—
Based on the latest data available Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome; Wagr have a estimated birth prevalence of 0.2 per 100k
in Europe.
| Panel Name, Specifity and genes Tested/covered |
Autsim Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...)
View the complete list with 87 more genes
NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SMARCB1, MAGEL2, SNRPN, RPL10, UBE2A, AFF2, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
34 %
|
Central Hypoventilation Syndrome Panel (6 Genes).
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
34 %
|
PulmoGene Panel (64 Genes).
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)
View the complete list with 44 more genes
GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, SMAD9, RSPH1, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, NF1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, HRAS, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, RPGR, DTNBP1, ELN, RET, FBLN5
Specificity
2 %
Genes
34 %
|
Autism/Intellectual Disability/Multiple Anomalies.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.
ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...)
View the complete list with 69 more genes
ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, KMT2D, PAFAH1B1, RELN, PQBP1, DCX, MBD5, FOLR1, GABRB3, ASPM, L1CAM, FGFR1, NF1, SCN1A, MET, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, HDAC8, FGFR2, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PCDH19, NRAS, MEF2C, MAP2K1, KRAS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, FGFR3, SLC9A6, TUBA1A, MECP2, RAF1, MKKS, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
2 %
Genes
34 %
|
Central hypoventilation syndrome (sequence analysis of BDNF gene).
By CGC Genetics in Portugal.
BDNF
Specificity
100 %
Genes
34 %
|
Congenital Central Hypoventilation Syndrome (CCHS) via BDNF Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
BDNF
Specificity
100 %
Genes
34 %
|
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
BMP2, ASCL1, BDNF, EDN3, PHOX2B, PHOX2A, RET
Specificity
15 %
Genes
34 %
|
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13 , (...)
View the complete list with 90 more genes
DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13, SUMF2, SYNRG, TET1, UBA7, USP44, ZBTB11, BCL11A, MAGEA11, AFF3, DDX3X, LAMC1, SNX14, HIVEP2, CC2D1A, CRBN, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, MED23, GATAD2B, FMN2, WASHC4, METTL23, NDST1, SETD5, MPDZ, VPS35, BDNF, ADGRG2, MED25, CLCN4, IL1RAPL1, NAA10, SLC16A2, BRWD3, ZDHHC9, RPS6KA3, FTSJ1, GDI1, UPF3B, UBE2A, TSPAN7, DLG3, ZNF711, AFF2, HUWE1, NLGN4X, CTNNB1, ARID1B, TBR1, AP1S2, KIRREL3, ADNP, PTCHD1, SHANK3, SETBP1, RAB39B, CUL4B, OPHN1, KDM5C, PAK3, ARHGEF9, GRIA3, FGD1, IQSEC2, ATRX, CNTNAP2, TCF4, GRIN1, SCN8A, PQBP1, DEAF1, TBC1D24, MBD5, CHD2, GRIN2B, SCN2A, SMC1A, SLC2A1, MEF2C, FOXG1, ARX, SLC6A8, SLC9A6, ACSL4, TUSC3, STXBP1, MECP2
Specificity
1 %
Genes
34 %
|
Central hypoventilation syndrome, congenital.
By Centogene AG - the Rare Disease Company in Germany.
BDNF
Specificity
100 %
Genes
34 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)
View the complete list with 1185 more genes
FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2
Specificity
1 %
Genes
67 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)
View the complete list with 494 more genes
OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2
Specificity
1 %
Genes
67 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)
View the complete list with 494 more genes
FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2
Specificity
1 %
Genes
67 %
|
Comprehensive pulmonary disease panel.
By Centogene AG - the Rare Disease Company in Germany.
GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)
View the complete list with 46 more genes
GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, SMAD9, RSPH1, DOCK8, PARN, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, SCNN1B, SCNN1G, SCNN1A, RTEL1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, DTNBP1, ELN, RET, FBLN5
Specificity
2 %
Genes
34 %
|
Rett, Syndrome.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
HERC2, BDNF, FOXP1, FOXP2, NTNG1, SHANK3, TCF4, KCNQ2, SCN2A, PLP1, MEF2C, FOXG1, CDKL5, ARX, ALDH5A1, STXBP1, MECP2, UBE3A
Specificity
6 %
Genes
34 %
|
Congenital Central Hypoventilation Syndrome: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GDNF, ASCL1, BDNF, HOXA1, EDN3, PHOX2B, RET
Specificity
15 %
Genes
34 %
|
Pulmonary Disease: Comprehensive Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1 , (...)
View the complete list with 33 more genes
GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, EFEMP2, CSF2RA, SMAD9, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, ELN, RET, FBLN5
Specificity
2 %
Genes
34 %
|
Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GDNF, ASCL1, BDNF, HOXA1, EDN3, PHOX2B, RET
Specificity
15 %
Genes
34 %
|
Autism NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...)
View the complete list with 80 more genes
AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
34 %
|
Hypoventilation Syndrome NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GDNF, ASCL1, BDNF, EDN3, PHOX2B
Specificity
20 %
Genes
34 %
|
Diabetes-Obesity NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
NTRK2, SIM1, EIF2AK3, PTF1A, NEUROG3, GLIS3, RFX6, BDNF, GNAS, SDCCAG8, WDPCP, MAGEL2, FOXP3, HNF4A, PDX1, INS, MC4R, KCNJ11, CEL, ABCC8 , (...)
View the complete list with 24 more genes
NTRK2, SIM1, EIF2AK3, PTF1A, NEUROG3, GLIS3, RFX6, BDNF, GNAS, SDCCAG8, WDPCP, MAGEL2, FOXP3, HNF4A, PDX1, INS, MC4R, KCNJ11, CEL, ABCC8, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GCK, TRIM32, TTC8, CEP290, MKKS, ARL6, WFS1, HNF1B, NEUROD1, HNF1A
Specificity
3 %
Genes
34 %
|
Lung Disorders NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B , (...)
View the complete list with 31 more genes
GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, EFEMP2, SMAD9, TERT, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, CFTR, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, ELN, RET, FBLN5
Specificity
2 %
Genes
34 %
|
Central Hypoventilation Syndrome NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
34 %
|
BDNF.
By Fulgent Genetics Fulgent Genetics in United States.
BDNF
Specificity
100 %
Genes
34 %
|
Hirschsprung Disease Panel.
By Blueprint Genetics in Finland.
CELSR3, NRG1, NRTN, BDNF, MITF, SOX10, EDNRB, PAX3, EDN3, ZEB2, KIF1BP, L1CAM, PHOX2B, RMRP, RET
Specificity
7 %
Genes
34 %
|
BDNF Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
BDNF
Specificity
100 %
Genes
34 %
|
Genecept Assay™.
By Genomind Genomind, Inc in United States.
GRIK1, HTR2C, OPRM1, CYP2B6, CYP3A5, CYP1A2, CYP2C9, ANK3, ADRA2A, DRD2, BDNF, SLC6A4, CYP2D6, CYP2C19, CACNA1C, MC4R, COMT, MTHFR
Specificity
6 %
Genes
34 %
|
HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME).
By Laboratorio de Genetica Clinica SL in Spain.
GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
34 %
|
Ondine Syndrome, Sequencing BDNF Gene.
By Reference Laboratory Genetics in Spain.
BDNF
Specificity
100 %
Genes
34 %
|
Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes.
By Reference Laboratory Genetics in Spain.
GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
34 %
|
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes.
By Reference Laboratory Genetics in Spain.
HERC2, BDNF, FOXP1, FOXP2, NTNG1, SHANK3, TCF4, KCNQ2, SCN2A, PLP1, MEF2C, FOXG1, CDKL5, ARX, ALDH5A1, STXBP1, MECP2, UBE3A
Specificity
6 %
Genes
34 %
|
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.
By Reference Laboratory Genetics in Spain.
BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...)
View the complete list with 57 more genes
BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
2 %
Genes
34 %
|
Tempus xO assay.
By Tempus Labs, Inc. in United States.
SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)
View the complete list with 1693 more genes
SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
100 %
|
Syndromic Hirschsprung Disease: gene sequencing panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...)
View the complete list with 8 more genes
GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
4 %
Genes
34 %
|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)
View the complete list with 617 more genes
GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1
Specificity
1 %
Genes
67 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc in United States.
TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...)
View the complete list with 20 more genes
TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, FOLR1, ASPM, MCPH1, LARGE1, LAMA2, POMT1, POMT2, FKRP, DPYD, POMGNT1, PEX7, FKTN, WDR62, ARX, FGFR3, TUBA1A, SLC25A19, SHH, CPT2, PAX6
Specificity
3 %
Genes
34 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)
View the complete list with 214 more genes
IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A
Specificity
1 %
Genes
34 %
|
Optic Atrophy and Early Glaucoma Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...)
