UBA5, GNB1, ECHS1, RARS, RNF216, FGF12, LMNB1, POLR3A, POLR3B, APOPT1, CERS1, FAM126A, DHFR, GLRB, SLC12A5, PIGT, GPHN, ECM1, AIMP1, FAR1, UNC80, DPYS, NACC1, KCNH1, DARS, LYRM7, WDR26, HECW2, GTPBP3, MRPL44, RMND1, TBCK, YY1, SLC39A8, SNORD118
Specificity
1 %
Genes
50 %
|
2-hydroxyglutaric aciduria.
By Bioarray in Spain.
D2HGDH
Specificity
100 %
Genes
50 %
|
2-Hydroxyglutaric Aciduria, Sequencing D2HGDH Gene.
By Reference Laboratory Genetics in Spain.
D2HGDH
Specificity
100 %
Genes
50 %
|
MyeloidDx by NGS.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)
View the complete list with 33 more genes
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX, PHF6, SETBP1, GATA1, NOTCH1, DNMT3A, EZH2, KDM6A, KMT2A, KIT, ASXL1, JAK3, CALR, GNAS, FLT3, NPM1, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1
Specificity
2 %
Genes
50 %
|
MyeloidDx by NGS.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)
View the complete list with 33 more genes
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX, PHF6, SETBP1, GATA1, NOTCH1, DNMT3A, EZH2, KDM6A, KMT2A, KIT, JAK3, CALR, GNAS, FLT3, NPM1, JAK2, ABL1, ZRSR2, U2AF1, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, TET2-AS1
Specificity
2 %
Genes
50 %
|
D-2-hydroxyglutaric aciduria 2 (sequence analysis of IDH2 gene).
By CGC Genetics in Portugal.
IDH2
Specificity
100 %
Genes
50 %
|
Acute myeloid leukemia (AML, sequence analysis of exon 4 of IDH2 gene).
By CGC Genetics in Portugal.
IDH2
Specificity
100 %
Genes
50 %
|
Glioma (sequence analysis of exon 4 of IDH2 gene).
By CGC Genetics in Portugal.
IDH2
Specificity
100 %
Genes
50 %
|
Glioma (methilation analysis of MGMT gene promoter and frequent mutations on IDH1 e IDH2 genes).
By CGC Genetics in Portugal.
IDH2, MGMT, IDH1
Specificity
34 %
Genes
50 %
|
Glioma (methilation analysis of MGMT gene promoter and frequent mutations on IDH1 e IDH2 genes).
By CGC Genetics in Portugal.
IDH2, MGMT, IDH1
Specificity
34 %
Genes
50 %
|
D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis.
By PreventionGenetics PreventionGenetics in United States.
IDH2
Specificity
100 %
Genes
50 %
|
IDH1 and IDH2 , targeted mutation testing.
By Molecular Diagnostics Laboratory University Health Network in Canada.
IDH2, IDH1
Specificity
50 %
Genes
50 %
|
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)
View the complete list with 323 more genes
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2, DHODH, PHKA2, PYGL, G6PC, IDH2, PHKG2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, HEXA, HEXB, PHKB, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFA1, MANBA, MAN2B1, CBS, PYGM, GBE1, SLC6A8, FGFR3, ASPA, ARX, GBA, BRAF, CDKL5, CHD7, CHRNA7, CREBBP, DHCR7, DMD, FOXG1, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, PEX2, MLC1, MCOLN1, PEX1, SUMF1, EIF2B5, NF1, FGFR1, MYH7, L1CAM, WASHC5, FHL1, KIF1A, MTM1, EMD, GRIN2B, GRIN2A, MBD5, DCX, PQBP1, FLNA, SRPX2, KMT2D, SETD2, NEXMIF, WDR45, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A, ANKRD11, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, VPS13B, GFAP, SALL1, ACTB, ACTG1, EDN3, POLR1C, PAX3, EDNRA, EDNRB, SNAI2, SOX10, TCOF1, PRPS1, PEX6, TFAP2A, POLR1D, FUCA1, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, FAT4, PEX26, PEX10, PEX12, RASA1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, CCDC22, THOC2, RAB23, POR, TWIST1, SPRED1, NSUN2, RASA2, RRAS, A2ML1, ABCC6, GNPTG, DNMT3A, NFIX, EZH2, RNF135, GLI3, ABCC9, GPSM2, MITF, TP63, MAGEL2, KDM6A, PITX1, ERCC6, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, PGK1, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, CTC1, TRIM37, GNAS, KIF7, CPLANE1, PIK3CA, GNAQ, ALX1, IDH1, INSR, PIK3R2, AKT3, AKT1, ERCC8, EPG5, PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15, ZNF674, TRAPPC9, GRIK2, CRBN, CC2D1A, ALX3, OBSL1, CCDC8, SNX14, SF3B4, HOXD13, ARHGAP31, FLNB, DDX3X, KAT6A, TRPS1, DOCK6, RBPJ, TBX3, DIS3L2, EOGT, DVL1, DCHS1, NOG, LMBR1, TXNL4A, DLL4, BCL11A, MED13L, STRADA, WAC, HERC2, NXF5, REV3L, PLXND1, NFATC2IP
Specificity
1 %
Genes
50 %
|
Syndromal Diseases - panels.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)
View the complete list with 322 more genes
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2, DHODH, PHKA2, PYGL, G6PC, IDH2, PHKG2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, HEXA, HEXB, PHKB, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFA1, MANBA, MAN2B1, CBS, PYGM, GBE1, SLC6A8, FGFR3, ASPA, ARX, GBA, BRAF, CDKL5, CHD7, CHRNA7, CREBBP, DHCR7, DMD, FOXG1, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, PEX2, MLC1, MCOLN1, PEX1, SUMF1, EIF2B5, NF1, FGFR1, MYH7, L1CAM, WASHC5, FHL1, KIF1A, MTM1, EMD, GRIN2B, GRIN2A, MBD5, DCX, PQBP1, FLNA, SRPX2, KMT2D, SETD2, NEXMIF, WDR45, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A, ANKRD11, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, VPS13B, GFAP, SALL1, ACTB, ACTG1, EDN3, POLR1C, PAX3, EDNRA, EDNRB, SNAI2, SOX10, TCOF1, PRPS1, PEX6, TFAP2A, POLR1D, FUCA1, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, FAT4, PEX26, PEX10, PEX12, RASA1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, CCDC22, THOC2, RAB23, POR, TWIST1, SPRED1, NSUN2, RASA2, RRAS, A2ML1, ABCC6, GNPTG, DNMT3A, NFIX, EZH2, RNF135, GLI3, ABCC9, GPSM2, MITF, TP63, MAGEL2, KDM6A, PITX1, ERCC6, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, PGK1, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, TRIM37, GNAS, KIF7, CPLANE1, PIK3CA, GNAQ, ALX1, IDH1, INSR, PIK3R2, AKT3, AKT1, ERCC8, EPG5, PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15, ZNF674, TRAPPC9, GRIK2, CRBN, CC2D1A, ALX3, OBSL1, CCDC8, SNX14, SF3B4, HOXD13, ARHGAP31, FLNB, DDX3X, KAT6A, TRPS1, DOCK6, RBPJ, TBX3, DIS3L2, EOGT, DVL1, DCHS1, NOG, LMBR1, TXNL4A, DLL4, BCL11A, MED13L, STRADA, WAC, HERC2, NXF5, REV3L, PLXND1, NFATC2IP
Specificity
1 %
Genes
50 %
|
D-2-hydroxyglutaric aciduria type II (IDH2).
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
IDH2
Specificity
100 %
Genes
50 %
|
Myeloid Tumor Panel.
By Centogene AG - the Rare Disease Company in Germany.
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)
View the complete list with 34 more genes
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX, PHF6, SETBP1, GATA1, NOTCH1, DNMT3A, EZH2, KDM6A, KMT2A, KIT, ASXL1, JAK3, CALR, GNAS, FLT3, NPM1, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC
Specificity
2 %
Genes
50 %
|
Cancer Hotspot Panel.
By Centogene AG - the Rare Disease Company in Germany.
BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)
View the complete list with 68 more genes
BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, TSC2, TSC1, ALK, ATM, PTCH1, NF2, CDH1, STK11, CDK4, CDKN2A, MET, SMAD4, MPL, NTRK1, NF1, FGFR1, CTNNB1, MTOR, ATR, NOTCH1, EZH2, SMARCB1, KIT, JAK3, GNAS, PIK3CA, MYCN, CSF1R, GNAQ, FLT3, NPM1, EGFR, JAK2, ABL1, PDGFRA, IDH1, FBXW7, GNA11, AKT1, SRC, CDK6, PDGFRB, KDR, CCND1, MDM2, DDR2, ERBB2, CDKN2B, SMO, BCL6, MYC, ERBB4, RICTOR, CD74, CCNE1, NRG1, KEAP1, GNG2, NFE2L2, ARAF, BRD4, EML4, GNA13, GNAI2, KIF5B, RPTOR, ROS1, MYCL
Specificity
2 %
Genes
50 %
|
Solid Tumor Panel.
By Centogene AG - the Rare Disease Company in Germany.
VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)
View the complete list with 42 more genes
VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM, PTCH1, CDH1, STK11, CDK4, CDKN2A, MET, SMAD4, NF1, FGFR1, KMT2D, CTNNB1, MTOR, NOTCH1, KDM6A, KMT2A, SMARCA4, SMARCB1, ARID1A, KIT, ASXL1, JAK3, GNAS, PIK3CA, GNAQ, EGFR, JAK2, ABL1, PDGFRA, IDH1, GNA11, AKT1, PIK3R1, PDGFRB, KDR, DDR2, ERBB2, SMO, AXL, ROS1, NTRK3, FGFR4, KMT2C
Specificity
2 %
Genes
50 %
|
Comprehensive mitochondrial disorders panel.
By Centogene AG - the Rare Disease Company in Germany.
MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)
View the complete list with 160 more genes
MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR, AMACR, CPS1, CPT2, OPA1, ABCB6, TRMU, PRODH, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, AFG3L2, CYP11B1, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, CYP11B2, MRPL3, ACO2, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, AGK, ALDH18A1, DGUOK, DIABLO, PDHB, ALDH6A1, SARS2, PCK2, NDUFAF1, HMGCL, HSD3B2, NDUFA10, CYP24A1, CYP11A1, SCP2, IDH2, CAVIN1, ABAT, SLC25A12, GATM, COX4I2, SOD2, SDHB, SUCLA2, CYCS, MRPS22, ACAD8, SLC25A3, HAX1, TUFM, TSFM, MRPS16, HTRA2, ALDH2, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, SCO2, RNASEL, OTC, PDHA1, GK, TIMM8A, ABCB7, MAOA, ACSL4, SLC9A6, SUOX, ALDH5A1, SARDH, AK2, CYP27B1, AGXT, OAT, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, CPT1A, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, COX6B1, CYP27A1, SLC25A20, FECH, PPOX, OGG1, CPOX, TMLHE, PDHX, SDHA, SDHD, BRIP1, PDX1, LARS2, COX10, SCO1, HADH, GSR, CRBN, BCL2, MIP, NDUFB9, TIMM44, HSPA9
Specificity
1 %
Genes
50 %
|
IDH2, selective sequencing of exon 4.
By Centogene AG - the Rare Disease Company in Germany.
IDH2
Specificity
100 %
Genes
50 %
|
Cardiovascular Diseases_General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)
View the complete list with 360 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B, ELN, EYA4, CPT2, WFS1, GNPTAB, GLB1, FOXC1, PITX2, JAG1, NPHP4, PCDH15, DSP, DLD, SLC25A4, GCK, FOXRED1, CRYAB, RAF1, OPA3, FBN1, MTO1, MRPL3, LIAS, GPD1, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, SLC39A13, MRPS22, SLC25A3, PNPLA2, TSFM, DNAJC19, GFM1, MEF2A, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, PYGM, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, COL5A1, COL5A2, SDHA, DOLK, BRAF, CHD7, CREBBP, DMD, FOXF1, GLA, HRAS, KRAS, LDLR, LEP, LIPA, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, BMPR1A, SMAD4, ENG, ADAMTS2, FKTN, MTTP, SGCA, SGCB, CAPN3, LMNA, PSEN2, APOE, NOTCH3, FKRP, CAV3, NF1, CEL, KCNJ11, INS, PDX1, HNF4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, RYR1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KMT2D, CACNA2D1, KANSL1, TBX1, CACNA1D, KCNE1, KCNQ1, MED12, FOXP1, EHMT1, CACNA1C, CTNNB1, LZTR1, RASA1, FOXP3, LAMP2, UPF3B, ZDHHC9, SPRED1, RASA2, RRAS, A2ML1, ABCB1, NODAL, FOXH1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, CHST14, ACVR1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, EFEMP2, KCNA5, BMPR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, AMPD1, TOR1AIP1, SPEG, VCL, ZMPSTE24, PRKG1, MFAP5, NOS1AP, SALL4, TBX5, EP300, GJA1, FHL2, B3GAT3, ABCG5, ABCG8, CYP2D6, OBSCN, TXNRD2, TMPO, ZIC3, GDF1, GATA4, EVC, IER3IP1, NPC1L1, CITED2, LEFTY2, CRELD1, ACVR2B, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, PDGFRA, INSR, CFC1, XK, TDGF1, COL7A1, NPPA, GJA5, NOTCH2, TBC1D4, CIDEC, PLIN1, AGPAT2, ZFPM2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, ADAMTSL4, GATA5, APOC3, LIPC, PLTP, CHRM2, CAVIN4, SLCO1B1, EIF2AK4, TBX20, MIB1, CALR3, ASPH, CALM3, MYLIP, SAR1B, TFAP2B, SMAD6, TAB2, TNNI3K, CYP3A4, INSIG2, LRP6, PKP4, KLF10, TRIM63, COA6, MED13L, KCND2, MRPL44, NKX2-6, CYP3A5, MCTP2, IRX4, SMAD1, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, SLC22A8, LPA, MYOM1, PPARA, NNT, SLC25A40, HAND2, GREM2, ISL1, TOPBP1, TRIB1, BMP10, CH25H
Specificity
1 %
Genes
50 %
|
Arrhythmia General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)
View the complete list with 198 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, OPA3, MTO1, MRPL3, LIAS, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, MRPS22, SLC25A3, TSFM, DNAJC19, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, FKTN, SGCA, SGCB, CAPN3, LMNA, PSEN2, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, CTNNB1, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NOTCH1, MYH11, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNK3, KCNA5, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, VCL, NOS1AP, TBX5, GJA1, FHL2, OBSCN, TXNRD2, TMPO, GATA4, GATA6, XK, COL7A1, NPPA, GJA5, AGPAT2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, GATA5, CHRM2, CAVIN4, TBX20, MIB1, CALR3, CALM3, TNNI3K, PKP4, KLF10, TRIM63, COA6, KCND2, MRPL44, NKX2-6, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, MYOM1, NNT, GREM2
Specificity
1 %
Genes
50 %
|
Hypertrophic cardiomyopathy extended panel.
By Health in Code in Spain.
TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)
View the complete list with 84 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, IDH2, MRPS22, SLC25A3, TSFM, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TCAP, LZTR1, LAMP2, KCNJ8, ANK2, RYR2, CASQ2, PDLIM3, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, FHL2, OBSCN, AGPAT2, OBSL1, COA5, CAVIN4, CALR3, KLF10, TRIM63, COA6, MRPL44, FHOD3, MYOM1
Specificity
1 %
Genes
50 %
|
Cardiomyopathies General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)
View the complete list with 153 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, OPA3, MTO1, MRPL3, LIAS, AGK, DNM1L, TMEM70, FAH, IDH2, MRPS22, SLC25A3, TSFM, DNAJC19, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, FKTN, SGCA, SGCB, LMNA, PSEN2, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, LAMA2, KCNH2, HCN4, SCN5A, KCNQ1, CTNNB1, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NOTCH1, KCNJ8, ABCC9, PKP2, ANK2, RYR2, CASQ2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, VCL, FHL2, OBSCN, TXNRD2, TMPO, GATA4, GATA6, XK, COL7A1, AGPAT2, OBSL1, COA5, CTNNA3, GATA5, CHRM2, CAVIN4, TBX20, MIB1, CALR3, TNNI3K, PKP4, KLF10, TRIM63, COA6, MRPL44, FOXD4, FHOD3, PERP, PPP1R13L, MYOM1, NNT
Specificity
1 %
Genes
50 %
|
IDH1 and IDH2 Exon 4 Mutation Detection.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
IDH2, IDH1
Specificity
50 %
Genes
50 %
|
IDH2 Exon 4 Mutation Detection.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
IDH2
Specificity
100 %
Genes
50 %
|
NGS HemeOnc Panel.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, DNMT3A, EZH2, KIT, ASXL1, SH2B3, FLT3, NPM1 , (...)
View the complete list with 9 more genes
RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, DNMT3A, EZH2, KIT, ASXL1, SH2B3, FLT3, NPM1, JAK2, ABL1, U2AF1, TET2, SRSF2, SF3B1, IDH1, ETV6, CSF3R
Specificity
4 %
Genes
50 %
|
AML post-FLT3 Comprehensive Mutation Panel.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
IDH2, CEBPA, DNMT3A, NPM1, IDH1
Specificity
20 %
Genes
50 %
|
TCA Cycle NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
PC, FH, ACO2, IDH3B, PDHB, PCK2, IDH2, SUCLA2, PDP1, PDHA1, SUCLG1, DLAT, PDHX, IDH1, MDH1
Specificity
7 %
Genes
50 %
|
IDH2.
By Fulgent Genetics Fulgent Genetics in United States.
IDH2
Specificity
100 %
Genes
50 %
|
Onco microarray for MDS/AML.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)
View the complete list with 40 more genes
RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, IDH1, ETV6, BCR, RUNX1T1, PDGFRB, TRPS1, PML, DEK, PICALM, CBFB, RARA, TCF3, PBX1, FIP1L1, NUP214, MLLT3, MLLT1, RPN1, MECOM, EGR1, RBM15, MYB, FOXO4, ERG, ELF4, NUP98, MRTFA, MLLT10, AFDN, ARHGAP26, ACSL6, AFF1, GAS6, ELL, SET
Specificity
2 %
Genes
50 %
|
IDH1 and IDH2 Mutations by Sanger Sequencing.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
IDH2, IDH1
Specificity
50 %
Genes
50 %
|
Focus::Myeloid™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)
View the complete list with 34 more genes
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX, PHF6, SETBP1, GATA1, NOTCH1, DNMT3A, EZH2, KDM6A, KMT2A, KIT, ASXL1, JAK3, CALR, GNAS, FLT3, NPM1, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC
Specificity
2 %
Genes
50 %
|
Focus::Myeloid™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)
View the complete list with 30 more genes
PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6, SETBP1, GATA1, NOTCH1, DNMT3A, EZH2, KDM6A, KMT2A, KIT, ASXL1, JAK3, CALR, GNAS, FLT3, NPM1, JAK2, ABL1, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CSF3R, CBLB, CBLC
Specificity
2 %
Genes
50 %
|
Focus::MDS™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, CEBPA, SETBP1, DNMT3A, EZH2, KDM6A, KMT2A, ASXL1, FLT3, JAK2, ZRSR2 , (...)
