Panel Name, Specifity and genes Tested/covered |
Natural killer cell and glucocorticoid deficiency with DNA repair defect (sequence analysis of MCM4 gene).
By CGC Genetics (Portugal).
MCM4
Specificity
100 %
Genes
100 %
|
Immunodeficiency with natural killer cell deficiency.
By Centogene AG - the Rare Disease Company (Germany).
MCM4
Specificity
100 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company (Germany).
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)
View the complete list with 487 more genes
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET
Specificity
1 %
Genes
100 %
|
New Born testing (CentoICU).
By Centogene AG - the Rare Disease Company (Germany).
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)
View the complete list with 487 more genes
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET
Specificity
1 %
Genes
100 %
|
Syndromes with immunodeficiency Panel.
By CeGaT GmbH (Germany).
RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR , (...)
View the complete list with 18 more genes
RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR, RNASEH2C, RNASEH2B, RNF168, DKC1, DNMT3B, FCGR3A, FGF10, FGFR2, CFH, NOD2, SP110, RPSA, MCM4, MRE11, NBN, ATM, PDGFRA, PMS2
Specificity
3 %
Genes
100 %
|
Defects in innate immunity Panel.
By CeGaT GmbH (Germany).
STAT1, TBK1, TLR3, TRAF3, TRAF3IP2, UNC93B1, CARD9, IL17F, TIRAP, IRAK4, TMC6, TICAM1, TMC8, CXCR4, IL17RA, APOL1, MCM4, MYD88, NFKBIA
Specificity
6 %
Genes
100 %
|
MCM4.
By Fulgent Genetics Fulgent Genetics (United States).
MCM4
Specificity
100 %
Genes
100 %
|