View the complete list with 14 more genes
SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2, OPA3, POLG, CYP1B1, MFRP, PITX2, FOXC1, WFS1, OPA1, OPTN, PITX3, PAX6, C12orf65, BEST1, AUH
Specificity
3 %
Genes
34 %
|
PAX6-Related Disorders - PAX6 Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6-Related Disorders - Del/dup Analysis.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.
PAX6
Specificity
100 %
Genes
34 %
|
Axenfeld-Rieger syndrome.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.
B3GLCT, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6
Specificity
15 %
Genes
34 %
|
Anterior segment defects.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.
KERA, B3GLCT, FOXE3, COL4A1, LAMB2, PORCN, PAX2, CYP1B1, PITX2, FOXC1, PITX3, PAX6, EYA1
Specificity
8 %
Genes
34 %
|
Aniridia.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6 deletion/duplication analysis.
By Genetic Services Laboratory University of Chicago in United States.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6 sequencing.
By Genetic Services Laboratory University of Chicago in United States.
PAX6
Specificity
100 %
Genes
34 %
|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)
View the complete list with 460 more genes
PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1
Specificity
1 %
Genes
34 %
|
PAX6 Gene Sequencing.
By GeneDx in United States.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6 mutation analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia (deletion/duplication analysis of PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia (sequence analysis of PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Peters anomaly (sequence analysis of PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Cataracts (NGS panel for 41 genes).
By CGC Genetics in Portugal.
CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7 , (...)
View the complete list with 21 more genes
CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, CRYBA4, FTL, CTDP1, FOXE3, MAF, SIL1, GALK1, GALT, GJA3, FYCO1, AGK, CRYAB, NHS, WFS1, PITX3, PAX6, EYA1
Specificity
3 %
Genes
34 %
|
Coloboma of optic nerve (sequence analysis of PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).
By CGC Genetics in Portugal.
GATA6, PTF1A, GLIS3, RFX6, IER3IP1, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, PAX6
Specificity
8 %
Genes
34 %
|
Optic nerve hypoplasia (deletion/duplication analysis on PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Coloboma of optic disc (deletions/duplications analysis of PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Septooptic dysplasia (NGS panel for 17 genes).
By CGC Genetics in Portugal.
TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
6 %
Genes
34 %
|
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).
By CGC Genetics in Portugal.
HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1
Specificity
6 %
Genes
34 %
|
Coloboma of optic disc (deletions/duplications analysis of PAX6 gene).
By CGC Genetics in Portugal.
PAX6
Specificity
100 %
Genes
34 %
|
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).
By CGC Genetics in Portugal.
HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1
Specificity
6 %
Genes
34 %
|
Septooptic dysplasia (NGS panel for 17 genes).
By CGC Genetics in Portugal.
TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
6 %
Genes
34 %
|
Wilms' tumor.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
PAX6, WT1
Specificity
100 %
Genes
67 %
|
Irido-corneo-trabecular dysgenesis.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
CYP1B1, PAX6
Specificity
50 %
Genes
34 %
|
11p partial monosomy syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
PAX6, WT1
Specificity
100 %
Genes
67 %
|
Congenital aniridia.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Foveal hypoplasia and presenile cataract syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Cataract with late-onset corneal dystrophy.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ASPH, B3GLCT, SH3PXD2B, FOXE3, COL4A1, CYP1B1, PITX2, FOXC1, PAX6
Specificity
12 %
Genes
34 %
|
Glaucoma Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
COL8A1, OPTC, ATOH7, COL8A2, WDR36, SH3PXD2B, SLC4A4, LTBP2, COL4A1, MYOC, LMX1B, CYP1B1, MFRP, PITX2, FOXC1, OPTN, PAX6
Specificity
6 %
Genes
34 %
|
Aniridia via PAX6 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PAX6
Specificity
100 %
Genes
34 %
|
Congenital Cataracts Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
MIR184, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7 , (...)
View the complete list with 20 more genes
MIR184, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, CRYBA4, CTDP1, FOXE3, MAF, SIL1, SLC33A1, GALK1, GJA3, FYCO1, AGK, CRYAB, NHS, PITX3, PAX6, EYA1
Specificity
3 %
Genes
34 %
|
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
20 %
Genes
34 %
|
Aniridia.
By Institute of Human Genetics Cologne University in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)
View the complete list with 847 more genes
EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
34 %
|
Hereditary kidney disorders - different panels.
By Institute of Human Genetics Cologne University in Germany.
CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)
View the complete list with 391 more genes
CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL
Specificity
1 %
Genes
67 %
|
Cataract.
By MGZ Medical Genetics Center in Germany.
TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA , (...)
View the complete list with 45 more genes
TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, COL4A2, FAM126A, ERCC5, COL18A1, TBC1D20, EPG5, CRYBA4, VSX2, RAB18, FTL, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, GLA, SIX6, CYP27A1, GALK1, GJA3, FYCO1, OPA3, CRYAB, NHS, PITX2, FOXC1, WFS1, ABCB6, PAX6, COL2A1, EYA1
Specificity
2 %
Genes
34 %
|
Peters Anomaly.
By MGZ Medical Genetics Center in Germany.
CYP1B1, PAX6
Specificity
50 %
Genes
34 %
|
Isolated Aniridia.
By MGZ Medical Genetics Center in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6-Related Anophthalmia.
By MGZ Medical Genetics Center in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Foveal Hypoplasia and Presenile Cataract Syndrome.
By MGZ Medical Genetics Center in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Eye Diseases - panels.
By MGZ Medical Genetics Center in Germany.
OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)
View the complete list with 147 more genes
OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, ATOH7, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, ASPH, COL4A2, ADAMTS10, FAM126A, ADAMTSL4, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ERCC5, COL18A1, C12orf57, LRP2, FRAS1, FREM2, GRIP1, TBC1D20, EPG5, COL17A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RARB, RAB18, FTL, GJA1, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, CHST6, LRMDA, SLC24A5, GDF6, ZNF469, PRDM5, ZIC2, TGIF1, TFAP2A, MYH9, SLC4A11, COL11A2, COL11A1, COL9A2, ERCC2, COL9A3, COL9A1, ACTG1, ACTB, VPS13B, TREX1, TUBB2B, SIX3, RAB3GAP1, COL4A1, SIL1, SLC33A1, ADAMTS2, GLA, CHD7, GSN, PAX2, KRT3, COL5A2, COL5A1, FZD4, KIF21A, MYOC, HESX1, SOX2, CYP4V2, SIX6, CYP27A1, GALK1, CBS, BCOR, HCCS, FRMD7, STRA6, GJA3, PHOX2A, TMEM126A, FYCO1, MTPAP, FBN1, OPA3, CRYAB, MFN2, SHH, NHS, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, WFS1, ABCB6, OPA1, GPR143, TYR, TUBB3, TGFBI, ZEB1, PAX6, SLC45A2, VSX1, OCA2, COL3A1, COL2A1, LRP5, EYA1, TYRP1, RAX, FOXL2, C12orf65
Specificity
1 %
Genes
34 %
|
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.
By MGZ Medical Genetics Center in Germany.
MIR184, SLC38A8, ASPH, COL4A2, B3GLCT, LTBP2, FOXE3, COL4A1, MYOC, CYP1B1, PITX2, FOXC1, PAX6, EYA1
Specificity
8 %
Genes
34 %
|
PAX6-Related Anophthalmia.
By Bioscientia GmbH Center for Human Genetics in Germany.
VSX2, SOX2, SIX6, OTX2, PAX6
Specificity
20 %
Genes
34 %
|
Isolated Aniridia.
By Bioscientia GmbH Center for Human Genetics in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Cataract panel.
By Centogene AG - the Rare Disease Company in Germany.
UNC45B, LSS, LEMD2, SIPA1L3, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD , (...)
View the complete list with 25 more genes
UNC45B, LSS, LEMD2, SIPA1L3, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, CRYBA4, VSX2, FTL, CTDP1, FOXE3, MAF, GALK1, BCOR, GJA3, FYCO1, AGK, CRYAB, NHS, FOXC1, WFS1, PITX3, PAX6, EYA1
Specificity
3 %
Genes
34 %
|
Axenfeld-Rieger syndrome type 3.
By Centogene AG - the Rare Disease Company in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia.
By Centogene AG - the Rare Disease Company in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Rieger syndrome.
By Centogene AG - the Rare Disease Company in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
WAGR syndrome.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
PAX6, WT1
Specificity
100 %
Genes
67 %
|
Cataract Panel.
By CeGaT GmbH in Germany.
CRYGA, LSS, SIPA1L3, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA , (...)
View the complete list with 21 more genes
CRYGA, LSS, SIPA1L3, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, CRYBA4, FTL, FOXE3, MAF, SIL1, GALK1, BCOR, GJA3, FYCO1, AGK, CRYAB, NHS, PITX3, PAX6, EYA1
Specificity
3 %
Genes
34 %
|
Ataxia and differential diagnoses Panel.
