Panel Name, Specifity and genes Tested/covered |
Platelet Disorders.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)
View the complete list with 35 more genes
RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8, ABCA1, GP1BA, DHCR24, A2M, ANO6, ADRA2A, FERMT3, GP6, FGA, FGB, GGCX, MYO5A, GNAQ, RAB27A, TBXA2R, VPS33B, FGG, MLPH, PLA2G7, P2RX1, KLKB1, P2RY12, USF1, VIPAS39, TBXAS1, STIM1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL
Specificity
2 %
Genes
100 %
|
Albinism sequencing panel.
By Genetic Services Laboratory University of Chicago in United States.
TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH
Specificity
5 %
Genes
100 %
|
Albinism Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH
Specificity
5 %
Genes
100 %
|
MYO5A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
MYO5A
Specificity
100 %
Genes
100 %
|
Griscelli Syndrome type 1 (sequence analysis of MYO5A gene).
By CGC Genetics in Portugal.
MYO5A
Specificity
100 %
Genes
100 %
|
Albinism (NGS panel for 12 genes).
By CGC Genetics in Portugal.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
9 %
Genes
100 %
|
Oculocutaneous Albinism Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
8 %
Genes
100 %
|
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene.
By PreventionGenetics PreventionGenetics in United States.
MYO5A
Specificity
100 %
Genes
100 %
|
Hypopigmentation Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)
View the complete list with 10 more genes
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, KITLG, MYO5A, RAB27A, MLPH, SLC38A8, AP3D1
Specificity
4 %
Genes
100 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
100 %
|
Griscelli syndrome type 1.
By Centogene AG - the Rare Disease Company in Germany.
MYO5A
Specificity
100 %
Genes
100 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)
View the complete list with 1185 more genes
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B
Specificity
1 %
Genes
100 %
|
Albinism.
By Centogene AG - the Rare Disease Company in Germany.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
|
Genetic disorders with abnormal pigmentation Panel.
By CeGaT GmbH in Germany.
HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)
View the complete list with 12 more genes
HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A, RAB27A, MLPH, KRT14, SLC40A1, EPG5, TFR2, HAMP, HJV, ENPP1, POGLUT1, POFUT1, ADAM10
Specificity
4 %
Genes
100 %
|
Defects of phagocytosis Panel.
By CeGaT GmbH in Germany.
HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)
View the complete list with 39 more genes
HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB, WAS, DNM2, VPS13B, ACTB, GATA1, CTSC, TERT, CSF2RA, NCF2, NCF4, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, MLPH, CSF3R, IFNGR1, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, IL12RB1, JAGN1, IL12B, ISG15, NCF1, ITGB2, CEBPE, IRF8, ACKR1, MPO, FCGR3B, FPR1
Specificity
2 %
Genes
100 %
|
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel.
By Molecular Vision Laboratory in United States.
TYRP1, OCA2, SLC45A2, RET, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)
View the complete list with 9 more genes
TYRP1, OCA2, SLC45A2, RET, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, KIT, MYO5A, RAB27A, MLPH, SLC38A8
Specificity
4 %
Genes
100 %
|
Griscelli syndrome, type 1: MYO5A gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
MYO5A
Specificity
100 %
Genes
100 %
|
Albinism.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
|
Albinism NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)
View the complete list with 372 more genes
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7
Specificity
1 %
Genes
100 %
|
MYO5A.
By Fulgent Genetics Fulgent Genetics in United States.
MYO5A
Specificity
100 %
Genes
100 %
|
Primary Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 255 more genes
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B
Specificity
1 %
Genes
100 %
|
Albinism Panel.
By Blueprint Genetics in Finland.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A , (...)
View the complete list with 3 more genes
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH, SLC38A8
Specificity
5 %
Genes
100 %
|
Hemophagocytic Lymphohistiocytosis Panel.
By Blueprint Genetics in Finland.
RECQL4, PRF1, MAGT1, LYST, SH2D1A, MYO5A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, STXBP2, ITK, FADD
Specificity
7 %
Genes
100 %
|
Comprehensive Hematology Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)
View the complete list with 219 more genes
BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B
Specificity
1 %
Genes
100 %
|
Bone Marrow Failure Syndrome Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)
View the complete list with 102 more genes
BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1, AP3B1, AK2, ANKRD26, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, MPL, RTEL1, WAS, NF1, VPS13B, ACTB, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, CSF2RA, SH2D1A, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, MYO5A, RAB27A, IKZF1, ETV6, CSF3R, IFNGR2, UNC13D, FAS, STX11, ELANE, XIAP, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, JAGN1, ACD, PGM3, DNAJC21, SAMD9, SAMD9L, DDX41, RPS29, SMARCD2, ERCC6L2
Specificity
1 %
Genes
100 %
|
Griscelli syndrome, type 1.
By Bioarray in Spain.
MYO5A
Specificity
100 %
Genes
100 %
|
ALBINISM: NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
8 %
Genes
100 %
|
GRISCELLI DISEASE.
By Laboratorio de Genetica Clinica SL in Spain.
MYO5A, RAB27A, MLPH
Specificity
34 %
Genes
100 %
|
Albinisim panel.
By LifeLabs Genetics in Canada.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
|
Griscelli Syndrome Type 1, Sequencing MYO5A Gene.
By Reference Laboratory Genetics in Spain.
MYO5A
Specificity
100 %
Genes
100 %
|
Griscelli Syndrome , Panel Massive Sequencing (NGS) MLPH, MYO5A, RAB27A Genes.
By Reference Laboratory Genetics in Spain.
MYO5A, RAB27A, MLPH
Specificity
34 %
Genes
100 %
|
Albinism , Panel Massive Sequencing (NGS) 12 Genes.
By Reference Laboratory Genetics in Spain.
TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
9 %
Genes
100 %
|