View the complete list with 7 more genes
RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, CEBPA, SETBP1, DNMT3A, EZH2, KDM6A, KMT2A, ASXL1, FLT3, JAK2, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, IDH1, ETV6
Specificity
4 %
Genes
50 %
|
Focus::MPN™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
RUNX1, TP53, IDH2, BCOR, CBL, CEBPA, MPL, SETBP1, GATA1, DNMT3A, EZH2, KIT, ASXL1, JAK3, CALR, FLT3, JAK2, ABL1, U2AF1, TET2 , (...)
View the complete list with 5 more genes
RUNX1, TP53, IDH2, BCOR, CBL, CEBPA, MPL, SETBP1, GATA1, DNMT3A, EZH2, KIT, ASXL1, JAK3, CALR, FLT3, JAK2, ABL1, U2AF1, TET2, SRSF2, SF3B1, MYD88, IDH1, CSF3R
Specificity
4 %
Genes
50 %
|
Focus::AML™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, GATA1, DNMT3A, EZH2, KDM6A, KMT2A , (...)
View the complete list with 17 more genes
RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, GATA1, DNMT3A, EZH2, KDM6A, KMT2A, KIT, ASXL1, CALR, FLT3, NPM1, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, IDH1, ETV6, CSF3R, BCORL1
Specificity
3 %
Genes
50 %
|
Focus::Oncomine™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)
View the complete list with 15 more genes
RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3, PIK3CA, GNAQ, EGFR, JAK2, PDGFRA, IDH1, GNA11, AKT1, DDR2, ERBB2, SMO, ERBB4, ROS1, ESR1, JAK1
Specificity
3 %
Genes
50 %
|
Somatic Overgrowth Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
PTEN, IDH2, TSC2, TSC1, RASA1, MTOR, PIK3CA, AKT2, GNAQ, IDH1, GNA11, PIK3R2, AKT3, AKT1, SMO
Specificity
7 %
Genes
50 %
|
Solid Tumor Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)
View the complete list with 102 more genes
BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS, MAP2K1, NRAS, SHOC2, SOS1, FGFR2, RIT1, MAP2K2, TSC2, TSC1, ALK, ATM, NF2, PALB2, CDH1, STK11, CDKN2A, MET, CHEK2, SMAD4, BRIP1, NTRK1, NF1, FGFR1, KMT2D, SETD2, ATRX, KDM5C, ERCC2, MED12, CTNNB1, SPRED1, MTOR, NOTCH1, TGFBR2, TERT, ERBB3, SMARCA4, SMARCB1, TEK, FLT4, KIT, GNAS, SMAD2, FANCA, BAP1, CDKN1B, GATA4, PIK3CA, CSF1R, POLD1, AKT2, FLT3, EGFR, JAK2, ABL1, PDGFRA, IDH1, FBXW7, POLE, PIK3R2, AKT3, AKT1, PIK3R1, NOTCH2, NTRK2, CDK6, PDGFRB, FLT1, KDR, MAP3K3, CCND1, CDK12, DDR2, ERBB2, AFF3, MN1, MYC, RXRA, FAT1, PPP2R1A, ERBB4, KEAP1, NFE2L2, ROS1, FGFR4, KMT2C, ESR1, ESR2, RAD54B, MYBL1, MYB, CDKN1A, DAXX, PBRM1, MCL1, JAK1, HIST1H3B, PIK3C2B, TRAF7, KLF4, H3F3A, BCL2L1
Specificity
1 %
Genes
50 %
|
Hematopoietic Disorders Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)
View the complete list with 34 more genes
RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1, NOTCH1, DNMT3A, EZH2, KDM6A, TERT, KMT2A, EP300, KIT, ASXL1, JAK3, CALR, CSF1R, FLT3, NPM1, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, IDH1, FBXW7, ETV6, CSF3R, IL7R, NOTCH2, PDGFRB, BIRC3, TET1, FGFR4, TSLP
Specificity
2 %
Genes
50 %
|
CNS Tumor Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)
View the complete list with 28 more genes
PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12, CTNNB1, MTOR, NOTCH1, DNMT3A, TERT, SMARCA4, SMARCB1, WNT1, PIK3CA, EGFR, PDGFRA, IDH1, AKT1, PIK3R1, NTRK2, ERBB2, MN1, SMO, MYC, CIC, MYBL1, MYB, FUBP1, DAXX, HIST1H3B, TRAF7, KLF4, H3F3A
Specificity
3 %
Genes
50 %
|
Maffucci syndrome Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
IDH2, IDH1
Specificity
50 %
Genes
50 %
|
Breast Tumors Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
BRCA1, BRCA2, PTEN, RUNX1, TP53, RB1, RET, IDH2, BRAF, HRAS, KRAS, MAP2K1, FGFR2, MAP2K2, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)
View the complete list with 22 more genes
BRCA1, BRCA2, PTEN, RUNX1, TP53, RB1, RET, IDH2, BRAF, HRAS, KRAS, MAP2K1, FGFR2, MAP2K2, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A, MET, CHEK2, BRIP1, FGFR1, GATA3, ERBB3, KIT, FANCA, PIK3CA, EGFR, IDH1, FBXW7, AKT1, PIK3R1, CDK6, KDR, ERBB2, ERBB4, RAC1, ESR1, ESR2, RAD54B
Specificity
3 %
Genes
50 %
|
FoundationOne® Heme.
By Foundation Medicine, Inc. in United States.
BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)
View the complete list with 385 more genes
BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC, RAF1, IDH2, SDHB, TUSC3, AMER1, BCOR, SOX2, STAT3, MEN1, SDHA, TSHR, FGFR3, AR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, MAP2K1, MEF2C, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, ALK, ATM, MRE11, PTCH1, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, CHEK2, SMAD4, RAD50, BRIP1, GATA2, PAX5, CEBPA, PRKAR1A, CDC73, BARD1, MPL, BTK, DNM2, NTRK1, NF1, LRRK2, FGFR1, FGF23, PDK1, FGF14, CHD2, GRIN2A, RELN, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, PAK3, KDM5C, SETBP1, ACTB, HGF, SOX10, FGF3, GATA3, S1PR2, MED12, FOXP1, CTNNB1, GATA1, TAF1, ZMYM3, MTOR, ATR, NOTCH1, TGFBR2, DNMT3A, EZH2, MITF, TP63, KDM6A, CTNNA1, MAF, NKX2-1, ERBB3, ARID2, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, EP300, KIT, ASXL1, JAK3, GNAS, SMAD2, FANCA, FANCG, FANCF, FANCE, FANCL, FANCD2, BAP1, CDKN1B, PIK3CA, MYCN, CSF1R, AKT2, GNAQ, CD36, FLT3, NPM1, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, BCORL1, IL7R, GNA11, PIK3R2, AKT3, AKT1, FAS, CXCR4, STAT5B, NFKBIA, CIITA, PIK3R1, PRKDC, TYK2, NOTCH2, TRAF3, POT1, CARD11, NTRK2, CCND2, MAP3K1, ICK, SRC, CDK6, FBXO31, CTCF, PDGFRB, RAD51, NSD2, WISP3, FLT1, KDR, TNFAIP3, NCSTN, PLCG2, B2M, CD79A, CD79B, DDX3X, KAT6A, MIB1, CCND1, BCL2, HDAC4, CDK12, MALT1, IGF1R, MDM2, DDR2, MAFB, MSH3, ERBB2, CBFB, RARA, TCF3, PTPRO, CDKN2B, SMO, BCL6, MYC, BIRC3, CKS1B, CDKN2C, RNF43, NUP93, CAD, CD70, AXL, CIC, ELP2, MAP3K7, PPP2R1A, ERBB4, EED, KDM5A, RICTOR, CCNE1, KEAP1, NFE2L2, ARAF, BRD4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, ESR1, IRF8, BCL10, XBP1, INHBA, CRLF2, AXIN1, MAP3K14, MAPK1, CRKL, PIK3CG, IRS2, IRF4, IRF1, GSK3B, CD58, NOD1, CD22, CCND3, CDK8, CCT6B, MYO18A, CD274, GADD45B, FOXO3, FRS2, ETS1, TENT5C, FHIT, ERG, FAF1, FBXO11, FGF6, EPHA7, ECT2L, EPHA5, DOT1L, EBF1, EPHA3, EPHB1, PDCD1LG2, PDCD11, DAXX, PBRM1, PDCD1, PASK, PCBP1, PCLO, NUP98, CHEK1, BTG2, MKI67, BCL7A, EMSY, MCL1, BTLA, MAGED1, MAP2K4, MDM4, ARHGAP26, ARFRP1, AURKB, BCL2L2, APH1A, LEF1, LRP1B, JARID2, HSP90AA1, IKZF3, INPP4B, IKBKE, KLHL6, KDM4C, JUN, JAK1, KDM2B, ID3, IKZF2, INPP5D, HIST1H2BJ, HDAC7, HIST1H2AL, HIST1H1E, HIST1H2AM, HIST1H2AC, HIST1H2BC, HIST1H2BO, HIST1H2BK, HIST1H1D, GTSE1, HDAC1, HIST1H1C, HIST1H3B, HIST1H2AG, PRDM1, PIM1, TRAF5, U2AF2, TNFRSF14, TNFRSF17, TRAF2, TMEM30A, ZNF217, XPO1, TLL2, WDR90, ZNF24, YY1AP1, STAT4, SPOP, STAT5A, SOCS1, SPEN, SOCS2, TCL1A, SOCS3, STAT6, SGK1, PRSS8, RASGEF1A, PTPN2, PTPN6, ADGRA2, FOXO1, BCL11B, RHOA, FGF19, BRSK1, ASMTL, DTX1, NCOR2, DUSP2, SUZ12, SMARCA1, FGF4, MAP3K6, P2RY8, TOP1, AURKA, DUSP9, EXOSC6, GNA12, MEF2B, PAG1, FLYWCH1, ZNF703, SERP2, GID4, TMSB4X
Specificity
1 %
Genes
50 %
|
Guardant360.