By CeGaT GmbH in Germany.
RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)
View the complete list with 184 more genes
RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1, ERCC5, SCYL1, RNF216, RNASEH1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, GRID2, LAMA1, SLC52A2, ATCAY, BEAN1, CACNA1G, ATP2B3, ATP8A2, RARS, UBA5, COX20, CA8, CCDC88C, DNAJC3, MARS2, VLDLR, ARL13B, RPGRIP1L, ERCC4, CP, WNT1, GBA2, UCHL1, KIF1C, ERCC6, GMPPB, NKX2-1, NALCN, CLCN2, NEU1, PEX10, PRPS1, DNMT1, POLR1C, ERCC3, ERCC2, GFAP, KCNJ10, PNKP, SNAP25, KCNA2, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, PRRT2, LMNB2, EPM2A, KCNC1, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE1, NHLRC1, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, TRAPPC11, SYNE1, VRK1, SETX, PNPLA6, BSCL2, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, AHI1, CSTB, EIF2B4, EIF2B2, EIF2B3, GJB1, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SLC17A5, SACS, PEX7, PEX2, MTTP, CLN6, MRE11, ATM, ATXN1, NPC2, NPC1, EIF2B1, GBA, ARSA, PDHX, WWOX, TPP1, APTX, PMM2, CYP27A1, FASTKD2, FXN, GCDH, L2HGDH, GALC, DLAT, NAGLU, NDUFS7, PHYH, HEXB, ALDH5A1, HEXA, ABCB7, ALG6, SPG7, COQ2, PDP1, FLVCR1, DNAJC19, TSFM, DARS2, COQ8A, SPR, NUBPL, MTPAP, TTC19, ACO2, PDSS1, PDSS2, COQ9, OPA3, AFG3L2, POLG, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, WFS1, OPA1, AMACR, INPP5E, PAX6, PRKCG, TWNK, AUH, ATP7B, BTD, UQCRQ, ABHD12, AARS2, FMR1
Specificity
1 %
Genes
34 %
|
Single gene testing PAX6.
By CeGaT GmbH in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
PAX6.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia.
By Asper Biogene Asper Biogene LLC in Estonia.
PAX6
Specificity
100 %
Genes
34 %
|
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.
By Asper Biogene Asper Biogene LLC in Estonia.
SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...)
View the complete list with 15 more genes
SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, CYP1B1, OTX2, MFRP, PITX2, FOXC1, ABCB6, PAX6, VSX1, EYA1, RAX
Specificity
3 %
Genes
34 %
|
Cataract.
By Asper Biogene Asper Biogene LLC in Estonia.
UNC45B, LSS, SIPA1L3, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA , (...)
View the complete list with 24 more genes
UNC45B, LSS, SIPA1L3, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, CRYBA4, VSX2, FTL, GJA1, CTDP1, MAF, SIL1, SIX6, GALK1, BCOR, GJA3, FYCO1, AGK, CRYAB, NHS, PITX3, PAX6, EYA1
Specificity
3 %
Genes
34 %
|
Glaucoma.
By Asper Biogene Asper Biogene LLC in Estonia.
LOXL1, NTF4, LTBP3, COL18A1, WDR36, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, SBF2, MYOC, LMX1B, CYP1B1, PITX2, FOXC1, OPTN, PITX3, PAX6, BEST1
Specificity
5 %
Genes
34 %
|
Eye diseases comprehensive panel.
By Asper Biogene Asper Biogene LLC in Estonia.
ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)
View the complete list with 255 more genes
ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12
Specificity
1 %
Genes
34 %
|
Aniridia, PAX6 sequencing.
By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.
PAX6
Specificity
100 %
Genes
34 %
|
Developmental Eye Disease panel.
By Molecular Vision Laboratory in United States.
DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)
View the complete list with 39 more genes
DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, RAB18, RAB3GAP2, FOXE3, GDF6, NAA10, SOX3, FOXC2, ZEB2, CASK, SIX3, RAB3GAP1, COL4A1, LARGE1, ISPD, POMT1, POMT2, LAMB2, FKRP, FKTN, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, STRA6, CRX, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, ABCB6, PITX3, PAX6, RAX
Specificity
2 %
Genes
34 %
|
Septo-optic dysplasia.
By Molecular Vision Laboratory in United States.
HESX1, SOX2, OTX2, PAX6
Specificity
25 %
Genes
34 %
|
Aniridia.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Cataract with late-onset corneal dystrophy.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Coloboma of optic nerve.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Coloboma, ocular.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Foveal hyperplasia.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Gillespie syndrome.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Keratitis.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Optic nerve hypoplasia.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
Peters anomaly.
By Praxis fuer Humangenetik Wien in Austria.
PAX6
Specificity
100 %
Genes
34 %
|
qChip.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)
View the complete list with 106 more genes
SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1
Specificity
2 %
Genes
67 %
|
qGenEx Craniofacial Anomalies.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)
View the complete list with 116 more genes
UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4
Specificity
1 %
Genes
34 %
|
Aniridia.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Cataract with late-onset corneal dystrophy.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Coloboma, ocular.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Coloboma of optic nerve.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Foveal hyperplasia.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Gillespie syndrome.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Keratitis.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Optic nerve hypoplasia.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Peters anomaly.
By MedGene in Slovakia.
PAX6
Specificity
100 %
Genes
34 %
|
Invitae Aniridia Test.
By Invitae in United States.
PAX6
Specificity
100 %
Genes
34 %
|
Invitae Congenital Cataracts Panel.
By Invitae in United States.
CRYGS, HSF4, BFSP1, EPHA2, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CRYGD, CRYAA, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, VSX2, CTDP1, MAF, SIL1 , (...)
View the complete list with 12 more genes
CRYGS, HSF4, BFSP1, EPHA2, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CRYGD, CRYAA, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, VSX2, CTDP1, MAF, SIL1, GALK1, BCOR, GJA3, FYCO1, AGK, CRYAB, NHS, PITX2, FOXC1, OCRL, PITX3, PAX6
Specificity
4 %
Genes
34 %
|
Invitae WAGR Syndrome Test.
By Invitae in United States.
PAX6, WT1
Specificity
100 %
Genes
67 %
|
Aniridia: PAX6 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia: PAX6 gene deletions-duplications analysis (MLPA).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Diabetes mellitus, neonatal permanent.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, PAX6, NEUROD1
Specificity
6 %
Genes
34 %
|
Glaucoma.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
OLFM2, LOXL1, NTF4, OPTC, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
34 %
|
Glaucoma (Advance).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...)
View the complete list with 14 more genes
OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RPGRIP1, RRM2B, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PITX3, PAX6, BEST1, TTR, MTHFR
Specificity
3 %
Genes
34 %
|
Septooptic dysplasia.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
12 %
Genes
34 %
|
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)
View the complete list with 16 more genes
RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, GUCA1B, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, PAX6, BEST1, AIPL1
Specificity
3 %
Genes
34 %
|
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)
View the complete list with 3 more genes
SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6
Specificity
5 %
Genes
34 %
|
Eye Disorders: Comprehensive Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)
View the complete list with 190 more genes
SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12
Specificity
1 %
Genes
67 %
|
Retina/Photoreceptor Dystrophy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)
View the complete list with 100 more genes
C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, CYP4V2, CNGA3, GRM6, OAT, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, USH2A, TTC8, CLRN1, CEP290, KCNJ13, CNGB3, OTX2, NDP, CACNA1F, ABCA4, ELOVL4, OPA1, RP1, CHM, PAX6, COL2A1, LRP5, SPATA7, BEST1, AIPL1, ZNF513
Specificity
1 %
Genes
34 %
|
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)
View the complete list with 16 more genes
RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, GUCA1B, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, PAX6, BEST1, AIPL1
Specificity
3 %
Genes
34 %
|
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)
View the complete list with 3 more genes
SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6
Specificity
5 %
Genes
34 %
|
Eye Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)
View the complete list with 187 more genes
SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12
Specificity
1 %
Genes
67 %
|
Eye Disorders NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)
View the complete list with 118 more genes
RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513
Specificity
1 %
Genes
34 %
|
Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)
View the complete list with 323 more genes
EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR
Specificity
1 %
Genes
34 %
|
Glaucoma NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
LOXL1, NTF4, COL18A1, WDR36, SLC4A4, LTBP2, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RRM2B, CYP1B1, FOXC1, OPA1, OPTN , (...)
View the complete list with 5 more genes
LOXL1, NTF4, COL18A1, WDR36, SLC4A4, LTBP2, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RRM2B, CYP1B1, FOXC1, OPA1, OPTN, PITX3, PAX6, BEST1, TTR, MTHFR
Specificity
4 %
Genes
34 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)
View the complete list with 372 more genes
AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2
Specificity
1 %
Genes
34 %
|
Septo-optic Dysplasia NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
20 %
Genes
34 %
|
PAX6.
