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Panel Name, Specifity and genes Tested/covered |
Hypercholesterolemia, familial (NGS panel for 15 genes).
By CGC Genetics (Portugal).
ABCG5, ABCG8, APTX, PPP1R17, LDLRAP1, PCSK9, EPHX2, GHR, ITIH4, LDLR, LIPA, LRP6
Specificity
9 %
Genes
100 %
|
Oligodontia - Selective tooth agenesis Comprehensive panel.
By Connective Tissue Gene Tests (United States).
WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
|
Oligodontia - Selective tooth agenesis NGS panel.
By Connective Tissue Gene Tests (United States).
WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
|
Oligodontia - Selective tooth agenesis Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
|
Inherited Cardiovascular Diseases and Sudden Death Panel.
By Health in Code (Spain).
MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ , (...)
View the complete list with 191 more genes
MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, KLF10, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, ACTA1, ACTA2, MYOZ2, SLC2A10, GFM1, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, MRPS22, CRELD1, CAPN3, CASQ2, CAV1, CAV3, CBL, SHOC2, CBS, LDB3, ANKRD1, BSCL2, TRIM63, MYLK2, ACTN2, LIAS, SLMAP, HCN4, NEBL, APOA5, ACVRL1, RANGRF, TRPM4, FKRP, TXNRD2, CETP, ATPAF2, MTO1, ADAMTSL4, PCSK9, SPRED1, CALR3, SCN3B, PDLIM3, AARS2, MIB1, ACAD9, AGK, COL1A2, COL3A1, COL5A1, COL5A2, COX15, COX6B1, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, CTF1, CTNNA3, COQ2, TMEM70, FHOD3, RBM20, DES, TMEM43, GPD1L, DLD, OBSL1, DMD, NEXN, GNPTAB, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, AGL, AGPAT2, ELN, EMD, ENG, CAVIN4, EYA4, FAH, FBN1, FBN2, FKTN, FHL1, FHL2, FLNA, FLNC, AKAP9, FOXD4, GAA, GATA4, GATA6, GDF2, GJA1, GJA5, ALMS1, GLA, GLB1, GUSB, HFE, ANK2, ANK3, HRAS, ABCC9, APOC3, JAG1, JUP, KCNA5, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDLR, LMNA, LRP6, SMAD1, SMAD3, SMAD4, SMAD9, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, NOTCH3, NPPA, NRAS, PDHA1, ACADM, PHKA1, PITX2, PKP2, PLN, PLOD1, PMM2, ACADVL, PRKAG2, BAG3, PRKG1, PSEN1, PSEN2, PTPN11, RAF1
Specificity
1 %
Genes
100 %
|
Cardiovascular Diseases_General Panel.
By Health in Code (Spain).
RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)
View the complete list with 351 more genes
RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLCO1B1, SLC22A5, BRAF, SLC22A8, SLC25A3, SLC25A4, SLC2A2, SNTA1, SOS1, SOS2, SURF1, TAZ, TBX1, TBX20, TBX5, TCAP, HNF1A, HNF1B, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, KLF10, KLF11, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, WFS1, XK, ZIC3, ZMPSTE24, ACTA1, ACTA2, MYOZ2, SLC2A10, GFM1, NEUROG3, ABCG5, ABCG8, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, LMF1, ELAC2, JPH2, ACTC1, IRX3, CALM1, CALM2, KCNK17, CALM3, MRPS22, CRELD1, PCDH15, CAPN3, CASQ2, CAV1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, GATA5, ANKRD1, BSCL2, SALL4, TRIM63, MYLK2, ACTN2, LIAS, SCARB1, SLMAP, MRPL44, ZFPM2, NOS1AP, HCN4, TRIB1, SPEG, NEBL, TOPBP1, TAB2, SYNE2, SYNE1, ACVR1, APOA5, ACVR2B, ACVRL1, PERP, GREM2, RANGRF, TRPM4, FKRP, COA6, TXNRD2, CFC1, ZDHHC9, CEL, IER3IP1, FKBP14, LDLRAP1, CETP, ATPAF2, PPP1R13L, CH25H, NPHP4, TBC1D4, MTO1, CHRM2, TNNI3K, EIF2AK4, ADAMTSL4, CITED2, PCSK9, SPRED1, CALR3, UPF3B, INSIG2, CHD7, SCN3B, PDLIM3, SLC39A13, BMP10, AARS2, MIB1, MYLIP, RFX6, ACAD9, ADAMTS2, AGK, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COX15, COX6B1, MED13L, MYPN, CPT2, A2ML1, DOLK, CREBBP, PTF1A, CRYAB, CIDEC, CHST14, KANSL1, EHMT1, CSRP3, NKX2-5, GPIHBP1, CTNNA3, CTNNB1, COQ2, MCTP2, TMEM70, FHOD3, CYP2D6, CYP3A4, CYP3A5, FOXRED1, ANO5, RBM20, DES, TMEM43, GLIS3, GPD1L, DLD, OBSL1, DMD, TOR1AIP1, NEXN, GNPTAB, MFAP5, SLC25A40, DNM1L, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, PNPLA2, LEFTY2, AGL, EFEMP2, AGPAT2, EIF2AK3, NKX2-6, ELN, EMD, ENG, EP300, CAVIN4, COA5, EVC, EYA4, FAH, FBN1, FBN2, FKTN, FGF12, FHL1, FHL2, FLNA, FLNC, AKAP9, FOXC1, FOXD4, FOXF1, FOXH1, FOXP1, AKT2, FXN, ABCB1, GAA, GATA4, GATA6, GCK, GDF1, GDF2, GJA1, GJA5, ALMS1, GLA, GLB1, GPD1, AMPD1, GUSB, HAND2, HFE, ANGPTL3, ANK2, ANK3, HNF4A, HRAS, IDH2, ABCC9, ILK, INS, APOC2, INSR, APOC3, FOXP3, PDX1, IRX4, APOE, ISL1, JAG1, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LCAT, LDLR, LEP, LIPA, LIPC, LMNA, LRP6, LZTR1, SMAD1, SMAD3, SMAD4, SMAD6, SMAD9, MAP2K1, MAP2K2, MEF2A, KMT2D, MLYCD, ABCG1, MTTP, MYBPC3, MYH11, ASPH, MYH6, MYH7, MYL2, MYL3, MYLK, MYOM1, NEUROD1, NF1, ZFHX3, NNT, NODAL, NOTCH1, NOTCH2, NOTCH3, NPC1L1, NPPA, NRAS, OPA3, ATP5F1E, PAX4, ATP7A, PDGFRA, PDHA1, PHKA1, PITX2, PKP2, PKP4, PLIN1, PLN, PLOD1, PMM2, ACADVL, B3GAT3, PPARG, B4GALT7, PRKAG2, BAG3, PRKG1, PSEN1, PSEN2, PTPN11, CAVIN1, PYGM, RAF1, RASA1, RASA2
Specificity
1 %
Genes
100 %
|
Dyslipidemias / Early atherosclerosis.
By Health in Code (Spain).
RYR1, SAR1B, BLK, SLCO1B1, SLC22A8, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, ZMPSTE24, NEUROG3, ABCG5, ABCG8, LMF1, PCDH15, CAV1, BSCL2, SCARB1, TRIB1 , (...)
View the complete list with 57 more genes
RYR1, SAR1B, BLK, SLCO1B1, SLC22A8, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, ZMPSTE24, NEUROG3, ABCG5, ABCG8, LMF1, PCDH15, CAV1, BSCL2, SCARB1, TRIB1, APOA5, CEL, IER3IP1, LDLRAP1, CETP, CH25H, TBC1D4, PCSK9, INSIG2, MYLIP, RFX6, CPT2, PTF1A, CIDEC, GPIHBP1, COQ2, CYP2D6, CYP3A4, CYP3A5, GLIS3, SLC25A40, PNPLA2, AGPAT2, EIF2AK3, AKT2, ABCB1, GATA6, GCK, GPD1, AMPD1, ANGPTL3, HNF4A, INS, APOC2, INSR, APOC3, FOXP3, PDX1, APOE, KCNJ11, LCAT, LDLR, LEP, LIPA, LIPC, LMNA, LRP6, MEF2A, ABCG1, MTTP, NEUROD1, NPC1L1, PAX4, PLIN1, PPARG, CAVIN1, PYGM
Specificity
2 %
Genes
100 %
|
qGenEx Craniofacial Anomalies.
By Quantitative Genomic Medicine Laboratories, SL (Spain).
RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...)
View the complete list with 114 more genes
RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, MED12, TWIST1, UBB, SUMO1, KDM6A, VAX1, ZIC2, IFT122, WNT10A, NSD1, RAB23, EDARADD, ZEB2, ALX1, SALL4, TP63, CDON, CDC45, KAT6B, PORCN, CDSN, WDR19, EIF4A3, NAA10, ADAMTSL4, DISP1, POLR1C, SMOC2, POLR1D, CHD7, BCOR, ANKRD11, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, SMC3, FAM83H, CTSK, OFD1, GRHL3, ODAPH, WDR72, DHODH, NIPBL, EDAR, SPECC1L, KDM1A, DLX3, DLX4, WDR35, IFT43, DSPP, EFTUD2, EDA, EFNB1, MEGF8, ENAM, ERF, EYA1, EZH2, FGD1, FGF10, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FOXC1, FOXE1, GDF3, GDF6, GJA1, GJB6, GLI2, GLI3, GNAI3, ALX3, ALX4, AMELX, HOXA2, IKBKG, IL11RA, IRF6, KLK4, LRP2, LRP6, LTBP3, MASP1, MEOX1, MID1, MITF, KMT2D, MMP20, MSX1, MSX2, NFKBIA, NOG, OTX2, PAX3, PAX6, PAX7, PAX9, PITX2, AXIN2, PLCB4, PTCH1, PTH1R, NECTIN1, RAD21, RECQL4
Specificity
1 %
Genes
100 %
|
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