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Panel Name, Specifity and genes Tested/covered |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN
Specificity
1 %
Genes
100 %
|
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).
By PreventionGenetics PreventionGenetics (United States).
SCO1, SCO2, SURF1, LRPPRC, COA6, APOPT1, COX15, COX6B1, TACO1, COA3, COX20, COX14, FASTKD2, COA5, PET100
Specificity
7 %
Genes
100 %
|
Mitochondrial Complex IV Deficiency via COA5 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
COA5
Specificity
100 %
Genes
100 %
|
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)
View the complete list with 154 more genes
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1
Specificity
1 %
Genes
100 %
|
Hereditary kidney disorders - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)
View the complete list with 386 more genes
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET
Specificity
1 %
Genes
100 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company (Germany).
BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)
View the complete list with 1177 more genes
BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, AIMP1, SDCCAG8, SDHA, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SIX6, SKI, DST, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC22A5, BRAF, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC35A1, SLC35A2, SLC3A1, SLC4A4, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNCB, SNX3, SOD1, SORL1, SOS1, SOX10, SOX3, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, TAF1, TAF2, TARDBP, TAZ, TBCE, TBX1, TWNK, TCAP, TCF4, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TH, ACO2, TIMM8A, NKX2-1, TK2, TLR3, TLR5, TSPAN7, TNF, ACOX1, TNFSF4, TNNT1, MED12, GIGYF2, TPM2, TPM3, TRAF3, TREX1, TRPS1, TSC1, TSC2, TSFM, CEP41, TSHB, MYOT, TTN, TTPA, TTR, TUBA4A, TUBA8, TWIST1, TYROBP, UBA1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UQCRB, USP8, USP9X, KDM6A, VAMP1, VAPB, VAX1, VCP, VDAC1, VEGFA, VHL, VLDLR, BEST1, VRK1, WFS1, WNT3, WNT5A, WNT7A, WWOX, XBP1, XK, YARS, YWHAE, ZIC2, ZIC3, ACTA1, ZBTB16, ACTA2, ZBTB18, ZNF711, ZNF81, CNBP, ACTB, ARL6, FTSJ1, HDAC8, LPIN1, NSDHL, UNC93B1, VPS35, ATP8A2, ERLIN2, FBXO7, AAAS, GFM1, PRX, CA8, WNT10A, CNTNAP2, FOXP2, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1H, CACNA1S, ANO3, SLC5A7, CACNB4, CACNG2, HDAC4, ARHGEF10, CCDC78, SLC25A20, NSD1, RAB18, CERS1, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, HTRA2, IRX5, ACTG1, SLC25A19, ELOVL4, TMEM237, LPIN2, NPC2, WNK1, ARHGEF9, PINK1, AMN, CAPN3, COG5, ZEB2, DNAJB6, ALX1, CASK, CASR, CAV3, CBL, SHOC2, MBTPS2, DNAJC6, DIAPH3, TSEN34, PUS1, VANGL1, CHCHD10, SETBP1, HPS3, ALG9, LDB3, LRPPRC, KRIT1, ADNP, ZNF335, BSCL2, HPS4, ARFGEF2, ABHD12, PANK2, NDUFAF5, NOP56, PLCB1, SAMHD1, GDAP1, TRIM2, TP63, APTX, SELENON, PCNT, LIMS2, CCT5, DNAJC5, TGM6, YAP1, SLC19A3, PNPLA6, NFU1, UPB1, PARK7, TRIM32, NLRP3, EFHC1, RAB39B, BSND, CD36, KIF1B, SCARB2, CD320, BCAP31, MCEE, CIZ1, ZNF423, COQ8A, LITAF, FIG4, MFN2, CD59, CD96, BCKDK, ERLIN1, PRICKLE1, HPS5, EXOSC8, NIPA1, RAB3GAP1, MLC1, SYNE2, SYNE1, TNPO3, CDON, OPTN, RAB3GAP2, TIRAP, CHSY1, BICD2, CPA6, CENPJ, ZFR, RRM2B, CDK11A, WAC, DTNBP1, BRWD3, TPK1, AASS, ADGRV1, GJC2, ACVRL1, CDH15, KAT6B, NDE1, PORCN, ACY1, PDSS1, TREM2, CD207, EXOSC3, REEP2, TRPM7, TRPM6, FKRP, ARID1B, ARX, TRPV4, TUBGCP6, PHF6, TMCO1, RBFOX1, ALG1, ATP6AP2, TMLHE, ASXL1, TICAM1, HPSE2, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, LRRK2, COG4, COG6, COG7, COG8, IFT27, CDK5RAP2, NAA10, GRIP1, CNTNAP4, CFL2, RIN2, BBS7, ADAM10, POGZ, ATPAF2, CAMTA1, HPS6, NDUFAF1, KCNT1, MMAA, TDP1, MAGI2, GBA2, AANAT, ASPM, VPS13A, CHAT, FGD4, POMGNT1, TTBK2, CHD2, DOCK8, MTO1, KANK1, MMAB, KIF21A, ALG12, KCNK18, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, DDHD1, POMT2, CISH, SLC25A22, TECPR2, CCDC88C, AARS, TTC8, FLVCR2, GPR143, CHD8, CLCN1, SLC35C1, CLCN2, B3GLCT, CLCNKA, CLCNKB, NUBPL, PRICKLE2, ZDHHC15, VIPAS39, NDUFA11, SPG21, SUMF1, UPF3B, MBD5, CYP2U1, CHD7, CLIC2, SLC9A9, PHF8, TPP1, GNB4, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB3, TUBB4A, CLN8, THAP1, BCOR, BLOC1S3, AARS2, NDUFAF4, RNF135, FA2H, ICK, ELOVL5, ANKRD11, SBF2, ABHD5, RARS2, INPP5E, ACAD9, AHI1, NHLRC1, RNASET2, BRAT1, CCM2, CNTN1, LHX4, VPS13B, AGK, COL12A1, COL18A1, KCTD7, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, AP5Z1, COLQ, ADAR, COX10, COX15, COX6A1, COX6B1, GMPPB, NLRP12, CP, PEX26, ABAT, LMBRD1, PDSS2, ALG3, SLC13A5, SYT14, ALG6, ALG2, ALG8, KIRREL3, MYH14, PIGO, ETHE1, CPT2, CR1, FREM1, CRADD, DOLK, CREBBP, DHTKD1, ADCY5, GNE, MED23, PTF1A, MED17, INF2, CRYAB, NDUFA12, KNL1, RNASEH2C, B9D1, CISD2, TACO1, CSF1R, CSF2RB, BOLA3, PLEKHG4, WDR62, TCTN3, MMACHC, CHMP2B, FAM126A, SIL1, EHMT1, EXOC8, FTO, SMC3, FLVCR1, CST3, CSTB, MOGS, VPS37A, CTDP1, TMEM216, MARS2, LRSAM1, CTNNB1, MMADHC, COQ2, CTSD, COQ9, SLC30A10, RNF170, TMEM126A, RAB40AL, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, RNASEH2B, MAMLD1, ADK, PGAP1, NHEJ1, TRAPPC11, TCTN2, DCAF17, REEP1, CPLANE1, SRD5A3, CEP63, POMGNT2, CYP11B2, RETREG1, NSUN2, TTC19, PIGV, CYP27A1, TMEM70, TCTN1, CTC1, MTMR14, CSPP1, TTI2, POMK, PIEZO2, BBS10, HEPACAM, CYP7B1, HGSNAT, ZFYVE27, DOK7, WDR81, BBS12, DAG1, NAT8L, C12orf65, FOXRED1, TMEM138, DBT, RBFOX3, DCTN1, DCX, ESCO2, ZCCHC12, DDOST, ACSF3, ANO5, TSEN54, DES, WDPCP, NDUFAF2, BBIP1, CCDC28B, C9orf72, TMEM67, TSEN2, MFSD8, DGUOK, DHCR7, NDUFAF6, B9D2, DHH, FBXO38, MED25, NIPBL, MAGT1, DKC1, WDR45, DLD, WASHC5, ZNF592, RUBCN, DLG3, CEP290, SZT2, IQSEC2, IFT140, CEP135, SMCHD1, ADSL, PLEKHG5, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, SHROOM4, ARHGAP31, CC2D2A, SOBP, DMD, CEP152, ASXL3, EARS2, SH3TC2, NEXMIF, ROGDI, C12orf57, TBL1XR1, DNAH9, UQCRQ, DYNC1H1, DYNC2H1, MTFMT, DNM1L, DNM2, DNMT1, NDUFAF3, COASY, DPAGT1, BBS9, PIK3R5, DPM1, DPM3, POLR3A, HSPB8, STRADA, CRBN, ATP13A2, RFT1, PREPL, DRD2, CC2D1A, DRD3, TUSC3, PNPO, POLR3B, DSC3, KIF7, PRRT2, DNAJC19, SNIP1, SEPSECS, SRPX2, TMEM165, PNPLA2, TUBB2B, TRAPPC9, EFTUD2, ALG13, HUWE1, DYRK1A, WDR48, LINS1, DYSF, TOR1A, EBP, TYMP, AFG3L2, EDN3, AGA, EDNRB, AGL, EEF2, EGR2, ALG11, ARSI, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, AGRN, EIF4G1, ELK1, EMD, EMX2, ENO3, ENTPD1, EOMES, EP300, EPB41L1, COA5, SDHAF1, RNU4ATAC, AGXT, EPM2A, AHCY, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ETFA, ETFB, ETFDH, F2, F5, ACSL4, FADD, FANCB, FBLN5, FCGR2B, FKTN, FGA, FGD1, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, KBTBD13, TMEM231, ISPD, FLNA, FLNC, FLRT1, FMR