By Fulgent Genetics Fulgent Genetics in United States.
PAX6
Specificity
100 %
Genes
34 %
|
Comprehensive Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)
View the complete list with 427 more genes
RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR
Specificity
1 %
Genes
34 %
|
Ataxia Panel.
By Blueprint Genetics in Finland.
CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...)
View the complete list with 137 more genes
CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5, SERAC1, COX20, CA8, CCDC88C, ZNF423, TCTN3, SLC25A46, GSS, SLC20A2, MARS2, VLDLR, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, COASY, CP, CYP2U1, GBA2, TUBB4A, KIF1C, CAPN1, WDPCP, FBXL4, MME, CLCN2, TMEM231, LARS2, DNMT1, CLPP, GFAP, CASK, OPHN1, OFD1, KCNJ10, PNKP, PRRT2, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, FA2H, PNPLA6, CACNA1A, PPP2R2B, AHI1, CSTB, ZFYVE26, TMEM216, CLN5, TTPA, SACS, PEX7, MTTP, MRE11, ATM, SLC2A1, MTFMT, HARS2, PNKD, WWOX, TPP1, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP27A1, LRPPRC, FXN, HIBCH, NDUFS2, NDUFV1, NDUFAF6, NDUFS7, NDUFS8, PHYH, ALDH5A1, SLC9A6, ABCB7, SPG7, FLVCR1, DNAJC19, COQ8A, NUBPL, MTPAP, TTC19, ACO2, AFG3L2, NDUFS4, POLG, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, PAX6, PRKCG, TWNK, ABHD12, FDXR, FMR1
Specificity
1 %
Genes
34 %
|
Neuro-Ophthalmology Panel.
By Blueprint Genetics in Finland.
FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...)
View the complete list with 18 more genes
FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP, CISD2, SPG7, TK2, TMEM126A, ACO2, OPA3, MFN2, RRM2B, SLC25A4, POLG, OTX2, WFS1, OPA1, GPR143, TUBB3, PAX6, C12orf65, TWNK
Specificity
3 %
Genes
34 %
|
Septo-Optic Dysplasia Panel.
By Blueprint Genetics in Finland.
HESX1, SOX2, OTX2, PAX6
Specificity
25 %
Genes
34 %
|
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.
By Blueprint Genetics in Finland.
COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...)
View the complete list with 34 more genes
COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1, ERCC6, RBP4, FOXE3, MITF, ZIC2, NAA10, TFAP2A, ERCC2, VPS13B, SIX3, RAB3GAP1, PQBP1, COL4A1, SMCHD1, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, ABCB6, PAX6, RAX, FOXL2
Specificity
2 %
Genes
34 %
|
Glaucoma Panel.
By Blueprint Genetics in Finland.
WDR36, TEK, LTBP2, FOXE3, MAF, TBK1, CNTNAP2, COL4A1, MYOC, LMX1B, TMEM126A, OPA3, CYP1B1, PITX2, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
34 %
|
Cataract Panel.
By Blueprint Genetics in Finland.
ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3 , (...)
View the complete list with 49 more genes
ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, ADAMTSL4, ERCC5, COL18A1, WRN, ERCC8, CRYBA4, VSX2, FTL, GJA1, CTDP1, ERCC6, FOXE3, MAF, TFAP2A, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, NF2, FZD4, CYP27A1, GALK1, GALE, GALT, BCOR, GJA3, FYCO1, TMEM70, ALDH18A1, AGK, OPA3, CRYAB, NHS, NDP, OCRL, WFS1, ABCB6, PITX3, PAX6, COL2A1, EYA1, RECQL4
Specificity
2 %
Genes
34 %
|
Isolated aniridia.
By Bioarray in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Peters anomaly.
By Bioarray in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Rapid microarray (CGH and SNP).
By Allele Diagnostics Allele Diagnostics in United States.
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)
View the complete list with 153 more genes
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, CNTNAP2, TCF4, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1
Specificity
2 %
Genes
67 %
|
High-Resolution Rapid Microarray (CGH and SNP).
By Allele Diagnostics Allele Diagnostics in United States.
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)
View the complete list with 153 more genes
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, CNTNAP2, TCF4, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1
Specificity
2 %
Genes
67 %
|
ANIRIDIA.
By Laboratorio de Genetica Clinica SL in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia, Sequencing PAX6 Gene.
By Reference Laboratory Genetics in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Foveal Hypoplasia and Presenile Cataract Syndrome Type 1 , Sequencing PAX6 Gene.
By Reference Laboratory Genetics in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Aniridia , Deletions-Duplications (MLPA) PAX6 Gene.
By Reference Laboratory Genetics in Spain.
PAX6
Specificity
100 %
Genes
34 %
|
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.
By Reference Laboratory Genetics in Spain.
LOXL1, NTF4, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
34 %
|
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.
By Reference Laboratory Genetics in Spain.
MIR184, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7 , (...)
View the complete list with 20 more genes
MIR184, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, CRYBA4, CTDP1, FOXE3, MAF, SIL1, SLC33A1, GALK1, GJA3, FYCO1, AGK, CRYAB, NHS, PITX3, PAX6, EYA1
Specificity
3 %
Genes
34 %
|
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes.
By Reference Laboratory Genetics in Spain.
PXDN, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6
Specificity
15 %
Genes
34 %
|
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.
By Reference Laboratory Genetics in Spain.
LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
12 %
Genes
34 %
|
Hereditary Renal Cancer Panel.
By Baylor Miraca Genetics Laboratories in United States.
GPC3, MET, FLCN, SDHD, CDKN1C, SDHA, SDHB, FH, SDHC, SDHAF2, WT1, PTEN, VHL
Specificity
8 %
Genes
34 %
|
Comprehensive Hereditary Cancer Panel.
By Baylor Miraca Genetics Laboratories in United States.
RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...)
View the complete list with 41 more genes
RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, CBL, PTPN11, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Early Onset Nephrotic Syndrome Evaluation.
By Athena Diagnostics Inc in United States.
PLCE1, LAMB2, NPHS1, NPHS2, WT1
Specificity
20 %
Genes
34 %
|
WT1 DNA Sequencing Test.
By Athena Diagnostics Inc in United States.
WT1
Specificity
100 %
Genes
34 %
|
WT1-Related Disorders - Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.
WT1
Specificity
100 %
Genes
34 %
|
WT1-Related Disorders - Del/Dup Analysis.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.
WT1
Specificity
100 %
Genes
34 %
|
MyeloidDx by NGS.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.
BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3 , (...)
View the complete list with 33 more genes
BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN
Specificity
2 %
Genes
34 %
|
MyeloidDx by NGS.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.
TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)
View the complete list with 33 more genes
TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN
Specificity
2 %
Genes
34 %
|
VistaSeq Renal Cell Cancer Panel.
By Molecular Diagnostic Laboratory LabCorp in United States.
MITF, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
6 %
Genes
34 %
|
WT1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
WT1
Specificity
100 %
Genes
34 %
|
WT1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
WT1
Specificity
100 %
Genes
34 %
|
Abnormal/Ambiguous Genitalia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...)
View the complete list with 52 more genes
WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, AKR1C2, UBR1, TCTN3, B3GLCT, BMP4, DHCR24, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SCARF2, RIPK4, SOX9, POR, FAT4, SALL1, SETBP1, OPHN1, ATRX, ANOS1, KISS1R, LHCGR, NR0B1, LMNA, FIG4, CDKN1C, SRY, PTPN11, DHCR7, CREBBP, CHD7, ARX, AR, CYP17A1, MKS1, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, CYP11B1, MKKS, WT1, STAR
Specificity
2 %
Genes
34 %
|
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
PSMC3IP, RSPO1, WNT4, CYP19A1, B3GLCT, HCCS, CYP11B1, WT1
Specificity
13 %
Genes
34 %
|
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...)
View the complete list with 6 more genes
AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX, AR, CYP17A1, CYB5A, HCCS, CYP11A1, WT1
Specificity
4 %
Genes
34 %
|
Hypospadias Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)
View the complete list with 41 more genes
PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2, EVC, EFNB1, SRD5A2, FGF10, NR5A1, FBXL4, TP63, GLI3, PCNT, WDR35, FAT4, MED12, MID1, SALL1, ZEB2, SETBP1, ATRX, FLNA, FGFR1, FIG4, PEX1, HBA1, GPC3, CDKN1C, FGFR2, PTPN11, DHCR7, CREBBP, ARX, AR, FGFR3, SOX2, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, MKKS, PITX2, HNF1B, WT1
Specificity
2 %
Genes
34 %
|
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...)
