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 %
|
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
5 %
Genes
100 %
|
STIM1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
STIM1
Specificity
100 %
Genes
100 %
|
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
ADA, IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
6 %
Genes
100 %
|
STIM1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
STIM1
Specificity
100 %
Genes
100 %
|
Neuromuscular Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)
View the complete list with 91 more genes
GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, FKRP, CAV3, DYSF, SCN4A, LAMB2, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, TCAP, SGCD, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, LAMP2, FKBP14, TNXB, CHST14, MYL2, COL12A1, KLHL41, LIMS2, MYF6, TNPO3, HNRNPDL, POMK, STAC3, SPEG, LMOD3, GMPPB, STIM1, ORAI1, COL13A1, HACD1, SYT2, PREPL, LRP4, ALG14
Specificity
1 %
Genes
100 %
|
Myopathy with Tubular Aggregates Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
STIM1, ORAI1
Specificity
50 %
Genes
100 %
|
Hereditary ichthyosis (NGS panel of 53 genes).
By CGC Genetics in Portugal.
SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
|
Hereditary ichthyosis (NGS panel of 53 genes).
By CGC Genetics in Portugal.
SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
|
Tubular Aggregate Myopathy via the STIM1 Gene.
By PreventionGenetics PreventionGenetics in United States.
STIM1
Specificity
100 %
Genes
100 %
|
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, STIM1
Specificity
7 %
Genes
100 %
|
Comprehensive Neuromuscular Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)
View the complete list with 104 more genes
AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, CHRNG, COL12A1, GLE1, KLHL41, LIMS2, TNPO3, TNNI2, HNRNPDL, TOR1AIP1, POMK, STAC3, LMOD3, GMPPB, TNNT3, MYH3, ECEL1, STIM1, MICU1, COL13A1, SYT2, PREPL, ALG14, HNRNPA2B1, HNRNPA1, MYO18B
Specificity
1 %
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 %
|
STIM1.
By MGZ Medical Genetics Center in Germany.
STIM1
Specificity
100 %
Genes
100 %
|
Muscle Weakness (Myopathy, Muscular Dystrophy).
By MGZ Medical Genetics Center in Germany.
TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)
View the complete list with 159 more genes
TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA, VCP, MTO1, AGK, TMEM70, CAVIN1, PGM1, SLC25A3, PNPLA2, POLG2, TK2, GFM1, HADHB, ALG2, SCO2, PUS1, TAZ, ABHD5, LPIN1, COX15, ISCU, CPT1A, CHAT, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SEPT9, KIF21A, SDHA, DPAGT1, DMD, PHOX2B, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, CLCN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, HSPG2, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, GOSR2, HNRNPU, SNAP25, CUL4B, MYH14, LAMP2, LAS1L, FKBP14, TNXB, HINT1, AARS, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, TOR1AIP1, POMK, STAC3, GMPPB, PIEZO2, MYBPC1, FDX2, PGK1, HADH, STIM1, ORAI1, MICU1, PREPL, LRP4, ALG14, SLC52A3, GLRB, GLRA1, SLC6A5
Specificity
1 %
Genes
100 %
|
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).
By MGZ Medical Genetics Center in Germany.
ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)
View the complete list with 70 more genes
ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, ACTA1, MYH2, MTM1, BICD2, DYNC1H1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, COLQ, GFPT1, CHRNA1, CHRND, CHRNB1, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, HNRNPU, LAMP2, HINT1, LIMS2, TNPO3, TOR1AIP1, GMPPB, HADH, STIM1
Specificity
2 %
Genes
100 %
|
Severe combined immunodeficiency (SCID) panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
AK2, ADA, IL2RG, PNP, DCLRE1C, TBX1, DOCK8, JAK3, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B , (...)
View the complete list with 7 more genes
AK2, ADA, IL2RG, PNP, DCLRE1C, TBX1, DOCK8, JAK3, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, PRKDC, IL2RA, CD3G, CORO1A, CD8A
Specificity
4 %
Genes
100 %
|
B-positive SCID panel.
By Centogene AG - the Rare Disease Company in Germany.
IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
7 %
Genes
100 %
|
Comprehensive SCID panel.
By Centogene AG - the Rare Disease Company in Germany.
AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC , (...)
View the complete list with 3 more genes
AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
5 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
Congenital and Distal Myopathies Panel.
By CeGaT GmbH in Germany.
YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)
View the complete list with 53 more genes
YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, PLEC, SIL1, COL6A2, COL6A3, COL6A1, MYH14, LAMP2, FKBP14, ACVR1, DNA2, COL12A1, KLHL41, MYF6, MTMR14, STAC3, SPEG, LMOD3, CASQ1, STIM1, ORAI1, MICU1, HACD1, CHCHD10, VMA21, MSTN, HNRNPA2B1, HNRNPA1
Specificity
2 %
Genes
100 %
|
Combined immunodeficiencies Panel.
By CeGaT GmbH in Germany.
TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)
View the complete list with 40 more genes
TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, ITK, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, PIK3CD, LRBA, CD27, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TTC7A, CR2, PRKDC, CARD11, ACP5, IL21R, MALT1, MBL2, CD3G, CORO1A, CD8A, CD247, LCK, IKBKB, RHOH, TNFRSF4, TRAC, TAP2, TAPBP
Specificity
2 %
Genes
100 %
|
Invitae Comprehensive Neuromuscular Disorders Panel.
By Invitae in United States.
GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)
View the complete list with 84 more genes
GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, SMN2, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, KCNJ2, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, LAMP2, FKBP14, MYPN, MYL2, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, STIM1, VMA21
Specificity
1 %
Genes
100 %
|
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.
By Invitae in United States.
TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)
View the complete list with 93 more genes
TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, DNM2, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, MATR3, ATP2A1, BAG3, FHL1, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, TMEM43, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, HCN4, SCN5A, CACNA1C, LAMP2, FKBP14, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, VCL, STIM1
Specificity
1 %
Genes
100 %
|
Invitae Comprehensive Myopathy Panel.
By Invitae in United States.
CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)
View the complete list with 30 more genes
CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, DNAJB6, KCNJ2, COL6A2, COL6A3, COL6A1, FKBP14, MYPN, MYL2, KLHL41, STAC3, LMOD3, STIM1
Specificity
2 %
Genes
100 %
|
Invitae Monogenic Autoimmunity Panel.
By Invitae in United States.
STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)
View the complete list with 53 more genes
STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, FOXP3, BLOC1S6, LYST, DOCK8, IFIH1, ADAR, SH2D1A, NCF2, NCF4, RAB27A, STIM1, TNFRSF13B, AICDA, CD40LG, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, RAC2, STAT5B, ORAI1, PIK3CD, LRBA, NFKBIA, FADD, CD27, RFX5, RFXANK, RFXAP, NFKB2, CTLA4, IL10RA, PIK3R1, TPP2, CR2, ICOS, IL10RB, TNFRSF13C, ADA2, PRKCD, TMEM173, IL2RA, IL10, ACP5, PLCG2, IL21, IL21R, ITCH, TNFSF12, NFAT5
Specificity
2 %
Genes
100 %
|
Invitae Monogenic Inflammatory Bowel Disease Panel.
By Invitae in United States.
STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)
View the complete list with 26 more genes
STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1, AICDA, CD40LG, RAG2, RAG1, ZAP70, XIAP, STXBP2, G6PC3, LIG4, PIK3CD, LRBA, CTLA4, IL10RA, NLRC4, TTC7A, PIK3R1, ICOS, IL10RB, IL2RA, IL10, PLCG2, ITGB2, IL21, CD3G, ADAM17, NFAT5
Specificity
3 %
Genes
100 %
|
Invitae Primary Immunodeficiency Panel.
By Invitae in United States.
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 187 more genes
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, 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, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7
Specificity
1 %
Genes
100 %
|
Invitae Syndromic Combined Immunodeficiency (CID) Panel.
By Invitae in United States.
PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)
View the complete list with 17 more genes
PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10, STIM1, POLE, STAT5B, ORAI1, FOXN1, NFKBIA, WIPF1, EPG5, SMARCAL1, TTC7A, ACD, PGM3, DNMT3B, SPINK5, ZBTB24, SP110, DCLRE1B
Specificity
3 %
Genes
100 %
|
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
IL2RG, PNP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
8 %
Genes
100 %
|
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ADA, IL2RG, PNP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1 , (...)
View the complete list with 1 more genes
ADA, IL2RG, PNP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
5 %
Genes
100 %
|
STIM1.
By Fulgent Genetics Fulgent Genetics in United States.
STIM1
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 %
|
Severe Combined Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)
View the complete list with 59 more genes
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A, JAK3, STIM1, CD40, CD40LG, IFNGR1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, ITK, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, PIK3CD, LRBA, CD27, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, EPG5, SMARCAL1, PRKDC, TYK2, PGM3, CARD11, IL2RA, DNMT3B, SPINK5, ITGB2, MALT1, CD3G, CORO1A, STAT2, CD8A, CD247, IRF8, LCK, IKBKB, SP110, RHOH, TNFRSF4, TAP2, TAPBP, MAP3K14, NSMCE3, MSN, LAT, POLE2, TFRC, BCL11B
Specificity
2 %
Genes
100 %
|
Congenital Myasthenic Syndromes Panel.
By Blueprint Genetics in Finland.
CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, LAMB2, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, CHRNG, STIM1, FLAD1
Specificity
6 %
Genes
100 %
|
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
STAT1, AK2, ADA, IL2RG, RMRP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, PTPRC, ORAI1, FOXN1, PRKDC, CARD11, CORO1A , (...)
View the complete list with 2 more genes
STAT1, AK2, ADA, IL2RG, RMRP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, PTPRC, ORAI1, FOXN1, PRKDC, CARD11, CORO1A, CD247, IKBKB
Specificity
5 %
Genes
100 %
|
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes.
By Reference Laboratory Genetics in Spain.
AK2, ADA, IL2RG, PNP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
6 %
Genes
100 %
|