1, AFF2, FOLR1, FOXG1, FOXP1, AKT1, AKT3, MTOR, ALAD, FXN, FRG1, FTL, FUS, ALDH3A2, ACKR1, FZD9, ALDH4A1, GAA, GABRA1, ALDH5A1, GABRB3, GABRD, GABRG2, GAD1, GALC, B4GALNT1, GALNS, GAMT, GAN, ALDOA, GARS, ALDOB, GATM, GBA, GBE1, GCDH, GCH1, GCSH, GDI1, GDNF, GFAP, GFER, GFPT1, ALMS1, GJB1, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, ALOX5AP, GM2A, GNAL, GNPAT, GNS, ALS2, GOSR2, GP1BA, SETX, GPC3, ALX3, ALX4, AMACR, ADGRG1, TECR, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSN, AMPD1, AMPD2, GUSB, GYG1, GYS1, AMT, ABCB7, HSD17B10, HADHA, HADHB, ANG, HCCS, HTT, HERC2, HESX1, HEXA, HEXB, HFE, HINT1, HK1, ANK3, HMGCS2, HNRNPDL, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HRAS, HSD17B4, DNAJB2, HSPB1, HSPB3, HSPD1, HYAL1, NOD2, ICAM1, IDS, IDUA, IFRD1, IGBP1, IGF1, IGHMBP2, AP1S1, AP1S2, AP3B1, ABCC6, AP4B1, AP4E1, AP4M1, AP4S1, ABCC8, ELP1, IKBKG, IL11RA, IL1RAPL1, IL1RN, INS, ABCD1, FOXP3, APOE, ITM2B, ITPR1, JRK, APP, KARS, KCNA1, KCNC3, KCND3, KCNE5, KCNJ1, KCNJ10, KCNJ11, KCNK9, KCNMA1, KCNQ2, KCNQ3, KIF1C, KIF5A, KLF8, KIF11, KRAS, AR, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LBR, LDHA, COG1, LGI1, ARG1, LMNA, LMNB1, LRP2, LYZ, LZTFL1, MAG, ABCD4, MAGEL2, MAN1B1, MAOA, ARHGEF6, MAPK10, MAPT, MARS, MASP1, MATR3, MCPH1, MECP2, MEF2C, A2M, MET, MGAT2, MID1, ATXN3, MKKS, MKS1, ARSA, KMT2D, ARSB, ARSE, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, ASAH1, ASCL1, MSX1, MSX2, MTHFR, MTM1, MTMR2, ASL, MTR, MTRR, MUSK, MMUT, ASNS, MVK, MYCN, ASPA, MYF6, MYH7, MYH9, ASS1, MYO5A, NAGA, NAGLU, NBN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEDD4L, NEFH, NEFL, NEU1, NF1, NFIX, ATCAY, NGF, NHS, NOG, NOL3, NOS2, NOTCH2, NOTCH3, NPC1, NPHP1, NPHP3, ATIC, ATM, NRAS, NRG1, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, NTRK2, NXF5, FRMD7, OCLN, OCRL, ATP2A1, ATP2A2, OPA1, OPA3, OPHN1, SIGMAR1, ATP2B3, ATP2B4, ATP5F1E, ACACA, ORC1, OTC, BLOC1S6, PAFAH1B1, PAH, PAK3, PRKN, PAX6, PC, PCBD1, ATP7A, ATP7B, PCK2, CHMP1A, PDCD10, AIFM1, ALDH7A1, PDE6D, PDE8B, ACADL, PDHA1, PDK3, ATR, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, ATRX, PEX7, PFKM, KIF1A, PFN1, PGAM2, PGK1, ACADM, PGM1, PHKA1, PHYH, SERPINI1, PIGA, PIGL, PIGN, PIK3CA, PIK3R2, ACADS, PLA2G6, PLEC, PLP1, ACADSB, PMM2, PMP22, PRRX1, PHOX2B, PNKD, PNKP, POLG, POLG2, ACADVL, POMT1, B4GALT1, ACAT1, PPT1, PQBP1, PRKAG2, BAG3, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPS1, HTRA1, PRSS12, PSAP, SLC33A1, PSEN1, PSEN2, TAS2R38, PTCH1, PTEN, PTPN11, BBS1, BBS2, PTS, BBS4, BBS5, NECTIN1, PEX19, PEX2, PEX5, ALDH18A1, PYGM, QARS, QDPR, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, BCKDHA, RAPSN, BCKDHB, RBBP8, RBM10, RBM8A, PRPH2, RELN, RET
Specificity
1 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company (Germany).
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)
View the complete list with 487 more genes
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET
Specificity
1 %
Genes
100 %
|
New Born testing (CentoICU).
By Centogene AG - the Rare Disease Company (Germany).
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)
View the complete list with 487 more genes
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET
Specificity
1 %
Genes
100 %
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