View the complete list with 6 more genes
AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX, AR, CYP17A1, CYB5A, HCCS, CYP11A1, WT1
Specificity
4 %
Genes
34 %
|
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
PSMC3IP, RSPO1, WNT4, CYP19A1, B3GLCT, NR5A1, HCCS, CYP11B1, WT1
Specificity
12 %
Genes
34 %
|
Exome PLUS Proteinuria/FSGS & Hematuria.
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
MYO1E, C1QA, C1QC, CLCN5, ITGB4, APOL1, ADAMTS13, DGKE, CFHR1, C3, CD46, CFH, CFI, CFB, MYH9, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2 , (...)
View the complete list with 12 more genes
MYO1E, C1QA, C1QC, CLCN5, ITGB4, APOL1, ADAMTS13, DGKE, CFHR1, C3, CD46, CFH, CFI, CFB, MYH9, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, ALMS1, WT1
Specificity
4 %
Genes
34 %
|
ExomePLUS Cystic Disease & Dysplasia/Agenesis.
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1 , (...)
View the complete list with 2 more genes
REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1, EYA1, INVS
Specificity
5 %
Genes
34 %
|
WT1 mutation analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
WT1
Specificity
100 %
Genes
34 %
|
WT1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
WT1
Specificity
100 %
Genes
34 %
|
WT1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
WT1
Specificity
100 %
Genes
34 %
|
WT1. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Hereditary Kidney Cancer Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, PTEN, MLH1, MSH6, MSH2, VHL
Specificity
5 %
Genes
34 %
|
WAGR syndrome (deletion/duplication analysis of WT1 gene).
By CGC Genetics in Portugal.
WT1
Specificity
100 %
Genes
34 %
|
Wilms tumor (deletion/duplication analysis of WT1 gene).
By CGC Genetics in Portugal.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic syndrome type 4 (deletion/duplication analysis of WT1 gene).
By CGC Genetics in Portugal.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic syndrome type 4 (sequence analysis of WT1 gene).
By CGC Genetics in Portugal.
WT1
Specificity
100 %
Genes
34 %
|
OncoRisk (NGS panel for 48 genes).
By CGC Genetics in Portugal.
EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...)
View the complete list with 28 more genes
EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, PALB2, NF2, PHOX2B, NBN, ATM, NSD1, MEN1, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, EPCAM, APC, VHL, BRCA2, MSH2, BRCA1
Specificity
3 %
Genes
34 %
|
Nephrotic syndrome (NGS panel for 11 genes).
By CGC Genetics in Portugal.
PTPRO, EMP2, ARHGDIA, COQ8B, DGKE, PLCE1, ACTN4, LAMB2, NPHS1, NPHS2, WT1
Specificity
10 %
Genes
34 %
|
OncoRisk Plus (NGS panel for 89 genes).
By CGC Genetics in Portugal.
CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)
View the complete list with 69 more genes
CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Focal glomerulonephrosis (NGS panel for 11 genes).
By CGC Genetics in Portugal.
ANLN, MYO1E, CRB2, CD2AP, TRPC6, ACTN4, INF2, NPHS1, NPHS2, PAX2, WT1
Specificity
10 %
Genes
34 %
|
Denys-Drash syndrome (sequence analysis of WT1 gene).
By CGC Genetics in Portugal.
WT1
Specificity
100 %
Genes
34 %
|
Denys-Drash syndrome (sequence analysis of WT1 gene).
By CGC Genetics in Portugal.
WT1
Specificity
100 %
Genes
34 %
|
Denys Drash Syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Test for WT1-Related Disorders.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
WT1
Specificity
100 %
Genes
34 %
|
WT1-Related Disorders.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic syndrome, type 4.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Frasier syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
WT1
Specificity
100 %
Genes
34 %
|
WAGR syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAGE3, OSGEP, TP53RK, TPRKB, LAMA5, KANK1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2 , (...)
View the complete list with 29 more genes
ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAGE3, OSGEP, TP53RK, TPRKB, LAMA5, KANK1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1
Specificity
3 %
Genes
34 %
|
Steroid-Resistant Nephrotic syndrome via the WT1 Gene.
By PreventionGenetics PreventionGenetics in United States.
WT1
Specificity
100 %
Genes
34 %
|
Wilms Tumor via the WT1 Gene.
By PreventionGenetics PreventionGenetics in United States.
WT1
Specificity
100 %
Genes
34 %
|
Renal Cancer Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
DIS3L2, DICER1, BAP1, SMARCB1, MITF, CDC73, CHEK2, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1 , (...)
View the complete list with 5 more genes
DIS3L2, DICER1, BAP1, SMARCB1, MITF, CDC73, CHEK2, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
4 %
Genes
34 %
|
Female Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, NR3C1, KISS1 , (...)
View the complete list with 83 more genes
CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, NR3C1, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, FEZF1, RSPO1, NSMF, MAP3K1, WNT4, SEMA3A, DHH, IL17RD, CYP19A1, SRD5A2, LHX3, LHX4, HSD17B3, NR5A1, SOX9, POR, SOX3, SEMA3E, SOX10, CLPP, ATRX, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, EIF2B5, PROP1, FGFR2, SRY, PCSK1, LEPR, LEP, EIF2B1, CHD7, ARX, AR, AIRE, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, GALT, CYP11A1, TRIM32, TTC8, MKKS, ARL6, WT1, STAR, FOXL2, HFE
Specificity
1 %
Genes
34 %
|
Male Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...)
View the complete list with 86 more genes
GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FEZF1, RSPO1, NSMF, MAP3K1, WNT4, SEMA3A, DHH, IL17RD, CYP19A1, GATA4, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, NR5A1, SYCP3, DNAH1, SOX9, POR, SOX3, SEMA3E, SOX10, ATRX, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, PROP1, FGFR2, SRY, PCSK1, LEPR, LEP, CHD7, CFTR, ARX, AR, AIRE, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP11A1, TRIM32, TTC8, MKKS, ARL6, WT1, STAR, FOXL2, HFE
Specificity
1 %
Genes
34 %
|
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)
View the complete list with 186 more genes
CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HOXA4, HOXB6, BMP7, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, FGF10, NR5A1, SYCP3, RIPK4, FBXL4, DNAH1, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SEMA3E, SOX10, CLPP, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, FIG4, EIF2B5, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, EIF2B1, DHCR7, CREBBP, CHD7, CFTR, ARX, AR, AIRE, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GALT, CYB5A, BCOR, HCCS, CYP11A1, DHCR24, RBBP8, EVC2, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE
Specificity
1 %
Genes
34 %
|
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)
View the complete list with 138 more genes
CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, PSMC3IP, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, DHCR24, RBBP8, EVC2, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, FGF10, NR5A1, RIPK4, FBXL4, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SOX10, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, FIG4, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, DHCR7, CREBBP, CHD7, ARX, AR, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE
Specificity
1 %
Genes
34 %
|
Nephrotic syndrome and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)
View the complete list with 22 more genes
FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1
Specificity
3 %
Genes
34 %
|
Nephrotic syndrome and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)
View the complete list with 22 more genes
FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1
Specificity
3 %
Genes
34 %
|
Nephrotic syndrome and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)
View the complete list with 22 more genes
FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1
Specificity
3 %
Genes
34 %
|
Meacham syndrome.
By Institute of Human Genetics Cologne University in Germany.
WT1
Specificity
100 %
Genes
34 %
|
WT1-Related Disorders.
By Institute of Human Genetics Cologne University in Germany.
WT1
Specificity
100 %
Genes
34 %
|
WT1-Related Disorders.
By MGZ Medical Genetics Center in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Nephrology Endocrinology and Electrolytes - panels.
By MGZ Medical Genetics Center in Germany.
UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...)
View the complete list with 97 more genes
UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT, SOX17, HPSE2, ETV5, LRIG2, SLC7A9, SEC63, WNK4, CUL3, MYO1E, CLCN5, PAX8, REN, MUC1, CRB2, FRAS1, WNT4, FREM2, GRIP1, APPL1, PRKCSH, HOGA1, SMARCAL1, ITGA3, COQ8B, BMP4, FREM1, BLK, KLF11, PAX4, GREM1, ZIC3, KLHL3, APOL1, DGKE, NOD2, CD2AP, ACE, ACTA2, CLCNKA, MYH9, GATA3, SIX1, SIX5, SALL1, OFD1, KCNJ10, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, ACTN4, SLC12A3, LAMB2, COL4A4, UMOD, INF2, HNF4A, PDX1, INS, ANOS1, CASR, KCNJ11, CEL, WNK1, PKHD1, ABCC8, GRHPR, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, SLC3A1, AGXT, COQ2, CYP24A1, COQ6, PDSS2, COQ9, GCK, OCRL, RET, HNF1B, WT1, EYA1, NEUROD1, HNF1A, ALPL, VHL
Specificity
1 %
Genes
34 %
|
Hereditary Cancer Syndromes - panels.