By Guardant Health in United States.
BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)
View the complete list with 53 more genes
BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, RIT1, MAP2K2, TSC1, ALK, ATM, CDH1, STK11, CDK4, CDKN2A, MET, SMAD4, MPL, NTRK1, NF1, FGFR1, GATA3, CTNNB1, MTOR, NOTCH1, EZH2, TERT, ARID1A, KIT, JAK3, GNAS, PIK3CA, GNAQ, NPM1, EGFR, JAK2, PDGFRA, IDH1, FBXW7, GNA11, AKT1, CCND2, CDK6, CCND1, DDR2, ERBB2, SMO, MYC, CCNE1, NFE2L2, ARAF, ROS1, NTRK3, ESR1, MAPK1, RHEB, RHOA, MAPK3
Specificity
2 %
Genes
50 %
|
Comprehensive Panel for Individualized Cancer Threatment.
By GeneKor MSA in Greece.
VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)
View the complete list with 32 more genes
VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A, SMAD4, MPL, NTRK1, FGFR1, HGF, CTNNB1, NOTCH1, EZH2, SMARCB1, KIT, JAK3, GNAS, PIK3CA, CSF1R, GNAQ, FLT3, NPM1, EGFR, JAK2, ABL1, PDGFRA, IDH1, FBXW7, GNA11, AKT1, SRC, KDR, DDR2, ERBB2, SMO, ERBB4, ROS1
Specificity
2 %
Genes
50 %
|
Cancer Hotspot Analysis.
By Advanced Technology Laboratory Spectrum Health in United States.
VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)
View the complete list with 30 more genes
VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A, MET, SMAD4, MPL, FGFR1, CTNNB1, NOTCH1, EZH2, SMARCB1, KIT, JAK3, GNAS, PIK3CA, CSF1R, GNAQ, FLT3, NPM1, EGFR, JAK2, ABL1, PDGFRA, IDH1, FBXW7, GNA11, AKT1, SRC, KDR, ERBB2, SMO, ERBB4
Specificity
2 %
Genes
50 %
|
Circulo Hematological.
By Circulogene Theranostics in United States.
IDH2
Specificity
100 %
Genes
50 %
|
NeoTYPE® Discovery Profile for Solid Tumors.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)
View the complete list with 295 more genes
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH, IDH2, SDHB, AMER1, BCOR, PRKN, SOX2, STAT3, MEN1, SDHA, TSHR, FGFR3, AR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, CBL, TSC1, NSD1, ALK, ATM, MRE11, PTCH1, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, CHEK2, SMAD4, RAD50, BRIP1, GATA2, PAX5, CEBPA, PRKAR1A, CDC73, BARD1, MPL, BTK, NTRK1, NOTCH3, NF1, FGFR1, FGF23, PDK1, FGF14, CHD2, GRIN2A, KMT2D, MAGI2, SETD2, ATRX, PAK3, KDM5C, HGF, SOX10, FGF3, GATA3, MED12, FOXP1, ARID1B, CTNNB1, LZTR1, GATA1, RBM10, TAF1, SOX9, MTOR, ATR, NOTCH1, SMAD3, TGFBR2, DNMT3A, EZH2, MITF, KDM6A, CTNNA1, TERC, TERT, NKX2-1, ERBB3, ARID2, KMT2A, SMARCA4, SMARCB1, ARID1A, FLT4, FGF10, KIT, ASXL1, JAK3, GNAS, SMAD2, FANCA, FANCG, FANCF, FANCE, FANCL, FANCD2, BAP1, CDKN1B, VEGFA, GATA4, PIK3CA, MYCN, CSF1R, POLD1, AKT2, GATA6, GNAQ, FLT3, NPM1, EGFR, JAK2, ABL1, U2AF1, TET2, STAG2, SF3B1, PDGFRA, MYD88, IKZF1, FBXW7, BCORL1, IL7R, POLE, GNA11, PIK3R2, AKT3, AKT1, FAS, SPTA1, NFKBIA, RANBP2, PIK3R1, PRKDC, NOTCH2, CARD11, NTRK2, CCND2, MAP3K1, SRC, RUNX1T1, CDK6, CTCF, DICER1, PDGFRB, RAD51, WISP3, CYLD, FLT1, KDR, TNFAIP3, LYN, PLCG2, CUL3, CD79A, CD79B, KEL, KAT6A, CCND1, BCL2, TBX3, CDK12, ABL2, IGF1R, MDM2, DDR2, ERBB2, CBFB, SNCAIP, RARA, CDKN2B, SMO, BCL6, MYC, CDKN2C, RNF43, FAT1, NUP93, AXL, CIC, PPP2R1A, ERBB4, KDM5A, RICTOR, RAC1, GLI1, IGF2, CCNE1, KEAP1, NFE2L2, ARAF, BRD4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, ESR1, INHBA, CRLF2, AXIN1, EP300-AS1, PIK3CB, CRKL, PIK3CG, HSD3B1, IRS2, IRF4, GRM3, GSK3B, CDKN1A, CCND3, CDK8, CDH4, CD274, FUBP1, GABRA6, FRS2, TENT5C, ERG, ERRFI1, FGF6, EPHA7, EPHA5, DOT1L, EPHA3, EPHB1, PDCD1LG2, DAXX, PBRM1, CHEK1, EMSY, MCL1, MAP2K4, MDM4, ARFRP1, LMO1, AURKB, BCL2L2, LRP1B, HSP90AA1, INPP4B, IKBKE, IRF2, KLHL6, JUN, JAK1, PRDM1, PREX2, PRKCI, PIK3C2B, TOP2A, TNFRSF14, ZNF217, ZBTB2, XPO1, STAT4, SPOP, SOCS1, SLIT2, SPEN, SYK, PRSS8, QKI, ACVR1B, ADGRA2, BTG1, H3F3A, BCL2L1, FGF19, FGF4, TOP1, AURKA, MEF2B, ZNF703, GID4, IDH1-AS1
Specificity
1 %
Genes
50 %
|
Caris MI TumorSeek 592-Gene NGS Panel.
By Caris Life Sciences in United States.
