Panel Name, Specifity and genes Tested/covered |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
75 %
|
Fibrosis of extraocular muscles, congenital 2 (sequence analysis of PHOX2A gene).
By CGC Genetics in Portugal.
PHOX2A
Specificity
100 %
Genes
25 %
|
PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles.
By Exeter Molecular Genetics Laboratory in United Kingdom.
PHOX2A
Specificity
100 %
Genes
25 %
|
Congenital Central Hypoventilation Syndrome (CCHS) via PHOX2A Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PHOX2A
Specificity
100 %
Genes
25 %
|
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
RET, PHOX2A, PHOX2B, EDN3, BDNF, ASCL1, BMP2
Specificity
15 %
Genes
25 %
|
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TUBB3, PHOX2A, KIF21A, TUBB2B, HOXB1, HOXA1, ECEL1, SALL4, ROBO3, CHN1
Specificity
40 %
Genes
100 %
|
Eye Diseases - panels.
By MGZ Medical Genetics Center in Germany.
C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)
View the complete list with 147 more genes
C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, NHS, SHH, MFN2, CRYAB, OPA3, FBN1, MTPAP, FYCO1, TMEM126A, PHOX2A, GJA3, STRA6, FRMD7, HCCS, BCOR, CBS, GALK1, CYP27A1, SIX6, CYP4V2, SOX2, HESX1, MYOC, KIF21A, FZD4, COL5A1, COL5A2, KRT3, PAX2, GSN, CHD7, GLA, ADAMTS2, SLC33A1, SIL1, COL4A1, RAB3GAP1, SIX3, TUBB2B, TREX1, VPS13B, ACTB, ACTG1, COL9A1, COL9A3, ERCC2, COL9A2, COL11A1, COL11A2, SLC4A11, MYH9, TFAP2A, TGIF1, ZIC2, PRDM5, ZNF469, GDF6, SLC24A5, LRMDA, CHST6, MAF, FOXE3, LTBP2, ERCC6, RAB3GAP2, CTDP1, GJA1, FTL, RAB18, RARB, VAX1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3, B3GLCT, COL17A1, EPG5, TBC1D20, GRIP1, FREM2, FRAS1, LRP2, C12orf57, COL18A1, ERCC5, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, ADAMTSL4, FAM126A, ADAMTS10, COL4A2, ASPH, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, ATOH7, ERCC1, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, MAB21L2, SMOC1, SLC38A8, MIR184, HMX1, BMP7, AGBL1, ADAMTS17, JAM3, NDUFB11, TMEM114, SALL2, SIPA1L3, TMEM98, OVOL2
Specificity
3 %
Genes
100 %
|
Fibrosis of extraocular muscles, congenital type II.
By Centogene AG - the Rare Disease Company in Germany.
PHOX2A
Specificity
100 %
Genes
25 %
|
Central hypoventilation syndrome, congenital.
By Centogene AG - the Rare Disease Company in Germany.
PHOX2A
Specificity
100 %
Genes
25 %
|
PHOX2A.
By Fulgent Genetics Fulgent Genetics in United States.
PHOX2A
Specificity
100 %
Genes
25 %
|
Neuro-Ophthalmology Panel.
By Blueprint Genetics in Finland.
TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)
View the complete list with 18 more genes
TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A, FRMD7, TIMM8A, NDUFS1, APTX, SOX2, HESX1, KIF21A, SETX, NR2F1, PRPS1, SALL4, SLC25A46, RTN4IP1, ANTXR1, ROBO3, CHN1, SLC38A8, FDXR
Specificity
8 %
Genes
75 %
|
FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 2 (CFEOM2).
By Laboratorio de Genetica Clinica SL in Spain.
PHOX2A
Specificity
100 %
Genes
25 %
|
Congenital Extraocular Muscles Fibrosis Type 2 , Sequencing PHOX2A Gene.
By Reference Laboratory Genetics in Spain.
PHOX2A
Specificity
100 %
Genes
25 %
|
Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes.
By Reference Laboratory Genetics in Spain.
TUBB3, PHOX2A, KIF21A, COL25A1
Specificity
75 %
Genes
75 %
|
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.
By Reference Laboratory Genetics in Spain.
TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)
View the complete list with 75 more genes
TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, CACNA1H, KCNH2, SCN1B, HCN1, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, NOTCH1, TRPM4, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, TP63, KCNA5, ACTC1, MYLK2, TGFB3, LAMA4, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, DPP6, GJA1, SLC6A4, NUP155, NPPA, GJA5, CACNA1G, CTNNA3, ECE1
Specificity
2 %
Genes
25 %
|
Tempus xO assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)
View the complete list with 1693 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG, LRP5, COL3A1, STAT1, WT1, PAX6, TGFB1, TLR4, RB1, PSEN1, SDHAF2, HNF1B, RET, MC1R, CASP8, COMT, SHH, DSP, KIF1B, SDHC, RAF1, FH, FBN1, GOT1, PRPF6, MERTK, IDH2, SDHB, HAX1, CTSD, PHOX2A, MAOA, AMER1, BCOR, PRKN, PPP2R1B, SOX2, CYP17A1, NCOA4, ZFHX3, TMEM127, STAT3, MEN1, PAX2, PLA2G2A, PHB, TEAD1, MAK, SDHA, IL2RG, TSHR, FGFR3, AR, ARX, ELP1, FANCC, BLM, BRAF, CHD7, CREBBP, FOXG1, GLA, HRAS, KRAS, LDLR, LEPR, MAP2K1, NRAS, PTPN11, RUNX2, SHOC2, SOS1, TINF2, VDR, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, G6PD, UGT1A1, MPL, WAS, BTK, PKHD1, DPYD, NDRG1, EGR2, DNM2, LMNA, NTRK1, WNK1, PSEN2, NOTCH3, PPP2R2B, TBP, NF1, LRRK2, NR0B1, FGFR1, LHCGR, GNRHR, FGF8, HSD11B2, CYP21A2, GHR, FGF23, MYH7, PDK1, CACNA1S, RYR1, FUS, MYBPC3, SYNE1, TMEM43, SMCHD1, MUSK, FGF14, MCPH1, KCNH2, CHD2, GRIN2A, SCN5A, KMT2D, MAGI2, SETD2, TBL1XR1, TCF4, ATRX, PHF6, PAK3, KDM5C, CUL4B, SETBP1, ZEB2, HGF, ERCC2, ERCC3, DIAPH1, DNMT1, PAX3, SOX10, KCNQ1, PTPRQ, CDC14A, FGF3, GATA3, ROR1, DIAPH3, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, ARID1B, CTNNB1, LZTR1, FAT4, KAT6B, GATA1, RPL5, RASA1, FOXP3, PHF8, AFF2, FANCB, DKC1, USP9X, RBM10, BRWD3, TAF1, SOX3, KLF8, ZMYM3, CDK16, RAB23, POR, TWIST1, SOX9, SPRED1, MTOR, ABCB1, GLI2, ATR, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, PRDM5, ACVR1, DNMT3A, NFIX, EZH2, GLI3, CACNB2, PKP2, MITF, RYR2, KCNJ5, AKAP9, TP63, KDM6A, TFG, CTNNA1, CDH3, MAF, TERC, BMPR1B, TERT, SMAD9, CSF2RA, CSF2RB, NKX2-1, ACTC1, PRDM16, NKX2-5, TNNI3, PRKAG2, DSG2, JUP, TPM1, TNNT2, DSC2, MYL2, MYL3, NEK2, NEK9, RIPK4, ERBB3, ARID2, SMARCE1, HELLS, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, NT5C2, VEGFC, TEK, FLT4, SH2D1A, FGF10, PRSS1, WNK3, MBD3, MBD1, ACE, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, DBH, NHP2, NOP10, GNAS, NR3C2, WNT1, CREB3L1, SMAD2, NOD2, KITLG, FANCA, FANCG, FANCF, FANCE, CYP2C19, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, STK3, SLC6A4, BDNF, VEGFA, ERCC4, THPO, USB1, NEK8, GLIS2, PIK3CA, MYCN, IL11RA, CSF1R, HMGCR, DRD2, SLC6A3, ACVR2B, APOA1, PCSK9, APOB, POLD1, GREM1, ABCG1, ABCA1, AKT2, PAX4, BLK, GLIS3, GATA6, GGCX, GNAQ, TBXAS1, HOXA11, GFI1B, RARB, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, CD40LG, IL7R, ZAP70, ABRAXAS1, POLE, AXIN2, GNA11, INSR, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