Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Panel Name, Specifity and genes Tested/covered |
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)
View the complete list with 90 more genes
BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1, VPS35, CNTNAP2, FMN2, CIC, NLGN4X, SHANK3, ARHGEF9, DEAF1, CAPS, SNX14, SETBP1, ADNP, PIDD1, RAB39B, ZBTB11, BRWD3, CDH15, ARID1B, ARX, ELP2, ZDHHC9, NAA10, CHD2, SDK2, SIN3A, USP44, CLCN4, SUMF2, UPF3B, MBD5, ZC3H14, MED13L, TRAPPC6B, KIRREL3, SPATA13, MED23, ABI2, CTNNB1, CUL4B, SETD5, TBC1D23, SLAIN1, PTCHD1, METTL23, DDX3X, MED25, DLG3, IQSEC2, WASHC4, TBC1D24, DMBT1, TET1, DCPS, CRBN, CC2D1A, TUSC3, GATAD2B, TRAPPC9, HUWE1, FBXO47, EXTL3, ACSL4, FGD1, AFF2, FOXG1, GDI1, ADGRG2, GRIA3, GRIN1, GRIN2B, HIVEP2, SYNRG, AP1S2, IL1RAPL1, AFF3, LAMC1, MAGEA11, MAN1B1, MAP3K7, MAPK8, MECP2, MEF2C, MPDZ, MYT1L, NDST1, OPHN1, PAK3, ATRX, PQBP1, PRSS12
Specificity
1 %
Genes
100 %
|
EXTL3.
By Fulgent Genetics Fulgent Genetics (United States).
EXTL3
Specificity
100 %
Genes
100 %
|
Primary Immunodeficiency Panel.
By Blueprint Genetics (Finland).
RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)
View the complete list with 253 more genes
RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TNFAIP3, TNFRSF1A, TNFRSF4, CD40, FAS, CD27, CD40LG, FASLG, CD70, TREX1, SERPING1, ACP5, C1QA, C1QB, TYK2, C1QC, C1S, C2, UNG, USP18, WAS, WIPF1, WDR1, FOXN1, ZAP70, IKZF1, C3, ACTB, AICDA, BCL11B, TRAF3IP2, SAMD9, UNC93B1, SAMD9L, BACH2, BLNK, MRTFA, NLRP1, NHP2, NOP10, LPIN2, VPS45, CDCA7, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, RNF31, CD19, CARD9, CARD11, NLRP3, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, CD59, HAX1, HYOU1, CD79A, CD79B, CD81, CD8A, NCSTN, COLEC11, TRNT1, LRBA, DCLRE1B, DCLRE1C, IRAK4, TMC6, TNFRSF13B, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, CFTR, IFIH1, LAT, DDX58, DOCK8, SBDS, ADAM17, LYST, TTC7A, SLC35C1, CLCN7, TMC8, CHD7, ZBTB24, IRF2BP2, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF2RB, CSF3R, G6PC3, MOGS, CTLA4, ACD, OTULIN, CTPS1, CTSC, WRAP53, CXCR4, OFD1, RNASEH2B, NHEJ1, CYBA, CYBB, USB1, ORAI1, CTC1, CD55, RNF168, ERCC6L2, JAGN1, DNAJC21, CARMIL2, CFD, TMEM173, DGKE, MAGT1, DKC1, GINS1, EPG5, DNMT3B, LAMTOR2, DOCK2, PSENEN, SLC46A1, CLPB, ELANE, RNU4ATAC, EXTL3, FADD, AIRE, AK2, ISG15, G6PD, SLC37A4, GATA2, GFI1, TAP1, TAP2, HELLS, CFH, NOD2, ICOS, IRF8, CFI, SP110, IFNAR2, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, ITGB2, ITK, JAK1, JAK3, KRAS, RPSA, LCK, LIG4, MALT1, MAP3K14, RHOH, MASP1, CD46, MEFV, ARPC1B, CIITA, MRE11, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NSMCE3, NFKB1, NFKB2, NFKBIA, PNP, ATM, NRAS, PARN, PEPD, CFP, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, BCL10, RECQL4, RFX5, RFXANK, RFXAP
Specificity
1 %
Genes
100 %
|
Comprehensive Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics (Finland).
RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6 , (...)
View the complete list with 223 more genes
RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ADAMTSL2, SNX10, CASR, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, STAMBP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, FAM83H, CTSK, TMEM38B, TTC21B, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, EOGT, DHCR24, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GJA1, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HOXA13, HOXD13, HSPG2, IDS, RBPJ, IHH, INPPL1, KIF22, MAFB, LBR, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, SMAD3, SMAD4, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, AIFM1, PDE4D, SERPINF1, PEX7, PGM3, PHEX, PIK3CA, PLOD2, PLS3, POR, B3GAT3, PPIB, B4GALT7, PRKAR1A, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PYCR1, RAD21, RECQL4
Specificity
1 %
Genes
100 %
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics (Finland).
RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...)
View the complete list with 284 more genes
RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A, SOS1, SOX2, SOX3, SOX9, SPARC, STAT5B, TBX15, TBX19, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, XRCC4, ACTB, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ACTG1, ADAMTSL2, SNX10, CASR, CBL, SHOC2, MBTPS2, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, IFITM5, STAMBP, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, CENPJ, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, RTTN, CREB3L1, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, POC1A, TCTN3, CDT1, SMC3, FAM111A, FAM83H, LARP7, CTSK, CCDC8, TMEM38B, TTC21B, CEP63, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, CCNQ, EOGT, DHCR24, DHCR7, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, CEP152, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGD1, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GH1, GHR, GHRHR, GJA1, GLI2, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS, IGF1, IGF1R, IGFALS, RBPJ, IHH, INPPL1, INSR, KIF22, KRAS, MAFB, LBR, LHX3, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, LZTR1, SMAD3, SMAD4, MAP2K1, MAP2K2, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, TRIM37, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, NRAS, ORC1, ORC4, OTX2, PAPSS2, PCYT1A, AIFM1, PDE4D, ATR, SERPINF1, PEX14, PEX7, PGM3, PHEX, PIK3CA, PITX2, PLOD2, PLS3, POR, POU1F1, B3GAT3, PPIB, B4GALT7, PRKAR1A, PROP1, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PEX19, PYCR1, RAD21, RAF1, RASA2, RBBP8, RECQL4
Specificity
1 %
Genes
100 %
|
You can check the following sources for additional information.