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)
View the complete list with 571 more genes
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2, RET, ELN, CASP8, SDHC, RAF1, FH, IDH2, SDHB, ALDH2, ATIC, AMER1, BCOR, SOX2, NCOA4, SEPT9, STAT3, MEN1, TSHR, FGFR3, AR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, RAD21, CBL, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, BARD1, PMS1, MPL, WAS, BTK, NDRG1, DNM2, NTRK1, CNBP, NF1, FGFR1, FGF23, PDK1, FUS, TPM3, FGF14, GRIN2A, STIL, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, PAK3, KDM5C, SETBP1, CACNA1D, HGF, ERCC2, ERCC3, PAX3, SOX10, FGF3, GATA3, MYH9, MED12, FOXP1, CTNNB1, KAT6B, GATA1, RPL5, CANT1, RPL10, MTOR, ATR, NOTCH1, TGFBR2, MYH11, DNMT3A, EZH2, MITF, KCNJ5, AKAP9, KDM6A, TFG, CTNNA1, MAF, TERT, NKX2-1, PRDM16, ERBB3, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, EP300, KIT, ASXL1, JAK3, SH2B3, CALR, GNAS, CREB3L1, SMAD2, FANCA, FANCG, FANCF, FANCE, FANCL, FANCD2, CYP2D6, BAP1, CDKN1B, VEGFA, ERCC4, PIK3CA, MYCN, CSF1R, AKT2, GNAQ, HOXA11, FLT3, NPM1, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CSF3R, CBLB, BCORL1, CBLC, IL7R, POLE, GNA11, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ITK, STAT5B, PTPRC, BCR, NFKBIA, CIITA, NFKB2, CTLA4, PIK3R1, PRKDC, NOTCH2, POT1, CARD11, AFF4, NTRK2, MNX1, CCND2, HOXA13, MAP3K1, SRC, RUNX1T1, FLI1, MUC1, CDK6, KNL1, EZR, CTCF, NIN, TCF12, WRN, PAX8, DICER1, PDGFRB, PDGFB, ATP2B3, CAMTA1, ERCC5, XPA, RAD51, BUB1B, NSD2, WISP3, HOXD13, CYLD, FLT1, KDR, ZNF384, TNFAIP3, KDSR, KIAA1549, LIFR, TRIP11, CD79A, CD79B, KAT6A, XPC, CCND1, BCL2, CDK12, DDB2, ABL2, IL21R, MALT1, ETV5, IGF1R, MDM2, DDR2, GPHN, RNF213, MAFB, CHN1, PML, DEK, NUMA1, PICALM, HNRNPA2B1, ERBB2, CBFB, ERCC1, RARA, TCF3, PBX1, FIP1L1, ZBTB16, TAL1, AFF3, NUP214, MN1, MLLT3, CLP1, MLLT1, CDKN2B, YWHAE, SMO, BCL6, MYC, BIRC3, RPN1, MECOM, CDKN2C, HOXC13, RNF43, NUP93, PRRX1, CLTCL1, NONO, AXL, BCL11A, TET1, CIC, SLC34A2, CLTC, PPP2R1A, ERBB4, ATP1A1, KDM5A, RALGDS, RICTOR, RAC1, CD74, CCNE1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, KIF5B, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, SS18L1, ESR1, BCL10, IL2, LCK, INHBA, MLF1, CRLF2, ABI1, AXIN1, UBR5, EWSR1, TAF15, RHOH, PAX7, CRKL, PIK3CG, FOXA1, RBM15, CREB1, IRS2, PCM1, HMGA1, IRF4, HMGA2, HIP1, GOLGA5, TCF7L2, GSK3B, GOPC, NCKIPSD, NACA, CDX2, CCNB1IP1, CDH11, MYB, NFIB, CCND3, CDK8, NCOA1, CD274, NCOA2, FUBP1, GAS7, FOXO3, FOXO4, TENT5C, FHIT, ERG, FBXO11, ERC1, FCRL4, FGF6, FEV, ELF4, ECT2L, EPS15, EPHA5, DOT1L, EBF1, EPHA3, EIF4A2, PER1, ELK4, EPHB1, PDCD1LG2, DDX10, PAFAH1B2, DAXX, DDIT3, PBRM1, PDCD1, DDX5, PCSK7, PATZ1, DDX6, PDE4DIP, CNTRL, COPB1, CRTC3, CRTC1, OMD, NUP98, CNOT3, CHIC2, CHEK1, CHCHD7, CARS, NUTM1, MSN, BCL7A, WDCP, MAML2, EMSY, MCL1, MRTFA, BRD3, BCL9, MAP2K4, MLLT10, MDM4, MLLT11, AFDN, LHFPL6, ARHGAP26, ARFRP1, LASP1, LRIG3, ATF1, KTN1, LMO1, AURKB, BCL2L2, ARHGEF12, BCL2L11, ARNT, LPP, LGR5, LCP1, LRP1B, ASPSCR1, KLK2, HSP90AA1, HSP90AB1, IKBKE, JAZF1, IL6ST, KLHL6, HOXA9, HOOK3, JUN, JAK1, HEY1, HIST1H3B, HERPUD1, PRDM1, POU5F1, PIM1, POU2AF1, PRCC, PLAG1, VTI1A, TMPRSS2, USP6, VEGFB, TRIM26, TNFRSF14, TRRAP, TRAF7, TPR, TTL, TNFRSF17, TLX3, TRIM27, ZMYM2, ZNF521, ZNF217, XPO1, WWTR1, TFPT, SEPT5, TFRC, NSD3, THRAP3, ZNF331, SRSF3, TCEA1, SRGAP3, STAT4, SS18, SSX1, SPOP, SOCS1, SNX29, SPEN, SPECC1, TCL1A, SYK, SLC45A3, REL, SH3GL1, SDC4, RPL22, RAD51B, RANBP17, PSIP1, RABEP1, ACKR3, ACSL6, AFF1, ACSL3, ADGRA2, BTG1, ELL, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, TFEB, ETV4, NUTM2B, BCL11B, KLF4, H3F3A, FGF19, SUZ12, FGF4, P2RY8, TOP1, AURKA, MEF2B, ZNF703, GID4, H3F3B, TRIM33, WIF1, GMPS, SFPQ, LYL1, MDS2, FGFR1OP, RAP1GDS1, FNBP1, LMO2, HOXC11, TAL2, SEPT6, MLLT6, HLF, COX6C, OLIG2, C15orf65, TPM4, RMI2, FSTL3, CBFA2T3, CCDC6, TLX1, HIST1H4I, HOXD11, MTCP1
Specificity
1 %
Genes
50 %
|
OmniSeq Comprehensive.
By OmniSeq, Inc. in United States.
BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)
View the complete list with 124 more genes
BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, CBL, TSC1, ALK, ATM, PTCH1, NF2, CDH1, STK11, CDK4, CDKN2A, MET, CHEK2, MAX, SMAD4, GATA2, PAX5, MPL, BTK, NTRK1, NF1, FGFR1, GATA3, MED12, CTNNB1, MTOR, NOTCH1, DNMT3A, EZH2, ACVRL1, TERT, NKX2-1, ERBB3, SMARCB1, KIT, JAK3, GNAS, BAP1, PIK3CA, MYCN, CSF1R, GNAQ, FLT3, NPM1, EGFR, JAK2, ABL1, U2AF1, TET2, SF3B1, PDGFRA, MYD88, IDH1, FBXW7, GNA11, AKT3, AKT1, PIK3R1, NTRK2, SRC, CDK6, KDR, CCND1, ETV5, IGF1R, MDM2, DDR2, ERBB2, SMO, MYC, BIRC3, AXL, PPP2R1A, ERBB4, RAC1, IL6, CCNE1, NFE2L2, ARAF, ROS1, MYCL, NTRK3, FGFR4, ESR1, MAPK1, CD44, IFITM3, MYO18A, CD274, ERG, PDCD1LG2, DCUN1D1, CSNK2A1, MAGOH, MCL1, BIRC2, BCL9, MDM4, ATP11B, APEX1, IFITM1, KNSTRN, JAK1, ZNF217, XPO1, TIAF1, SPOP, RHEB, RPS6KB1, GAS6, ETV1, ETV4, BCL2L1, RHOA, NKX2-8
Specificity
1 %
Genes
50 %
|
MULTIPLE ENCHONDROMATOSIS (OLLIER SYNDROME).
By Laboratorio de Genetica Clinica SL in Spain.
IDH2, PTH1R, IDH1
Specificity
34 %
Genes
50 %
|
Solid Tumor Targeted Mutation and Fusion Panel.
By Providence Regional Laboratories Providence Health and Services in United States.
PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)
View the complete list with 30 more genes
PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR, ERBB3, KIT, JAK3, PIK3CA, MYCN, GNAQ, EGFR, JAK2, ABL1, PDGFRA, IDH1, GNA11, AKT3, AKT1, NTRK2, CDK6, CCND1, DDR2, ERBB2, SMO, MYC, AXL, ERBB4, ROS1, NTRK3, FGFR4, ESR1, ERG, JAK1, ETV1
Specificity
2 %
Genes
50 %
|
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.
By Reference Laboratory Genetics in Spain.
RUNX1, TP53, WT1, IDH2, KRAS, NSD1, GATA2, CEBPA, DNMT3A, TERC, TERT, KIT, ASXL1, FLT3, NPM1, JAK2, IDH1, PICALM, CBFB, LPP , (...)
View the complete list with 1 more genes
RUNX1, TP53, WT1, IDH2, KRAS, NSD1, GATA2, CEBPA, DNMT3A, TERC, TERT, KIT, ASXL1, FLT3, NPM1, JAK2, IDH1, PICALM, CBFB, LPP, SH3GL1
Specificity
5 %
Genes
50 %
|
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes.
By Reference Laboratory Genetics in Spain.
BRCA2, PTEN, TP53, RB1, IDH2, PRKN, BRAF, LGI1, PIK3CA, EGFR, IDH1, ERBB2
Specificity
9 %
Genes
50 %
|
152 Integrated Advantage NGS Solid Tumor Panel.
By Integrated Molecular Diagnostics Pathology, Inc. in United States.
BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)
View the complete list with 132 more genes
BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, CBL, TSC1, ALK, ATM, MRE11, STK11, CDK4, CDKN2A, MET, CHEK2, SMAD4, RAD50, RAD51C, UGT1A1, DPYD, NTRK1, NF1, FGFR1, ATRX, HGF, ERCC2, MED12, CTNNB1, GATA1, MTOR, ABCB1, ATR, NOTCH1, TGFBR2, EZH2, MITF, ERBB3, FLT4, EP300, KIT, JAK3, GNAS, SPARC, FANCA, CYP2C19, FANCD2, CYP2D6, CDKN1B, PIK3CA, MYCN, CSF1R, AKT2, GNAQ, FLT3, TPMT, EGFR, JAK2, TET2, PDGFRA, MYD88, IDH1, FBXW7, GNA11, PIK3R2, AKT3, AKT1, PIK3R1, NOTCH2, PRKCD, MAP3K1, SRC, PDGFRB, ERCC5, XPA, RAD51, FLT1, KDR, TNFAIP3, SLCO1B1, DHFR, XPC, CCND1, BCL2, IGF1R, MDM2, DDR2, ERBB2, ERCC1, SMO, MYC, AXL, ERBB4, PARP1, CCNE1, KEAP1, NFE2L2, RPTOR, ROS1, FGFR4, ESR1, RRM1, CYP2B6, GSTP1, GSK3B, CDKN1A, CCND3, CDK8, EPHA3, CYP2C8, DAXX, PBRM1, CHEK1, EMSY, MAP2K4, MDM4, AURKB, BCL2L2, IKBKE, JUN, JAK1, PLK1, TOP2B, TOP2A, XRCC1, SULT1A1, SYK, STK11IP, SLC29A1, ABCC1, TOP1, AURKA
Specificity
1 %
Genes
50 %
|
Tempus xT assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)
View the complete list with 571 more genes
BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1, SDHAF2, HNF1B, RET, MC1R, MTRR, CASP8, CYP1B1, KIF1B, SDHC, RAF1, FH, IDH2, SOD2, SDHB, TUSC3, ATIC, TAP1, AMER1, BCOR, PRKN, SOX2, ZFHX3, TMEM127, STAT3, MEN1, SDHA, TSHR, FGFR3, AR, CFTR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, FGFR2, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, ENG, PMS1, RAD51D, G6PD, UGT1A1, MPL, BTK, DPYD, DNM2, LMNA, NTRK1, NOTCH3, NF1, FGFR1, FGF8, CASR, FGF23, PDK1, FGF14, CHD2, GRIN2A, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, KDM5C, SETBP1, HGF, ERCC2, ERCC3, SOX10, FGF3, GATA3, MED12, FOXP1, ARID1B, CTNNB1, LZTR1, GATA1, RPL5, RASA1, SEC23B, FANCB, DKC1, RBM10, TAF1, SOX9, SPRED1, MTOR, ABCB1, ATR, NOTCH1, SMAD3, TGFBR2, ACTA2, MYH11, DNMT3A, EZH2, MITF, TP63, KDM6A, CTNNA1, MAF, TERT, NKX2-1, TPM1, ERBB3, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, SPINK1, PRSS1, CTRC, H19, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, CTC1, NHP2, NOP10, GNAS, SMAD2, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, VEGFA, ERCC4, RPS15, GATA4, PIK3CA, MYCN, CSF1R, APOB, POLD1, GREM1, AKT2, GATA6, GNAQ, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, IFNGR1, IFNGR2, IL7R, ABRAXAS1, POLE, AXIN2, GNA11, PIK3R2, AKT3, AKT1, FAS, CXCR4, STAT5B, BCR, PIK3CD, NFKBIA, CIITA, RANBP2, CTLA4, IL10RA, PIK3R1, CD19, MS4A1, NOTCH2, EPOR, TRAF3, TMEM173, POT1, CARD11, NTRK2, IL2RA, CCND2, DYNC2H1, MAP3K1, ASNS, SRC, RUNX1T1, CDK6, CTCF, WRN, EGLN1, UBE2T, PAX8, DICER1, PDGFRB, KMT2B, ERCC5, XPA, RAD51, BUB1B, GALNT12, NSD2, CYLD, FLG, FLT1, KDR, TNFAIP3, LYN, PLCG2, B2M, CD79A, CD79B, FCGR2A, HLA-DQB1, HLA-B, KEL, HLA-DQA1, TYMS, HOXB13, NTHL1, DDX3X, KAT6A, MIB1, XPC, UMPS, FGF9, CCND1, SLC26A3, BCL2, HDAC4, IFNL3, TBX3, CDK12, ARID5B, POLH, MTAP, DIS3L2, DDB2, ABL2, MALT1, MLH3, ETV5, MDM2, DDR2, PALLD, EGF, MAFB, PML, MSH3, ERBB2, CBFB, ERCC1, RARA, TCF3, MLLT3, EPHA2, CDKN2B, CEP57, PTCH2, SMO, BCL6, MYC, BIRC3, CKS1B, CDKN2C, RNF43, RXRA, FAT1, MAD2L2, CD70, AXL, CHD4, CIC, MAP3K7, PPP2R1A, ERBB4, KDM5A, RICTOR, RAC1, GLI1, HLA-DRB1, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, ESR1, RINT1, CYP3A5, XRCC3, PRSS2, BCL10, TNF, CRLF2, AXIN1, EWSR1, FCGR3A, TAP2, PAX7, MAPK1, PIK3CB, CRKL, PIK3CG, FOXA1, GSTP1, IRS2, IRF4, IFNAR2, IL6R, IRF1, DIRC2, EPHB2, ZNF750, RNF139, TCF7L2, RAD54L, PTPN22, GRM3, GPS2, CBR3, MYB, NQO1, CD22, CDKN1A, CCND3, CDK8, NCOR1, CD274, FUBP1, FOXO3, FRS2, FNTB, GEN1, FGF2, ETS1, FGF5, FDPS, TENT5C, FHIT, ERG, FGF1, FGF7, ETS2, FBXO11, ERRFI1, FGF6, EPHA7, ELF3, ECT2L, DOT1L, EBF1, EPHB1, PDCD1LG2, DAXX, PBRM1, PDCD1, PCBP1, DIS3, PAK1, NUP98, NUDT15, CHEK1, VSIR, MKI67, BCL7A, EMSY, BCLAF1, MCL1, C3orf70, MAP2K4, MDM4, C11orf65, ARHGAP26, LMO1, AURKB, ARHGAP35, BCL2L11, LEF1, LRP1B, ITPKB, HSP90AA1, IL15, INPP4B, ING1, IKBKE, IRF2, KLHL6, IFIT1, KLLN, JUN, IFIT3, JAK1, IDO1, IFNAR1, IFIT2, AJUBA, HSPH1, HLA-F, HLA-DRA, HIF1A, HDAC2, HIST1H4E, HAVCR2, HIST1H1E, HLA-DPA1, HLA-DPB1, HLA-E, HLA-DOA, HDAC1, HLA-DMB, HLA-DMA, HLA-DOB, HAS3, HLA-DQA2, HLA-DQB2, PIAS4, PRDM1, PIM1, PPP1R15A, PREX2, PPP2R2A, PIK3C2B, PRCC, TMPRSS2, UGT1A9, TOP2A, TNFRSF9, TNFRSF14, TNFRSF17, ZNF217, XPO1, TIGIT, XRCC1, ZNF620, ZNF471, STAT4, TANC1, SPOP, STAT5A, SOCS1, SLIT2, SPEN, TCL1A, SYK, STAT6, SLC47A2, RSF1, SCG5, SGK1, RPS6KB1, PTPN13, RAD51B, QKI, PTPRD, ABCC3, ACVR1B, BTG1, ETV1, FOXO1, ETV4, HLA-A, BCL11B, H3F3A, BCL2L1, RHOA, NCOR2, SUZ12, SMARCA1, FGF4, P2RY8, TOP1, AURKA, MEF2B, CCDC6, LAG3, HLA-G, PDPK1, SEMA3C, C8orf34, POU2F2, YEATS4, WEE1, TBC1D12, FOXQ1, ZNRF3, PPP6C, HLA-C, HLA-DRB5
Specificity
1 %
Genes
50 %
|
Tempus xO assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)