ELANE, XIAP, FASLG, ITK, G6PC3, GFI1, RAC2, STAT5B, PTPRC, BCR, PIK3CD, NFKBIA, FADD, AIP, CIITA, IL12RB1, STK4, NFKB2, ABCC2, CTLA4, IL10RA, VKORC1, PIK3R1, ICOS, IL10RB, PRKDC, TYK2, NOTCH2, EPOR, TRAF3, POT1, CARD11, SAMD9, PRMT7, NTRK2, WNT5A, NFIA, IL2RA, NKX2-2, MNX1, ZBTB20, ZNF423, CCND2, ESCO2, HOXA13, DHH, DNMT3B, ROR2, WNT4, WNT7A, MAP3K1, IRF6, ICK, NEK1, FSHR, MAMLD1, FGF17, CDK5, SRC, RUNX1T1, FLI1, CENPE, CDK6, ZMYND11, SETD5, CLIP1, CTCF, CRBN, ERF, TCF12, CDC6, PLK4, WRN, PLAGL1, ASXL3, PAX8, CYP2R1, CDH7, DICER1, PDGFRB, PDGFB, KMT2B, CAMTA1, ERCC5, FGF12, MAPK10, XPA, PRDM8, RAD51, BUB1B, GALNT12, NSD2, HOXD13, NKX3-2, ALOX12B, CYLD, CTNNA3, FLG, NLRP1, FLT1, KDR, WNT10A, ZNF384, TNFAIP3, NCSTN, LYN, PSENEN, CARD8, HTR1A, PLCG2, GATA5, KDSR, B2M, ASCL1, GDNF, CUL3, WNK4, LIFR, SLCO1B1, SLCO1B3, VAV1, BLNK, CD79A, CD79B, CYP2C9, NGF, HOXD10, HLA-B, KEL, DHFR, HOXB13, DDX3X, KAT6A, GRB10, HOXA3, CDK19, MAP3K3, RBPJ, XPC, HR, FGF9, TMC6, CYP1A2, TMC8, TWIST2, NR3C1, IGF1, CCND1, SLC26A3, BCL2, HDAC4, TBX3, CDK12, PRPF40B, ARID5B, CEBPE, MTAP, DDB2, DUSP22, ABL2, NFKB1, IL21R, SMAD6, MALT1, FBXW11, MLH3, ETV5, IGF1R, WNT10B, MDM2, DDR2, RNF213, CTNNA2, PALLD, EGF, SOX17, MAFB, AURKC, PML, MSH3, DEK, TRAF3IP2, IL17RA, ROBO2, PICALM, WNT3, ERBB2, CBFB, PAX9, ERCC1, RARA, TCF3, PBX1, ZBTB16, TAL1, AFF3, CYP3A4, NUP214, ADRB2, MN1, NAT2, MLLT3, EPHA2, MLLT1, CDKN2B, PTPRF, FGF20, PTCH2, YWHAE, SMO, LRP6, BCL6, MYC, BIRC3, RPN1, MECOM, CKS1B, CDKN2C, IGF2R, IHH, HOXC13, OSMR, DCC, RNF43, DVL1, TBX18, CYP2A6, CYP4F2, RXRA, GPC5, TNK2, FAT1, NUP93, PRRX1, MAP3K8, MAD2L2, CD70, CHD1L, PRDM12, NONO, NRTN, PRDM13, AXL, KDM1A, SMARCD2, BCL11A, PRLR, CBX2, BRDT, CHD4, TET1, MAPK8, CIC, MAP3K7, TRIO, ASH1L, KMT5B, KAT2B, HDAC6, PPP2R1A, JMJD1C, ERBB4, NKX2-6, TBX22, EED, DVL3, CTNND1, TRAF3IP1, KDM6B, CNKSR1, KDM5A, SETD1A, PARP1, NRIP1, EIF1AX, RICTOR, RAC1, PRKD1, MXD1, DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1, CYP3A5, BCL10, KLF6, ADAM17, PHIP, CYP2B6, CDK11A, YAP1, XBP1, TLR5, LCK, IKBKB, ARNT2, INHBA, MLF1, CRLF2, ABI1, EGR1, PTPRT, MYBL2, SLC19A1, ADRB1, AXIN1, UBR5, ELP3, EWSR1, TAF15, PRKAR1B, DRD1, FGF16, SP110, RHOH, PAX1, CHD1, RBMXL2, PRDM9, ESR2, SMAD1, PERP, PPARA, TRIB1, EPHB4, SOX1, SEM1, PAX7, IL17RC, MAP3K14, DOCK2, SPRY2, CRK, GAB2, MAPK1, PIK3CB, CRKL, PIK3CG, TRAF6, FOXA2, FOXA1, FOLH1, RBM15, TBL1X, HTR2A, HSD3B1, BAX, PAK5, ABCG2, CHUK, CD44, CSNK1D, CREB1, FKBP5, GLCCI1, IL23R, IL4R, IRS2, HMGA1, IRF4, IRS1, HMGA2, PGR, IRF5, IL6R, MIPOL1, SMAD7, TLR2, TLR1, DIAPH2, EPHB2, ZNF750, ALOX5, MAD1L1, PRKACA, NR4A2, POU6F2, PPM1D, TCF7L2, SSTR5, RAD54L, RAD54B, PTGIS, GRB7, GRM3, GRK5, GRM8, GSK3B, GRK4, GPS2, GRB2, MYOD1, CBFA2T2, CBX8, NAB2, MYBL1, CDC20, NEK10, NFKBIE, CCNE2, NEK3, CDC25A, NOTCH2NLA, CDC25B, CDH2, NPR1, NCK2, NOTCH4, NFKBID, NCOA3, CDK9, CDK17, CDC25C, CDX2, CD80, CBX5, NFATC4, CD28, CES2, CDK14, CBX6, CCNB3, CCNL1, CDK2, CDK7, NEK5, CDH5, CEBPZ, CDH11, CDK20, CBX4, MYB, NKX2-3, NCK1, CDKN3, NQO1, NFATC1, CECR2, CDK3, CD22, CD1D, NKX3-1, NFIB, NEK7, NEK6, CDH20, CDKN1A, CDK10, CCND3, NEK4, CDK8, CDC42, NAB1, CDK1, NFATC3, CD276, MTDH, CDH10, CD86, NCOA1, CDK18, NEK11, NPPB, CDK15, CEBPG, CBX1, NCOR1, CD274, NCOA2, NFKBIZ, FLT3LG, FUBP1, GAB1, FRK, FOXO3, FRS3, FOS, FYN, FOSL2, FZR1, GABPA, FRS2, FOXP4, FOXO4, FOXN3, FOXL1, FOXA3, FOXM1, FGF2, ETS1, ETV2, FGF5, FGF18, TENT5C, FAT2, EXTL1, FEN1, FHIT, FER, FES, ETV3, ERG, ESRRA, FGF1, FGF7, EZH1, ETV7, ETS2, FBXO11, EREG, ESCO1, ESPL1, FBXO8, FGF6, ETV3L, FGR, FEV, FAT3, EPHA7, PHF1, ELF3, ELF2, DVL2, E2F3, ELF4, ECT2L, DNMT3L, PDS5B, EPHB3, EPGN, DMXL1, EPHA4, EPHA8, EHMT2, PHF2, EPHA5, EHF, EPHB6, PEG3, DYRK2, ELK3, ELF1, EPHA1, DOT1L, EBF1, E2F7, EPHA3, E2F6, ELF5, ELK4, EPHB1, PDCD1LG2, PDGFD, DCUN1D2, CYP2C8, DAXX, DDIT3, PBRM1, PDCD1, DIRAS3, DDX5, PBX2, PAXIP1, CYP2J2, PCBP1, DIS3, PAK6, PAK4, PARP2, PDGFC, DDR1, PATZ1, DDX6, DCUN1D1, PARP4, PAK1, CRTC2, CTCFL, CREB3L4, CREM, CSK, CTSS, COPS3, CSNK1E, CRTC3, CRTC1, CTSL, CSF1, CNTFR, CHD6, NUMB, NUP98, CNOT3, CARD10, NRG3, CHD3, CHIC2, CARD6, MSH4, CADM2, CHD9, NUMBL, CHEK1, NUTM2G, CMPK1, MST1, ODC1, MST1R, CHD5, CAPRIN2, NUTM1, NUTM2F, NR4A1, MAP2K6, MAU2, MAP4K1, MAP3K4, MAP3K15, BRPF1, MAD2L1, BTG2, BRPF3, BRD1, MAP3K5, MRTFB, MED29, MAPK9, BCL7A, MAP4K4, MLST8, BMI1, MAPK4, MAP4, BID, BRD9, BIRC5, MAML2, EMSY, BRD8, MED12L, BRD7, BRWD1, BCLAF1, MAP3K12, MAPK15, MAP3K2, MOS, MAML3, MAP3K19, MCL1, BTC, MAPK7, BIRC2, MRTFA, MOB1A, MAP2K7, BTRC, BRD3, MAP4K5, BCL9, MAP4K3, MAGED1, MAP2K4, MAP3K9, MATK, MAML1, MLLT10, MDM4, MAST2, MAP3K13, BUB1, BPTF, MAP4K2, MAPK6, MAST1, MAP2K3, MINK1, MAP2K5, MLLT11, MOB1B, MGA, BIRC8, MPG, BCL2A1, BABAM1, ARHGAP26, LGR4, ARFRP1, LATS2, ATAD2B, ASH2L, LDB1, ASCL4, ASCL3, BCAR3, LATS1, ATF1, LMO1, AURKB, BCL2L2, ATAD2, BACH1, ARPC1A, LMTK3, ARHGAP35, ASXL2, LMTK2, LMO7, BACH2, BAZ2B, BCL2L11, BAZ2A, ARNT, LSM1, LPP, APH1A, LGR5, LGR6, LEF1, BAZ1A, LRP1B, APEX1, ASPSCR1, LTK, BAG4, BAZ1B, ARPC1B, JARID2, JMJD4, IL20RB, ITPKB, KDM4A, HNRNPA3, HSP90AA1, HSP90AB1, IKZF3, IL22RA1, IL22RA2, ID2, IFNLR1, JMJD6, IQGAP1, IL3, KMT2E, KLF12, KDM3A, IL17RB, INPP4B, IQGAP2, ING1, IL18R1, IKBKE, JAZF1, IL6ST, KDM4B, KDM5B, HOXB3, IL20RA, HOXA9, ING4, JMJD8, MAP3K21, KDM8, IL1R1, JMJD7, HSPBAP1, IRS4, KMT5A, INTS12, HOXC10, KAT7, KDM1B, HOXA10, IRAK1, KDM4C, KLF5, JUN, KAT2A, JAK1, IL12RB2, KDM4D, KDM2B, ID3, KDM3B, KAT8, HOXD4, IL1RAP, KDM7A, IL5RA, IKBIP, KDM2A, IQGAP3, IL1R2, JUNB, ID1, IKZF2, HOXD3, JADE1, AJUBA, IL18RAP, HDAC7, HCK, HDAC11, HIF1A, HDAC2, HIST1H4E, HDAC10, HIST1H1E, GTPBP4, HEY1, HDAC9, HDAC3, HDGF, HBEGF, HDAC1, HIF1AN, HIST1H3B, HEY2, HLTF, PHLPP2, PIK3C3, PRDM1, PIM2, POU5F1, PLK1, PRMT1, PRDM2, PMAIP1, PIM1, POU5F2, PLK3, POU2AF1, PIK3C2A, POU5F1B, PRMT6, PPARD, PPFIA1, PRDM6, PIK3R3, PRSS3, PLAGL2, PRDM7, PRDM11, PPP1R1C, PREX2, POU6F1, PLK2, PRDM14, PRKCI, PNRC1, PIK3C2B, PRMT3, PRCC, PRMT8, PRDM4, PIK3R4, PLCG1, PLAG1, PRDM10, PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1, UHRF2, TYRO3, TRAF3IP3, TRIB3, TNK1, TXK, UBE2D2, TRAF7, TNFRSF17, VAV2, VHLL, TLX2, WAPL, TRAF2, TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH, WNT6, YWHAB, WISP1, ZNF607, TLR10, WNT16, WWTR1, WNT7B, TGFA, WNT8B, WNT5B, ZMYND8, WNT2, TLR8, TLK2, ZC3H7B, ZNF471, ZNF668, WNT2B, NSD3, TLR7, WNT11, ELOC, TBX2, SSX3, SPIC, SRGAP3, STAT4, KMT5C, SMURF2, SULT1A1, SP100, SOX8, SS18, SSX1, TFEC, SPOP, TCF7, SP140, SPRED2, STAT5A, TERF1, SPI1, SP140L, TEAD2, TENM2, SMYD4, TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6, SSTR1, SMAD5, SUV39H1, STAT6, SLC47A2, SSTR3, SMC2, SLC47A1, TAOK3, RSPO2, SKOR1, RIPK3, RYK, SETD9, SETD3, RPA1, RPS6KB2, SLC15A2, REL, SETDB1, ROCK1, SETMAR, REC8, RHOB, RHEB, RSPO3, SAV1, SKP2, SLC22A1, ROCK2, SH3GL1, SLC22A6, SETD4, SHC1, SHC4, SLC22A2, RIPK1, RELA, SF3A1, RNF40, SF1, SGO1, SLC22A3, SETD7, RHOT1, SFRP1, SGO2, SETDB2, RIPK2, RUVBL1, SGK1, SKIL, RPS6KB1, RUNX3, SHB, SETD1B, RAB25, PTK6, PTPRB, PVT1, PRSS8, PTK7, RAD52, RBM14, PTPRJ, RAD51B, PTPRR, PTGS1, PTTG1, PTPRG, PSIP1, RAD51AP1, PTGS2, PTK2, PTK2B, PTPRM, PTPRK, PTPN21, PTPN2, PSPN, RABEP1, PTPRD, PTPN6, ADGRL2, ADGRB3, ADAMTS20, ACVR1B, ACSL6, ACVR2A, AATK, ABCC1, AFF1, AHR, ADGRL3, ADGRA2, BTG1, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, SSX2, NUTM2A, NUTM2B, HLA-A, BCL11B, CDK13, KLF4, H3F3A, BCL2L1, RHOA, HES1, FGF19, NCOR2, SUZ12, SMARCA1, FGF4, MAP3K6, TOP1, AURKA, MEF2B, ZNF703, GID4, MAPK3, TRIM33, WIF1, SFPQ, LYL1, MDS2, RAP1GDS1, LMO2, HOXC11, TAL2, MLLT6, HLF, OLIG2, CBFA2T3, CCDC6, TLX1, HOXD11, MTCP1, NKX2-8, ICOSLG, USP9Y, CES1, PDPK1, POU2F2, YEATS4, TBC1D12, FOXQ1, ZNRF3, PPP6C, RELB, CDX1, E2F5, TRIM24, SMYD2, HDGFL3, MAPK12, EPHA6, SMARCD1, VEGFD, ASCL5, GFRA4, PRRX2, KDM5D, PBX3, BMX, MAPK11, VGLL2, FGF21, CKS2, JUND, CDK11B, TRIM28, CHIC1, TEF, WNT9A, UTY, CUL4A, SMARCC1, SOX21, NRG2, GLIS1, CASC11, WASL, KHSRP, PAK2, MAP3K11, PDGFA, MAP3K10, PIM3, SETD6, MAPK14, ASCL2, HES2, NKX2-4, BTG3, DACH2, PDS5A, CBX3, NRG4, MAPK13, IL3RA, ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1, ID4, FGF22, ZNF444, FKBP9, HDAC5, IL2RB, TCL1B, IL9R, NFIC, CEBPD, HES4, IL13RA1, SHC3, CBX7, BUB3, INSRR, WNK2, ARTN, SSTR4, PHLPP1, GUCY1A2, FOSB, SMURF1, BBC3, SRMS, PGF, NFKBIB, FGF13, KAT5, PBX4, PRKACB, AREG, CEBPB, E2F1, PRDM15
Specificity
1 %
Genes
25 %
|
KIF21A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
KIF21A
Specificity
100 %
Genes
25 %
|
KIF21A. Sequencing of the exons 2, 8, 20 and 21.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
KIF21A
Specificity
100 %
Genes
25 %
|
Fibrosis of extraocular muscles, congenital type 1 (sequence analysis of KIF21A gene).
By CGC Genetics in Portugal.
KIF21A
Specificity
100 %
Genes
25 %
|
KIF21A-Related Congenital Fibrosis of the Extraocular Muscles.
By Exeter Molecular Genetics Laboratory in United Kingdom.
KIF21A
Specificity
100 %
Genes
25 %
|
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center in Germany.
MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)
View the complete list with 577 more genes
MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, MMACHC, PRKCG, APP, PSEN1, TUBB3, SDHAF2, AMACR, HSD17B4, CPS1, CPT2, OPA1, TRMU, WFS1, PSAP, ELOVL4, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, ALAS2, MFN2, SDHC, PANK2, OPA3, VCP, MECP2, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, ALDH18A1, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, KARS, GFER, TMEM126A, SLC25A12, GAMT, SPR, COX4I2, SDHB, STXBP1, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, REEP1, DNAJC19, POLG2, TK2, SLC25A22, GFM1, PDP1, ALG2, GRN, NDUFA13, COQ2, SPG7, PARK7, PCCB, PCCA, PINK1, GLDC, SCO2, GAD1, TYMP, ETHE1, SQSTM1, PUS1, OTC, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, ABCD1, ABHD5, HEXA, ALDH3A2, HEXB, PHYH, ALDH7A1, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, SUCLG1, DLAT, GALC, IVD, SLC25A15, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, ASL, SLC25A38, TPP1, CLN3, KIF21A, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, MGME1, ARSA, ASPA, ARX, GBA, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, ATM, MRE11, SDHD, CHRNE, CLN6, CLN8, DOK7, MTTP, PEX2, PPT1, PEX7, SACS, TH, MLC1, MCOLN1, PEX1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PHGDH, PLA2G6, RAPSN, GDAP1, DNM2, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, NOTCH3, PPP2R2B, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, CASR, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, RYR1, SETX, CHMP2B, TARDBP, UBQLN2, MTM1, BICD2, SYNE1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, ANO10, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, DPM2, CHKB, COL6A3, ATP1A2, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, COL4A1, QARS, RELN, TSEN54, ATP13A2, HNRNPU, SPATA5, EEF1A2, SIK1, SNAP25, SLC13A5, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, RNASEH2A, RNASEH2C, RNASEH2B, ARHGEF9, KDM5C, TREX1, GFAP, VPS13A, CLPP, POLR1C, PNPT1, NLRP3, DNMT1, SOX10, SLC19A2, LARS2, PEX6, NARS2, FUCA1, CACNA1C, CHD8, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, HCFC1, LAMP2, TAF1, SLC16A2, CLCN4, CLCN2, EXOSC3, TUBB2A, MARS, TFG, GAN, LYST, TBK1, NKX2-1, FBXL4, DNA2, HNRNPDL, TOR1AIP1, GMPPB, MYBPC1, ERLIN1, REEP2, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, STAMBP, FDX2, ACTG2, RNASET2, CCT5, GJA1, NBAS, FTL, CP, COASY, DCAF17, MARS2, COX10, SCO1, CSF1R, PRNP, TPK1, FBXO7, EARS2, MR1, SLC6A3, HADH, APOB, ABCA1, EIF2AK3, VPS35, COQ8B, XK, RANBP2, PRKRA, EPG5, SLC25A46, MICU1, HEPACAM, DNAJC3, PREPL, LRP4, ALG14, IBA57, ARL6IP1, GRIK2, KCNH5, XRCC4, AMPD2, SEPSECS, PYCR2, SLC1A4, PDGFB, SERAC1, CLPB, UBA5, ANO3, HPCA, KCTD17, ECHS1, GNAL, ADCY5, SLC30A10, ACY1, AAAS, RARS, ATP8A2, CACNA1G, SLC52A2, GRID2, NOL3, PIK3R5, PTRH2, RNASEH1, RNF216, SLC6A19, STUB1, DGAT2, LMNB1, SLC52A3, COQ4, RUBCN, PMPCA, TRNT1, POLR3A, POLR3B, PRDM8, CHCHD10, APOPT1, SNX14, PSAT1, RETREG1, FAM126A, COL4A2, NOP56, GLRB, GLRA1, SLC6A5, CIZ1, PDE8B, GPHN, TALDO1, UQCRC2, AIMP1, CLP1, EXOSC8, CACNA1B, NPRL3, ATP5F1A, LARS, CAD, CARS2, ATP2B4, NDUFB9, ZFR, WDR48, USP8, ARSI, LYRM7, ISCA2, FLAD1, ARHGEF15, COX8A, GTPBP3, IARS2, COQ7, NDUFB11, MRPL44, MRPS7, PARS2, TRMT5, TARS2, VARS2, RMND1, TRIT1, LONP1, TANGO2, CCDC115, FLRT1, SLC25A42, KCNA4, SLC25A26, GTPBP2, PPT2, PODXL, STAT2, TXN2, VPS11, PTCD1, KLC4, PITRM1
Specificity
1 %
Genes
50 %
|
Muscle Disease with Ptosis / External Ophthalmoplegia.
By MGZ Medical Genetics Center in Germany.
TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)
View the complete list with 6 more genes
TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, PREPL, LRP4, ALG14
Specificity
8 %
Genes
50 %
|
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
2 %
Genes
50 %
|
Fibrosis of extraocular muscles, congenital type 1.
By Centogene AG - the Rare Disease Company in Germany.
KIF21A
Specificity
100 %
Genes
25 %
|
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
75 %
|
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
75 %
|
KIF21A.
By Fulgent Genetics Fulgent Genetics in United States.
KIF21A
Specificity
100 %
Genes
25 %
|
Fibrosis of extraocular muscles, congenital.
By Bioarray in Spain.