By MGZ Medical Genetics Center in Germany.
RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...)
View the complete list with 80 more genes
RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1, POLD1, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Renal Cancer.
By MGZ Medical Genetics Center in Germany.
BAP1, SMARCB1, CHEK2, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, VHL
Specificity
7 %
Genes
34 %
|
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome.
By Bioscientia GmbH Center for Human Genetics in Germany.
WT1
Specificity
100 %
Genes
34 %
|
WT1-Related Disorders.
By Bioscientia GmbH Center for Human Genetics in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Myeloid Tumor Panel.
By Centogene AG - the Rare Disease Company in Germany.
CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)
View the complete list with 34 more genes
CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN
Specificity
2 %
Genes
34 %
|
Denys-Drash syndrome.
By Centogene AG - the Rare Disease Company in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic syndrome panel.
By Centogene AG - the Rare Disease Company in Germany.
ARHGDIA, DGKE, PLCE1, LAMB2, NPHS1, NPHS2, WT1
Specificity
15 %
Genes
34 %
|
Mesothelioma, somatic.
By Centogene AG - the Rare Disease Company in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Wilms tumor type 1, familial.
By Centogene AG - the Rare Disease Company in Germany.
WT1
Specificity
100 %
Genes
34 %
|
WT1 related disorders.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
WT1
Specificity
100 %
Genes
34 %
|
Renal cell carcinoma Panel.
By CeGaT GmbH in Germany.
BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6 , (...)
View the complete list with 4 more genes
BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
5 %
Genes
34 %
|
Renal Dysplasia, Renal Agenesia, CAKUT Panel.
By CeGaT GmbH in Germany.
ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...)
View the complete list with 12 more genes
ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8, TFAP2A, GATA3, SIX1, SIX5, GATA2, PAX2, NPHP3, FOXC1, RET, HNF1B, WT1, EYA1
Specificity
4 %
Genes
34 %
|
Nephrotic Syndrome Panel.
By CeGaT GmbH in Germany.
PTPRO, EMP2, ARHGDIA, WDR73, SMARCAL1, ITGA3, COQ8B, DGKE, PLCE1, LAMB2, NPHS1, NPHS2, COQ2, WT1
Specificity
8 %
Genes
34 %
|
WT1- Related Disorders.
By GGA - Galil Genetic Analysis in Israel.
WT1
Specificity
100 %
Genes
34 %
|
Cancer Predisposition.
By Asper Biogene Asper Biogene LLC in Estonia.
DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)
View the complete list with 69 more genes
DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
NGS HemeOnc Panel.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
CSF3R, ETV6, IDH1, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, SH2B3, ASXL1, KIT, EZH2, DNMT3A, SETBP1, PHF6, MPL, CEBPA , (...)
View the complete list with 9 more genes
CSF3R, ETV6, IDH1, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, SH2B3, ASXL1, KIT, EZH2, DNMT3A, SETBP1, PHF6, MPL, CEBPA, GATA2, CBL, PTPN11, NRAS, KRAS, IDH2, WT1, TP53, RUNX1
Specificity
4 %
Genes
34 %
|
WT1 Exons 7 and 9 Mutation Analysis.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
WT1
Specificity
100 %
Genes
34 %
|
Denys-Drash syndrome.
By Praxis fuer Humangenetik Wien in Austria.
WT1
Specificity
100 %
Genes
34 %
|
Frasier syndrome.
By Praxis fuer Humangenetik Wien in Austria.
WT1
Specificity
100 %
Genes
34 %
|
Meacham syndrome.
By Praxis fuer Humangenetik Wien in Austria.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic syndrome, type 4.
By Praxis fuer Humangenetik Wien in Austria.
WT1
Specificity
100 %
Genes
34 %
|
Wilms tumor.
By Praxis fuer Humangenetik Wien in Austria.
WT1
Specificity
100 %
Genes
34 %
|
qGenEx Sex development disorders.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
CBX2, DMRT1, NR3C1, AMHR2, AMH, MAMLD1, WDR60, NEK1, FRAS1, RSPO1, MAP3K1, ZFPM2, TSPYL1, WNT4, ROR2, DHH, HOXA13, FREM2, GRIP1, DYNC2H1 , (...)
View the complete list with 28 more genes
CBX2, DMRT1, NR3C1, AMHR2, AMH, MAMLD1, WDR60, NEK1, FRAS1, RSPO1, MAP3K1, ZFPM2, TSPYL1, WNT4, ROR2, DHH, HOXA13, FREM2, GRIP1, DYNC2H1, CYP19A1, AKR1C2, TCTN3, CEP41, GATA4, B9D1, SRD5A2, HSD17B3, NR5A1, RIPK4, SOX9, POR, SOX3, ATRX, LHCGR, NR0B1, SRY, DHCR7, ARX, AR, CYP17A1, CYB5A, CYP11A1, HSD3B2, CYP11B1, MKKS, WT1, STAR
Specificity
3 %
Genes
34 %
|
Denys-Drash syndrome.
By MedGene in Slovakia.
WT1
Specificity
100 %
Genes
34 %
|
Frasier syndrome.
By MedGene in Slovakia.
WT1
Specificity
100 %
Genes
34 %
|
Meacham syndrome.
By MedGene in Slovakia.
WT1
Specificity
100 %
Genes
34 %
|
Nephrotic syndrome, type 4.
By MedGene in Slovakia.
WT1
Specificity
100 %
Genes
34 %
|
Wilms tumor.
By MedGene in Slovakia.
WT1
Specificity
100 %
Genes
34 %
|
Invitae Multi-Cancer Panel.
By Invitae in United States.
DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...)
View the complete list with 60 more genes
DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Invitae Renal/Urinary Tract Cancers Panel.
By Invitae in United States.
DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)
View the complete list with 4 more genes
DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
5 %
Genes
34 %
|
Invitae Disorders of Male Sex Development Panel.
By Invitae in United States.
MAP3K1, DHH, SRD5A2, NR5A1, NR0B1, SRY, AR, WT1
Specificity
13 %
Genes
34 %
|
Invitae Wilms Tumor Panel.
By Invitae in United States.
DIS3L2, GPC3, CDKN1C, WT1
Specificity
25 %
Genes
34 %
|
Invitae WT1-Related Disorders Test.
By Invitae in United States.
WT1
Specificity
100 %
Genes
34 %
|
Invitae Pediatric Solid Tumors Panel.
By Invitae in United States.
DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...)
View the complete list with 28 more genes
DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL
Specificity
3 %
Genes
34 %
|
Nephrotic syndrome type 4: WT1 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
WT1
Specificity
100 %
Genes
34 %
|
NEPHROTIC SYNDROME.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
PTPRO, ARHGDIA, MYO1E, STS, ITGA3, CD2AP, TRPC6, PLCE1, LAMB2, INF2, NPHS1, NPHS2, MPV17, COQ6, WT1
Specificity
7 %
Genes
34 %
|
ONCOLOGY, PANEL.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...)
View the complete list with 60 more genes
POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, KIT, PRSS1, SMARCB1, SMARCA4, TERT, DKC1, FANCB, ERCC3, ERCC2, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, ATM, NSD1, TSC1, TSC2, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Glomerulosclerosis, focal segmental.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
MYO1E, CD2AP, TRPC6, PLCE1, ACTN4, INF2, NPHS1, NPHS2, PAX2, WT1
Specificity
10 %
Genes
34 %
|
Hereditary Cancer Syndrome: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)
View the complete list with 40 more genes
BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Renal Cancer: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, SDHB, FH, WT1, PTEN, VHL
Specificity
10 %
Genes
34 %
|
Hereditary Cancer Syndrome: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)
View the complete list with 35 more genes
BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Hereditary Cancer NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...)
View the complete list with 92 more genes
RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT2, AXIN2, PDGFRA, EGFR, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, TERT, MITF, ATR, FANCB, CTNNB1, ERCC3, ERCC2, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, PRKAR1A, SBDS, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, EXT1, TP53, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Renal/Kidney NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BAP1, SMARCB1, MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...)
View the complete list with 2 more genes
BAP1, SMARCB1, MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
5 %
Genes
34 %
|
WT1.
By Fulgent Genetics Fulgent Genetics in United States.
WT1
Specificity
100 %
Genes
34 %
|
Comprehensive Cancer Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...)
View the complete list with 104 more genes
RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT1, EXT2, AXIN2, POLE, PDGFRA, GREM1, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, SMARCA4, SMARCE1, TERT, MITF, EZH2, ATR, FANCB, ERCC3, ERCC2, CASR, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Renal / Urinary Cancer Comprehensive Panel.
By Fulgent Genetics Fulgent Genetics in United States.
DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...)
View the complete list with 7 more genes
DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
4 %
Genes
34 %
|
Onco microarray for MDS/AML.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3 , (...)
View the complete list with 40 more genes
SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3, NUP214, FIP1L1, PBX1, TCF3, RARA, CBFB, PICALM, DEK, PML, TRPS1, PDGFRB, RUNX1T1, BCR, ETV6, IDH1, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, TERT, TFG, EZH2, DNMT3A, GATA1, FUS, NF1, GATA2, ALK, CBL, PTPN11, NRAS, KRAS, IDH2, WT1, TP53, RUNX1
Specificity
2 %
Genes
34 %
|
KidneySeq - 264 Genes.
By Iowa Institute of Human Genetics University of Iowa in United States.
FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)
View the complete list with 232 more genes
FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR
Specificity
1 %
Genes
34 %
|
Nephrotic Syndrome Panel.
By Blueprint Genetics in Finland.
FN1, FAN1, ARHGAP24, NUP107, SGPL1, ANLN, PTPRO, EMP2, MAFB, ARHGDIA, MYO1E, WDR73, CRB2, SMARCAL1, ITGA3, COQ8B, TTC21B, APOL1, DGKE, CD2AP , (...)
View the complete list with 16 more genes
FN1, FAN1, ARHGAP24, NUP107, SGPL1, ANLN, PTPRO, EMP2, MAFB, ARHGDIA, MYO1E, WDR73, CRB2, SMARCAL1, ITGA3, COQ8B, TTC21B, APOL1, DGKE, CD2AP, MYH9, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, LMX1B, COQ2, WT1
Specificity
3 %
Genes
34 %
|
Renal Malformation Panel.
By Blueprint Genetics in Finland.
DSTYK, PBX1, ROBO2, AGT, REN, CCNQ, FREM2, BMP4, FREM1, ACE, ACTG2, FANCB, FOXC2, GATA3, SIX1, SIX5, SALL1, PAX2, RET, HNF1B , (...)
View the complete list with 2 more genes
DSTYK, PBX1, ROBO2, AGT, REN, CCNQ, FREM2, BMP4, FREM1, ACE, ACTG2, FANCB, FOXC2, GATA3, SIX1, SIX5, SALL1, PAX2, RET, HNF1B, WT1, EYA1
Specificity
5 %
Genes
34 %
|
Hereditary Pediatric Cancer Panel.
By Blueprint Genetics in Finland.
REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...)
View the complete list with 51 more genes
REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, SDHA, MEN1, TMEM127, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL
Specificity
2 %
Genes
34 %
|
Comprehensive Hereditary Cancer Panel.
By Blueprint Genetics in Finland.
REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)
View the complete list with 126 more genes
REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L, POT1, AIP, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, GREM1, POLD1, SRP72, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KITLG, KIT, SMARCB1, SMARCA4, TERT, TERC, MITF, EZH2, RRAS, RASA2, NSUN2, SPRED1, DKC1, FANCB, LZTR1, ERCC3, ERCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, POLH, XPC, SOS2, TINF2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Premature Ovarian Failure Panel.
By Blueprint Genetics in Finland.
FSHR, BMP15, NOBOX, CYP19A1, GNAS, NR5A1, POR, LHCGR, LMNA, CYP17A1, GALT, POLG, WT1, STAR, FOXL2
Specificity
7 %
Genes
34 %
|
Hereditary Renal Cancer Panel.
By Blueprint Genetics in Finland.
REST, DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN , (...)
View the complete list with 6 more genes
REST, DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
4 %
Genes
34 %
|
Abnormal Genitalia/ Disorders of Sex Development Panel.
By Blueprint Genetics in Finland.
MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR , (...)
View the complete list with 29 more genes
MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR, ERCC3, ATRX, CYP21A2, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, NR0B1, FIG4, CDKN1C, SRY, DHCR7, CREBBP, CHD7, ARX, AR, CYP17A1, MKS1, BCOR, CYP11A1, HSD3B2, CYP11B1, WT1, STAR
Specificity
3 %
Genes
34 %
|
Focus::Myeloid™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)
View the complete list with 34 more genes
CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN
Specificity
2 %
Genes
34 %
|
Focus::Myeloid™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR , (...)
View the complete list with 30 more genes
CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN
Specificity
2 %
Genes
34 %
|
Focus::MDS™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, JAK2, FLT3, ASXL1, KMT2A, KDM6A, EZH2, DNMT3A, SETBP1, CEBPA, CBL, PTPN11, NRAS , (...)
View the complete list with 7 more genes
ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, JAK2, FLT3, ASXL1, KMT2A, KDM6A, EZH2, DNMT3A, SETBP1, CEBPA, CBL, PTPN11, NRAS, KRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1
Specificity
4 %
Genes
34 %
|
Focus::AML™ NGS Panel.
By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.
BCORL1, CSF3R, ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, CALR, ASXL1, KIT, KMT2A, KDM6A, EZH2 , (...)
View the complete list with 17 more genes
BCORL1, CSF3R, ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, CALR, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, GATA1, SETBP1, PHF6, MPL, CEBPA, GATA2, CBL, PTPN11, NRAS, KRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1
Specificity
3 %
Genes
34 %
|
Nephroblastoma.
By Bioarray in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Solid Tumor Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)
View the complete list with 102 more genes
BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2, KEAP1, ERBB4, PPP2R1A, FAT1, RXRA, MYC, MN1, AFF3, ERBB2, DDR2, CDK12, CCND1, MAP3K3, KDR, FLT1, PDGFRB, CDK6, NTRK2, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, FLT3, AKT2, POLD1, CSF1R, PIK3CA, GATA4, CDKN1B, BAP1, FANCA, SMAD2, GNAS, KIT, FLT4, TEK, SMARCB1, SMARCA4, ERBB3, TERT, TGFBR2, NOTCH1, MTOR, SPRED1, CTNNB1, MED12, ERCC2, KDM5C, ATRX, SETD2, KMT2D, FGFR1, NF1, NTRK1, BRIP1, SMAD4, CHEK2, MET, CDKN2A, STK11, CDH1, PALB2, NF2, ATM, ALK, TSC1, TSC2, MAP2K2, RIT1, FGFR2, SOS1, SHOC2, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, WT1, PPARG, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1 , (...)
View the complete list with 13 more genes
ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1
Specificity
4 %
Genes
34 %
|
CNS Tumor Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)
View the complete list with 28 more genes
H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, WNT1, SMARCB1, SMARCA4, TERT, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, ATRX, SETD2, FGFR1, NF1, NTRK1, MET, CDKN2A, SUFU, NF2, PTCH1, FGFR2, KRAS, BRAF, IDH2, SHH, RB1, WT1, TP53, PTEN
Specificity
3 %
Genes
34 %
|
FoundationOne® Heme.
By Foundation Medicine, Inc. in United States.
TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)
View the complete list with 385 more genes
TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2, ID3, KDM2B, JAK1, JUN, KDM4C, KLHL6, IKBKE, INPP4B, IKZF3, HSP90AA1, JARID2, LRP1B, LEF1, APH1A, BCL2L2, AURKB, ARFRP1, ARHGAP26, MDM4, MAP2K4, MAGED1, BTLA, MCL1, EMSY, BCL7A, MKI67, BTG2, CHEK1, NUP98, PCLO, PCBP1, PASK, PDCD1, PBRM1, DAXX, PDCD11, PDCD1LG2, EPHB1, EPHA3, EBF1, DOT1L, EPHA5, ECT2L, EPHA7, FGF6, FBXO11, FAF1, ERG, FHIT, TENT5C, ETS1, FRS2, FOXO3, GADD45B, CD274, MYO18A, CCT6B, CDK8, CCND3, CD22, NOD1, CD58, GSK3B, IRF1, IRF4, IRS2, PIK3CG, CRKL, MAPK1, MAP3K14, AXIN1, CRLF2, INHBA, XBP1, BCL10, IRF8, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, RICTOR, KDM5A, EED, ERBB4, PPP2R1A, MAP3K7, ELP2, CIC, AXL, CD70, CAD, NUP93, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, CDKN2B, PTPRO, TCF3, RARA, CBFB, ERBB2, MSH3, MAFB, DDR2, MDM2, IGF1R, MALT1, CDK12, HDAC4, BCL2, CCND1, MIB1, KAT6A, DDX3X, CD79B, CD79A, B2M, PLCG2, NCSTN, TNFAIP3, KDR, FLT1, WISP3, NSD2, RAD51, PDGFRB, CTCF, FBXO31, CDK6, SRC, ICK, MAP3K1, CCND2, NTRK2, CARD11, POT1, TRAF3, NOTCH2, TYK2, PRKDC, PIK3R1, CIITA, NFKBIA, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, IL7R, BCORL1, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, CD36, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, TGFBR2, NOTCH1, ATR, MTOR, ZMYM3, TAF1, GATA1, CTNNB1, FOXP1, MED12, S1PR2, GATA3, FGF3, SOX10, HGF, ACTB, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, RELN, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, LRRK2, NF1, NTRK1, DNM2, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, TMSB4X, GID4, SERP2, ZNF703, FLYWCH1, PAG1, MEF2B, GNA12, EXOSC6, DUSP9, AURKA, TOP1, P2RY8, MAP3K6, FGF4, SMARCA1, SUZ12, DUSP2, NCOR2, DTX1, ASMTL, BRSK1, FGF19, RHOA, BCL11B, FOXO1, ADGRA2, PTPN6, PTPN2, RASGEF1A, PRSS8, SGK1, STAT6, SOCS3, TCL1A, SOCS2, SPEN, SOCS1, STAT5A, SPOP, STAT4, YY1AP1, ZNF24, WDR90, TLL2, XPO1, ZNF217, TMEM30A, TRAF2, TNFRSF17, TNFRSF14, U2AF2, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MEF2C, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, BCOR, AMER1, TUSC3, SDHB, IDH2, RAF1, SDHC, CPS1, TNFRSF11A, RET, RB1, WT1, HNF1A, FOXL2, PC, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Hereditary Cancer Comprehensive Panel.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.
TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...)
View the complete list with 53 more genes
TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA, BAP1, XRCC2, PRSS1, MYH8, MYH3, MYH6, TERT, TERC, CTNNA1, MYH11, ATR, MYH9, MYH14, MYH2, MYH7, NTRK1, RAD51D, BARD1, RAD51C, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, SDHB, SDHC, RET, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
NeoTYPE® Discovery Profile for Solid Tumors.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.
IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)
View the complete list with 295 more genes
IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Caris MI TumorSeek 592-Gene NGS Panel.
By Caris Life Sciences in United States.
ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)
View the complete list with 571 more genes
ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
OmniSeq Comprehensive.
By OmniSeq, Inc. in United States.
NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)
View the complete list with 124 more genes
NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2, MCL1, MAGOH, CSNK2A1, DCUN1D1, PDCD1LG2, ERG, CD274, MYO18A, IFITM3, CD44, MAPK1, ESR1, FGFR4, NTRK3, MYCL, ROS1, ARAF, NFE2L2, CCNE1, IL6, RAC1, ERBB4, PPP2R1A, AXL, BIRC3, MYC, SMO, ERBB2, DDR2, MDM2, IGF1R, ETV5, CCND1, KDR, CDK6, SRC, NTRK2, PIK3R1, AKT1, AKT3, GNA11, FBXW7, IDH1, MYD88, PDGFRA, SF3B1, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, BAP1, GNAS, JAK3, KIT, SMARCB1, ERBB3, NKX2-1, TERT, ACVRL1, EZH2, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, GATA3, FGFR1, NF1, NTRK1, BTK, MPL, PAX5, GATA2, SMAD4, MAX, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, PNP, STAT3, SOX2, IDH2, RAF1, RET, RB1, WT1, PPARG, HNF1A, FOXL2, TP53, PTEN, MLH1, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
DENYS-DRASH SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
WT1
Specificity
100 %
Genes
34 %
|
FRASIER SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
WT1
Specificity
100 %
Genes
34 %
|
WILMS TUMOR (NEPHROBLASTOMA).
By Laboratorio de Genetica Clinica SL in Spain.
WT1
Specificity
100 %
Genes
34 %
|
NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS.
By Laboratorio de Genetica Clinica SL in Spain.
PTPRO, PLCE1, WT1
Specificity
34 %
Genes
34 %
|
NEPHROTIC SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
LAMB2, NPHS1, NPHS2, WT1
Specificity
25 %
Genes
34 %
|
NEPHROTIC SYNDROME, EARLY-ONSET.
By Laboratorio de Genetica Clinica SL in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Congenital Nephrotic Syndrome Type 4 , Sequencing WT1 Gene.
By Reference Laboratory Genetics in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Wilms Tumor , Sequencing WT1.
By Reference Laboratory Genetics in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Denys-Drash Syndrome , Sequencing WT1 Gene.
By Reference Laboratory Genetics in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Congenital Nephrotic Syndrome Type 4 , Deletions-Duplications (MLPA) WT1 Gene.
By Reference Laboratory Genetics in Spain.
WT1
Specificity
100 %
Genes
34 %
|
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes.
By Reference Laboratory Genetics in Spain.
PTPRO, ARHGDIA, MYO1E, ITGA3, CD2AP, TRPC6, PLCE1, LAMB2, INF2, NPHS1, NPHS2, COQ6, WT1
Specificity
8 %
Genes
34 %
|
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.
By Reference Laboratory Genetics in Spain.
CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...)
View the complete list with 70 more genes
CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.
By Reference Laboratory Genetics in Spain.
DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)
View the complete list with 1 more genes
DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
5 %
Genes
34 %
|
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.
By Reference Laboratory Genetics in Spain.
SH3GL1, LPP, CBFB, PICALM, IDH1, JAK2, NPM1, FLT3, ASXL1, KIT, TERT, TERC, DNMT3A, CEBPA, GATA2, NSD1, KRAS, IDH2, WT1, TP53 , (...)
View the complete list with 1 more genes
SH3GL1, LPP, CBFB, PICALM, IDH1, JAK2, NPM1, FLT3, ASXL1, KIT, TERT, TERC, DNMT3A, CEBPA, GATA2, NSD1, KRAS, IDH2, WT1, TP53, RUNX1
Specificity
5 %
Genes
34 %
|
Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes.
By Reference Laboratory Genetics in Spain.
MYO1E, CD2AP, TRPC6, PLCE1, ACTN4, INF2, NPHS1, NPHS2, PAX2, WT1
Specificity
10 %
Genes
34 %
|
Phosphorus Renal/Urinary Tract Cancer Panel.
By Phosphorus Diagnostics LLC in United States.
DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...)
View the complete list with 7 more genes
DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
4 %
Genes
34 %
|
Phosphorus Pan-Cancer Panel.
By Phosphorus Diagnostics LLC in United States.
DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...)
View the complete list with 63 more genes
DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Phosphorus Pediatric Cancers Panel.
By Phosphorus Diagnostics LLC in United States.
DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...)
View the complete list with 33 more genes
DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL
Specificity
2 %
Genes
34 %
|
Tempus xT assay.
By Tempus Labs, Inc. in United States.
HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)
View the complete list with 571 more genes
HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Wilms Tumor: Gene Deletion/Duplication Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
CDKN1C, WT1
Specificity
50 %
Genes
34 %
|
Renal Cancer: Gene Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)
View the complete list with 3 more genes
BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, VHL
Specificity
5 %
Genes
34 %
|
Renal Cancer: Gene Deletion/Duplication Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)
View the complete list with 2 more genes
BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, MSH2, VHL
Specificity
5 %
Genes
34 %
|
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...)
View the complete list with 123 more genes
RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC, ANTXR1, RHBDF2, KDR, CYLD, GALNT12, BUB1B, XPA, ERCC5, DICER1, WRN, CD96, RSPO1, ESCO2, KLHDC8B, AIP, LIG4, EXT1, EXT2, AKT1, AXIN2, POLE, PDGFRA, POLD1, PIK3CA, ERCC4, CDKN1B, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, GLMN, SMARCB1, SMARCA4, ERCC6, TERT, LYST, MITF, GLI3, TGFBR1, ANTXR2, ATR, DKC1, FANCB, ERCC3, ERCC2, CYP21A2, NF1, NTRK1, WAS, RTEL1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, TINF2, BLM, FANCC, SDHA, MEN1, TMEM127, RNASEL, NDUFA13, SDHB, FAH, FH, SDHC, KIF1B, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, HFE, BRCA2, BRCA1
Specificity
1 %
Genes
34 %
|
Wilms Tumor: Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
CDKN1C, WT1
Specificity
50 %
Genes
34 %
|
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...)
View the complete list with 12 more genes
ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS, HRAS, BRAF, IDH2, RET, RB1, WT1, TP53, PTEN, APC, VHL, BRCA2, BRCA1
Specificity
4 %
Genes
34 %
|
Hereditary Cancer Syndrome: Gene Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)
View the complete list with 40 more genes
BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)
View the complete list with 35 more genes
BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
2 %
Genes
34 %
|
Syndromic disorders of sexual development: gene sequencing panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
GATA4, SOX9, POR, ATRX, DHCR7, ARX, WT1
Specificity
15 %
Genes
34 %
|
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome; Wagr Is also known as wagr syndrome, chromosome 11p13 deletion syndrome;del(11)(p13); deletion 11p13; monosomy 11p13; wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome.
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome; Wagr