View the complete list with 1693 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG, LRP5, COL3A1, STAT1, WT1, PAX6, TGFB1, TLR4, RB1, PSEN1, SDHAF2, HNF1B, RET, MC1R, CASP8, COMT, SHH, DSP, KIF1B, SDHC, RAF1, FH, FBN1, GOT1, PRPF6, MERTK, IDH2, SDHB, HAX1, CTSD, PHOX2A, MAOA, AMER1, BCOR, PRKN, PPP2R1B, SOX2, CYP17A1, NCOA4, ZFHX3, TMEM127, STAT3, MEN1, PAX2, PLA2G2A, PHB, TEAD1, MAK, SDHA, IL2RG, TSHR, FGFR3, AR, ARX, ELP1, FANCC, BLM, BRAF, CHD7, CREBBP, FOXG1, GLA, HRAS, KRAS, LDLR, LEPR, MAP2K1, NRAS, PTPN11, RUNX2, SHOC2, SOS1, TINF2, VDR, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, G6PD, UGT1A1, MPL, WAS, BTK, PKHD1, DPYD, NDRG1, EGR2, DNM2, LMNA, NTRK1, WNK1, PSEN2, NOTCH3, PPP2R2B, TBP, NF1, LRRK2, NR0B1, FGFR1, LHCGR, GNRHR, FGF8, HSD11B2, CYP21A2, GHR, FGF23, MYH7, PDK1, CACNA1S, RYR1, FUS, MYBPC3, SYNE1, TMEM43, SMCHD1, MUSK, FGF14, MCPH1, KCNH2, CHD2, GRIN2A, SCN5A, KMT2D, MAGI2, SETD2, TBL1XR1, TCF4, ATRX, PHF6, PAK3, KDM5C, CUL4B, SETBP1, ZEB2, HGF, ERCC2, ERCC3, DIAPH1, DNMT1, PAX3, SOX10, KCNQ1, PTPRQ, CDC14A, FGF3, GATA3, ROR1, DIAPH3, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, ARID1B, CTNNB1, LZTR1, FAT4, KAT6B, GATA1, RPL5, RASA1, FOXP3, PHF8, AFF2, FANCB, DKC1, USP9X, RBM10, BRWD3, TAF1, SOX3, KLF8, ZMYM3, CDK16, RAB23, POR, TWIST1, SOX9, SPRED1, MTOR, ABCB1, GLI2, ATR, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, PRDM5, ACVR1, DNMT3A, NFIX, EZH2, GLI3, CACNB2, PKP2, MITF, RYR2, KCNJ5, AKAP9, TP63, KDM6A, TFG, CTNNA1, CDH3, MAF, TERC, BMPR1B, TERT, SMAD9, CSF2RA, CSF2RB, NKX2-1, ACTC1, PRDM16, NKX2-5, TNNI3, PRKAG2, DSG2, JUP, TPM1, TNNT2, DSC2, MYL2, MYL3, NEK2, NEK9, RIPK4, ERBB3, ARID2, SMARCE1, HELLS, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, NT5C2, VEGFC, TEK, FLT4, SH2D1A, FGF10, PRSS1, WNK3, MBD3, MBD1, ACE, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, DBH, NHP2, NOP10, GNAS, NR3C2, WNT1, CREB3L1, SMAD2, NOD2, KITLG, FANCA, FANCG, FANCF, FANCE, CYP2C19, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, STK3, SLC6A4, BDNF, VEGFA, ERCC4, THPO, USB1, NEK8, GLIS2, PIK3CA, MYCN, IL11RA, CSF1R, HMGCR, DRD2, SLC6A3, ACVR2B, APOA1, PCSK9, APOB, POLD1, GREM1, ABCG1, ABCA1, AKT2, PAX4, BLK, GLIS3, GATA6, GGCX, GNAQ, TBXAS1, HOXA11, GFI1B, RARB, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, CD40LG, IL7R, ZAP70, ABRAXAS1, POLE, AXIN2, GNA11, INSR, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ELANE, XIAP, FASLG, ITK, G6PC3, GFI1, RAC2, STAT5B, PTPRC, BCR, PIK3CD, NFKBIA, FADD, AIP, CIITA, IL12RB1, STK4, NFKB2, ABCC2, CTLA4, IL10RA, VKORC1, PIK3R1, ICOS, IL10RB, PRKDC, TYK2, NOTCH2, EPOR, TRAF3, POT1, CARD11, SAMD9, PRMT7, NTRK2, WNT5A, NFIA, IL2RA, NKX2-2, MNX1, ZBTB20, ZNF423, CCND2, ESCO2, HOXA13, DHH, DNMT3B, ROR2, WNT4, WNT7A, MAP3K1, IRF6, ICK, NEK1, FSHR, MAMLD1, FGF17, CDK5, SRC, RUNX1T1, FLI1, CENPE, CDK6, ZMYND11, SETD5, CLIP1, CTCF, CRBN, ERF, TCF12, CDC6, PLK4, WRN, PLAGL1, ASXL3, PAX8, CYP2R1, CDH7, DICER1, PDGFRB, PDGFB, KMT2B, CAMTA1, ERCC5, FGF12, MAPK10, XPA, PRDM8, RAD51, BUB1B, GALNT12, NSD2, HOXD13, NKX3-2, ALOX12B, CYLD, CTNNA3, FLG, NLRP1, FLT1, KDR, WNT10A, ZNF384, TNFAIP3, NCSTN, LYN, PSENEN, CARD8, HTR1A, PLCG2, GATA5, KDSR, B2M, ASCL1, GDNF, CUL3, WNK4, LIFR, SLCO1B1, SLCO1B3, VAV1, BLNK, CD79A, CD79B, CYP2C9, NGF, HOXD10, HLA-B, KEL, DHFR, HOXB13, DDX3X, KAT6A, GRB10, HOXA3, CDK19, MAP3K3, RBPJ, XPC, HR, FGF9, TMC6, CYP1A2, TMC8, TWIST2, NR3C1, IGF1, CCND1, SLC26A3, BCL2, HDAC4, TBX3, CDK12, PRPF40B, ARID5B, CEBPE, MTAP, DDB2, DUSP22, ABL2, NFKB1, IL21R, SMAD6, MALT1, FBXW11, MLH3, ETV5, IGF1R, WNT10B, MDM2, DDR2, RNF213, CTNNA2, PALLD, EGF, SOX17, MAFB, AURKC, PML, MSH3, DEK, TRAF3IP2, IL17RA, ROBO2, PICALM, WNT3, ERBB2, CBFB, PAX9, ERCC1, RARA, TCF3, PBX1, ZBTB16, TAL1, AFF3, CYP3A4, NUP214, ADRB2, MN1, NAT2, MLLT3, EPHA2, MLLT1, CDKN2B, PTPRF, FGF20, PTCH2, YWHAE, SMO, LRP6, BCL6, MYC, BIRC3, RPN1, MECOM, CKS1B, CDKN2C, IGF2R, IHH, HOXC13, OSMR, DCC, RNF43, DVL1, TBX18, CYP2A6, CYP4F2, RXRA, GPC5, TNK2, FAT1, NUP93, PRRX1, MAP3K8, MAD2L2, CD70, CHD1L, PRDM12, NONO, NRTN, PRDM13, AXL, KDM1A, SMARCD2, BCL11A, PRLR, CBX2, BRDT, CHD4, TET1, MAPK8, CIC, MAP3K7, TRIO, ASH1L, KMT5B, KAT2B, HDAC6, PPP2R1A, JMJD1C, ERBB4, NKX2-6, TBX22, EED, DVL3, CTNND1, TRAF3IP1, KDM6B, CNKSR1, KDM5A, SETD1A, PARP1, NRIP1, EIF1AX, RICTOR, RAC1, PRKD1, MXD1, DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1, CYP3A5, BCL10, KLF6, ADAM17, PHIP, CYP2B6, CDK11A, YAP1, XBP1, TLR5, LCK, IKBKB, ARNT2, INHBA, MLF1, CRLF2, ABI1, EGR1, PTPRT, MYBL2, SLC19A1, ADRB1, AXIN1, UBR5, ELP3, EWSR1, TAF15, PRKAR1B, DRD1, FGF16, SP110, RHOH, PAX1, CHD1, RBMXL2, PRDM9, ESR2, SMAD1, PERP, PPARA, TRIB1, EPHB4, SOX1, SEM1, PAX7, IL17RC, MAP3K14, DOCK2, SPRY2, CRK, GAB2, MAPK1, PIK3CB, CRKL, PIK3CG, TRAF6, FOXA2, FOXA1, FOLH1, RBM15, TBL1X, HTR2A, HSD3B1, BAX, PAK5, ABCG2, CHUK, CD44, CSNK1D, CREB1, FKBP5, GLCCI1, IL23R, IL4R, IRS2, HMGA1, IRF4, IRS1, HMGA2, PGR, IRF5, IL6R, MIPOL1, SMAD7, TLR2, TLR1, DIAPH2, EPHB2, ZNF750, ALOX5, MAD1L1, PRKACA, NR4A2, POU6F2, PPM1D, TCF7L2, SSTR5, RAD54L, RAD54B, PTGIS, GRB7, GRM3, GRK5, GRM8, GSK3B, GRK4, GPS2, GRB2, MYOD1, CBFA2T2, CBX8, NAB2, MYBL1, CDC20, NEK10, NFKBIE, CCNE2, NEK3, CDC25A, NOTCH2NLA, CDC25B, CDH2, NPR1, NCK2, NOTCH4, NFKBID, NCOA3, CDK9, CDK17, CDC25C, CDX2, CD80, CBX5, NFATC4, CD28, CES2, CDK14, CBX6, CCNB3, CCNL1, CDK2, CDK7, NEK5, CDH5, CEBPZ, CDH11, CDK20, CBX4, MYB, NKX2-3, NCK1, CDKN3, NQO1, NFATC1, CECR2, CDK3, CD22, CD1D, NKX3-1, NFIB, NEK7, NEK6, CDH20, CDKN1A, CDK10, CCND3, NEK4, CDK8, CDC42, NAB1, CDK1, NFATC3, CD276, MTDH, CDH10, CD86, NCOA1, CDK18, NEK11, NPPB, CDK15, CEBPG, CBX1, NCOR1, CD274, NCOA2, NFKBIZ, FLT3LG, FUBP1, GAB1, FRK, FOXO3, FRS3, FOS, FYN, FOSL2, FZR1, GABPA, FRS2, FOXP4, FOXO4, FOXN3, FOXL1, FOXA3, FOXM1, FGF2, ETS1, ETV2, FGF5, FGF18, TENT5C, FAT2, EXTL1, FEN1, FHIT, FER, FES, ETV3, ERG, ESRRA, FGF1, FGF7, EZH1, ETV7, ETS2, FBXO11, EREG, ESCO1, ESPL1, FBXO8, FGF6, ETV3L, FGR, FEV, FAT3, EPHA7, PHF1, ELF3, ELF2, DVL2, E2F3, ELF4, ECT2L, DNMT3L, PDS5B, EPHB3, EPGN, DMXL1, EPHA4, EPHA8, EHMT2, PHF2, EPHA5, EHF, EPHB6, PEG3, DYRK2, ELK3, ELF1, EPHA1, DOT1L, EBF1, E2F7, EPHA3, E2F6, ELF5, ELK4, EPHB1, PDCD1LG2, PDGFD, DCUN1D2, CYP2C8, DAXX, DDIT3, PBRM1, PDCD1, DIRAS3, DDX5, PBX2, PAXIP1, CYP2J2, PCBP1, DIS3, PAK6, PAK4, PARP2, PDGFC, DDR1, PATZ1, DDX6, DCUN1D1, PARP4, PAK1, CRTC2, CTCFL, CREB3L4, CREM, CSK, CTSS, COPS3, CSNK1E, CRTC3, CRTC1, CTSL, CSF1, CNTFR, CHD6, NUMB, NUP98, CNOT3, CARD10, NRG3, CHD3, CHIC2, CARD6, MSH4, CADM2, CHD9, NUMBL, CHEK1, NUTM2G, CMPK1, MST1, ODC1, MST1R, CHD5, CAPRIN2, NUTM1, NUTM2F, NR4A1, MAP2K6, MAU2, MAP4K1, MAP3K4, MAP3K15, BRPF1, MAD2L1, BTG2, BRPF3, BRD1, MAP3K5, MRTFB, MED29, MAPK9, BCL7A, MAP4K4, MLST8, BMI1, MAPK4, MAP4, BID, BRD9, BIRC5, MAML2, EMSY, BRD8, MED12L, BRD7, BRWD1, BCLAF1, MAP3K12, MAPK15, MAP3K2, MOS, MAML3, MAP3K19, MCL1, BTC, MAPK7, BIRC2, MRTFA, MOB1A, MAP2K7, BTRC, BRD3, MAP4K5, BCL9, MAP4K3, MAGED1, MAP2K4, MAP3K9, MATK, MAML1, MLLT10, MDM4, MAST2, MAP3K13, BUB1, BPTF, MAP4K2, MAPK6, MAST1, MAP2K3, MINK1, MAP2K5, MLLT11, MOB1B, MGA, BIRC8, MPG, BCL2A1, BABAM1, ARHGAP26, LGR4, ARFRP1, LATS2, ATAD2B, ASH2L, LDB1, ASCL4, ASCL3, BCAR3, LATS1, ATF1, LMO1, AURKB, BCL2L2, ATAD2, BACH1, ARPC1A, LMTK3, ARHGAP35, ASXL2, LMTK2, LMO7, BACH2, BAZ2B, BCL2L11, BAZ2A, ARNT, LSM1, LPP, APH1A, LGR5, LGR6, LEF1, BAZ1A, LRP1B, APEX1, ASPSCR1, LTK, BAG4, BAZ1B, ARPC1B, JARID2, JMJD4, IL20RB, ITPKB, KDM4A, HNRNPA3, HSP90AA1, HSP90AB1, IKZF3, IL22RA1, IL22RA2, ID2, IFNLR1, JMJD6, IQGAP1, IL3, KMT2E, KLF12, KDM3A, IL17RB, INPP4B, IQGAP2, ING1, IL18R1, IKBKE, JAZF1, IL6ST, KDM4B, KDM5B, HOXB3, IL20RA, HOXA9, ING4, JMJD8, MAP3K21, KDM8, IL1R1, JMJD7, HSPBAP1, IRS4, KMT5A, INTS12, HOXC10, KAT7, KDM1B, HOXA10, IRAK1, KDM4C, KLF5, JUN, KAT2A, JAK1, IL12RB2, KDM4D, KDM2B, ID3, KDM3B, KAT8, HOXD4, IL1RAP, KDM7A, IL5RA, IKBIP, KDM2A, IQGAP3, IL1R2, JUNB, ID1, IKZF2, HOXD3, JADE1, AJUBA, IL18RAP, HDAC7, HCK, HDAC11, HIF1A, HDAC2, HIST1H4E, HDAC10, HIST1H1E, GTPBP4, HEY1, HDAC9, HDAC3, HDGF, HBEGF, HDAC1, HIF1AN, HIST1H3B, HEY2, HLTF, PHLPP2, PIK3C3, PRDM1, PIM2, POU5F1, PLK1, PRMT1, PRDM2, PMAIP1, PIM1, POU5F2, PLK3, POU2AF1, PIK3C2A, POU5F1B, PRMT6, PPARD, PPFIA1, PRDM6, PIK3R3, PRSS3, PLAGL2, PRDM7, PRDM11, PPP1R1C, PREX2, POU6F1, PLK2, PRDM14, PRKCI, PNRC1, PIK3C2B, PRMT3, PRCC, PRMT8, PRDM4, PIK3R4, PLCG1, PLAG1, PRDM10, PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1, UHRF2, TYRO3, TRAF3IP3, TRIB3, TNK1, TXK, UBE2D2, TRAF7, TNFRSF17, VAV2, VHLL, TLX2, WAPL, TRAF2, TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH, WNT6, YWHAB, WISP1, ZNF607, TLR10, WNT16, WWTR1, WNT7B, TGFA, WNT8B, WNT5B, ZMYND8, WNT2, TLR8, TLK2, ZC3H7B, ZNF471, ZNF668, WNT2B, NSD3, TLR7, WNT11, ELOC, TBX2, SSX3, SPIC, SRGAP3, STAT4, KMT5C, SMURF2, SULT1A1, SP100, SOX8, SS18, SSX1, TFEC, SPOP, TCF7, SP140, SPRED2, STAT5A, TERF1, SPI1, SP140L, TEAD2, TENM2, SMYD4, TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6, SSTR1, SMAD5, SUV39H1, STAT6, SLC47A2, SSTR3, SMC2, SLC47A1, TAOK3, RSPO2, SKOR1, RIPK3, RYK, SETD9, SETD3, RPA1, RPS6KB2, SLC15A2, REL, SETDB1, ROCK1, SETMAR, REC8, RHOB, RHEB, RSPO3, SAV1, SKP2, SLC22A1, ROCK2, SH3GL1, SLC22A6, SETD4, SHC1, SHC4, SLC22A2, RIPK1, RELA, SF3A1, RNF40, SF1, SGO1, SLC22A3, SETD7, RHOT1, SFRP1, SGO2, SETDB2, RIPK2, RUVBL1, SGK1, SKIL, RPS6KB1, RUNX3, SHB, SETD1B, RAB25, PTK6, PTPRB, PVT1, PRSS8, PTK7, RAD52, RBM14, PTPRJ, RAD51B, PTPRR, PTGS1, PTTG1, PTPRG, PSIP1, RAD51AP1, PTGS2, PTK2, PTK2B, PTPRM, PTPRK, PTPN21, PTPN2, PSPN, RABEP1, PTPRD, PTPN6, ADGRL2, ADGRB3, ADAMTS20, ACVR1B, ACSL6, ACVR2A, AATK, ABCC1, AFF1, AHR, ADGRL3, ADGRA2, BTG1, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, SSX2, NUTM2A, NUTM2B, HLA-A, BCL11B, CDK13, KLF4, H3F3A, BCL2L1, RHOA, HES1, FGF19, NCOR2, SUZ12, SMARCA1, FGF4, MAP3K6, TOP1, AURKA, MEF2B, ZNF703, GID4, MAPK3, TRIM33, WIF1, SFPQ, LYL1, MDS2, RAP1GDS1, LMO2, HOXC11, TAL2, MLLT6, HLF, OLIG2, CBFA2T3, CCDC6, TLX1, HOXD11, MTCP1, NKX2-8, ICOSLG, USP9Y, CES1, PDPK1, POU2F2, YEATS4, TBC1D12, FOXQ1, ZNRF3, PPP6C, RELB, CDX1, E2F5, TRIM24, SMYD2, HDGFL3, MAPK12, EPHA6, SMARCD1, VEGFD, ASCL5, GFRA4, PRRX2, KDM5D, PBX3, BMX, MAPK11, VGLL2, FGF21, CKS2, JUND, CDK11B, TRIM28, CHIC1, TEF, WNT9A, UTY, CUL4A, SMARCC1, SOX21, NRG2, GLIS1, CASC11, WASL, KHSRP, PAK2, MAP3K11, PDGFA, MAP3K10, PIM3, SETD6, MAPK14, ASCL2, HES2, NKX2-4, BTG3, DACH2, PDS5A, CBX3, NRG4, MAPK13, IL3RA, ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1, ID4, FGF22, ZNF444, FKBP9, HDAC5, IL2RB, TCL1B, IL9R, NFIC, CEBPD, HES4, IL13RA1, SHC3, CBX7, BUB3, INSRR, WNK2, ARTN, SSTR4, PHLPP1, GUCY1A2, FOSB, SMURF1, BBC3, SRMS, PGF, NFKBIB, FGF13, KAT5, PBX4, PRKACB, AREG, CEBPB, E2F1, PRDM15
Specificity
1 %
Genes
50 %
|
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
RUNX1, TP53, IDH2, BRAF, PTPN11, ALK, CEBPA, MPL, NF1, NOTCH1, DNMT3A, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, PDGFRA , (...)
View the complete list with 3 more genes
RUNX1, TP53, IDH2, BRAF, PTPN11, ALK, CEBPA, MPL, NF1, NOTCH1, DNMT3A, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, PDGFRA, MYD88, IDH1, MYC
Specificity
5 %
Genes
50 %
|
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BRCA1, BRCA2, VHL, APC, PTEN, TP53, WT1, RB1, RET, IDH2, BRAF, HRAS, KRAS, NRAS, FGFR2, MAP2K2, ATM, PTCH1, STK11, CDKN2A , (...)
View the complete list with 12 more genes
BRCA1, BRCA2, VHL, APC, PTEN, TP53, WT1, RB1, RET, IDH2, BRAF, HRAS, KRAS, NRAS, FGFR2, MAP2K2, ATM, PTCH1, STK11, CDKN2A, MET, CTNNB1, MTOR, KIT, PIK3CA, EGFR, PDGFRA, IDH1, AKT1, ERBB2, SMO, ESR1
Specificity
4 %
Genes
50 %
|