KIF21A
Specificity
100 %
Genes
25 %
|
FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 1 (CFEOM1).
By Laboratorio de Genetica Clinica SL in Spain.
KIF21A
Specificity
100 %
Genes
25 %
|
Congenital Extraocular Muscles Fibrosis Types 1 and 3B, Sequencing KIF21A Gene.
By Reference Laboratory Genetics in Spain.
KIF21A
Specificity
100 %
Genes
25 %
|
Hereditary Spastic Paraplegia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)
View the complete list with 59 more genes
C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, BICD2, VAMP1, PQBP1, ATP13A2, WDR45, SAMHD1, RNASEH2B, KDM5C, TREX1, SLC16A2, EXOSC3, MARS, TFG, ERLIN1, REEP2, KIDINS220, CAPN1, HACE1, KLC2, MAG, CPT1C, IFIH1, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27
Specificity
2 %
Genes
25 %
|
Comprehensive Brain Malformation Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)
View the complete list with 86 more genes
UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, NSD1, PTCH1, FKTN, POMGNT1, TMEM216, AHI1, FKRP, FGF8, L1CAM, VRK1, POMT2, POMT1, LARGE1, MCPH1, ASPM, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KIF1BP, OFD1, ATRX, PHF6, OPHN1, CASK, CUL4B, ZEB2, ACTB, ACTG1, MED12, LAMC3, UPF3B, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, PCNT, ATR, NFIX, EZH2, GLI3, RAB3GAP2, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, DLL1, EOMES, GAS1, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, DISP1
Specificity
2 %
Genes
50 %
|
Microcephaly.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
UBE3A, TUBB3, SLC25A19, MECP2, SLC9A6, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, MCPH1, ASPM, CENPJ, RAB3GAP1, STIL, TCF4, ATRX, CASK, ZEB2, CEP152 , (...)
View the complete list with 8 more genes
UBE3A, TUBB3, SLC25A19, MECP2, SLC9A6, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, MCPH1, ASPM, CENPJ, RAB3GAP1, STIL, TCF4, ATRX, CASK, ZEB2, CEP152, CDK5RAP2, PCNT, ATR, RAB3GAP2, RAB18, IER3IP1, RBBP8, MYCN
Specificity
4 %
Genes
25 %
|
Polymicrogyria Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, TUBA1A, WDR62, NDE1, RAB3GAP1, TUBA8, ADGRG1, TUBB2B, KIF1BP, GPSM2, RAB3GAP2, RAB18, OCLN, CCND2, AKT3-IT1, TBC1D20, RTTN
Specificity
12 %
Genes
50 %
|
Cerebral Cortical Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RAB3GAP1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1 , (...)
View the complete list with 6 more genes
TUBB3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RAB3GAP1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1, LAMC3, RAB3GAP2, RAB18, VLDLR, OCLN, RTTN
Specificity
8 %
Genes
50 %
|
Cerebral Cortical Malformation Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)
View the complete list with 34 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1, LAMC3, TUBB2A, GPSM2, POMK, GMPPB, TUBB4A, RAB3GAP2, RAB18, VLDLR, AKT3, OCLN, CCND2, TBC1D20, RTTN, B3GNT2, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, ASNS, SNAP29
Specificity
4 %
Genes
50 %
|
TUBB3 sequencing.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3
Specificity
100 %
Genes
25 %
|
TUBB3 sequencing.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3
Specificity
100 %
Genes
25 %
|
Lissencephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1 , (...)
View the complete list with 16 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, SNAP29, LAMB1
Specificity
6 %
Genes
50 %
|
Polymicrogyria Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, TUBA1A, WDR62, NDE1, RAB3GAP1, TUBA8, ADGRG1, TUBB2B, KIF1BP, GPSM2, RAB3GAP2, RAB18, OCLN, CCND2, AKT3-IT1, TBC1D20, RTTN
Specificity
12 %
Genes
50 %
|
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
12 %
Genes
50 %
|
Comprehensive Lissencephaly Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, DCX, RELN, PAFAH1B1 , (...)
View the complete list with 14 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, DCX, RELN, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, SNAP29, LAMB1
Specificity
6 %
Genes
50 %
|
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
12 %
Genes
50 %
|
Cerebral Cortical Malformations Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)
View the complete list with 34 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1, LAMC3, TUBB2A, GPSM2, POMK, GMPPB, TUBB4A, RAB3GAP2, RAB18, VLDLR, AKT3, OCLN, CCND2, TBC1D20, RTTN, B3GNT2, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, ASNS, SNAP29
Specificity
4 %
Genes
50 %
|
TUBB3.
By Institute for Human Genetics University Clinic Freiburg in Germany.
TUBB3
Specificity
100 %
Genes
25 %
|
Comprehensive Brain Malformations Panel.
By GeneDx in United States.
TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)
View the complete list with 24 more genes
TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, OPHN1, CASK, LAMC3, TSEN34, TSEN2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, VLDLR, OCLN
Specificity
5 %
Genes
50 %
|
Cortical Brain Malformations Panel.
By GeneDx in United States.
TUBB3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B , (...)
View the complete list with 4 more genes
TUBB3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, LAMC3, EOMES, VLDLR, OCLN
Specificity
9 %
Genes
50 %
|
Congenital fibrosis of extraocular muscles (sequence analysis of TUBB3 gene).
By CGC Genetics in Portugal.
TUBB3
Specificity
100 %
Genes
25 %
|
TUBB3-Related Congenital Fibrosis of the Extraocular Muscles.
By Exeter Molecular Genetics Laboratory in United Kingdom.
TUBB3
Specificity
100 %
Genes
25 %
|
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)
View the complete list with 133 more genes
UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, SLC17A5, CLN5, CSTB, SCN1A, CACNA1A, CACNB4, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, ARFGEF2, DCX, QARS, RELN, TUBA8, SRPX2, TUBB2B, CTSF, MFSD8, HNRNPU, SPATA5, EEF1A2, KCNA2, DNM1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, ARHGEF9, SYN1, ATP6AP2, CASK, ZEB2, GFAP, NECAP1, CLCN2, NEDD4L, MTOR, TUBB2A, AARS, SMARCA2, IER3IP1, TUBG1, GNB1, ACY1, PIGG, SCN10A, NPRL3, NPRL2, TNK2, NACC1, CAD, FRRS1L, GRIN2D, HCN2, RORB, SON, PLPBP, SLC1A2, KCNH1, CARS2
Specificity
2 %
Genes
50 %
|
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TUBB3
Specificity
100 %
Genes
25 %
|
Lissencephaly and related disorders NGS test.
By Connective Tissue Gene Tests in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 22 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, TUBB2A, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, SNAP29, LAMB1, TMTC3
Specificity
5 %
Genes
50 %
|
Lissencephaly and related disorders Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 22 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, TUBB2A, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, SNAP29, LAMB1, TMTC3
Specificity
5 %
Genes
50 %
|
Lissencephaly and related disorders Comprehensive test.
By Connective Tissue Gene Tests in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 22 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, TUBB2A, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, SNAP29, LAMB1, TMTC3
Specificity
5 %
Genes
50 %
|
Brain Malformations / Neuronal Migration Disorders.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)
View the complete list with 246 more genes
FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1, HGSNAT, SGSH, GALC, CYP27A1, TPP1, CLN3, FGFR3, ASPA, ARX, ELP1, CDKL5, CHD7, FOXG1, IDS, MEF2C, PCDH19, PORCN, SLC2A1, WDR62, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, CLN6, DOK7, PPT1, MLC1, CLN5, EIF2B5, PHGDH, PLA2G6, EIF2B3, CSTB, SCN1A, NOTCH3, SGCE, FGF8, CASR, L1CAM, FA2H, CACNB4, ASPM, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN1B, SCN2A, SYNJ1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, DEPDC5, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, QARS, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, ATP13A2, SETD2, EEF1A2, NEXMIF, WDR45, SCN8A, NRXN1, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, TREX1, VPS13A, HTRA1, PTCHD1, MID1, MED12, EHMT1, AP1S2, CHD8, ARID1B, NLGN4X, NLGN3, NEU1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, ZMYM3, CLCN4, THOC2, EXOSC3, TUBB2A, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, NFIX, EZH2, RNF135, GLI3, GPSM2, KDM6A, HNRNPDL, MYBPC1, SMARCE1, SMARCA4, SMARCB1, ARID1A, SMARCA2, C19orf12, TUBB4A, ADAR, PGK1, FTL, CP, DCAF17, KIF7, EOMES, PIK3CA, DISP1, GNAQ, PIK3R2, AKT3, AKT1, XK, TDGF1, ADA2, OCLN, KPTN, TBC1D7, HEPACAM, CCND2, TUBG1, TUBB, KIF5C, KIF2A, ZNF674, KCNH5, SEPSECS, NOL3, STUB1, ITM2B, POLR3A, POLR3B, COL4A2, DIS3L2, CLP1, DARS, JAM3, ARHGEF15, HERC2, NXF5
Specificity
1 %
Genes
50 %
|
Polymicrogyria.
By MGZ Medical Genetics Center in Germany.
TUBB3, FH, TUBA1A, CHD7, WDR62, NDE1, TUBA8, ADGRG1, SRPX2, TUBB2B, KIF1BP, NSDHL, GPSM2, EOMES, OCLN, TUBB, KIF5C
Specificity
12 %
Genes
50 %
|
Cortical dysplasia, complex, with other brain malformations.
By Centogene AG - the Rare Disease Company in Germany.
TUBB3
Specificity
100 %
Genes
25 %
|
Fibrosis of extraocular muscles, congenital type 3a.
By Centogene AG - the Rare Disease Company in Germany.
TUBB3
Specificity
100 %
Genes
25 %
|
Neuronal Migration Disorders Panel.
By CeGaT GmbH in Germany.
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)
View the complete list with 30 more genes
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2, DCX, EMX2, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, MED12, LAMC3, FAT4, POMK, GMPPB, RAB3GAP2, EOMES, PIK3CA, RAB18, IER3IP1, VLDLR, PIK3R2, RTTN, TUBG1, KIF5C, KIF2A, SNAP29, DCHS1
Specificity
4 %
Genes
50 %
|
Neuronal Migration Disorders Panel.
By CeGaT GmbH in Germany.
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)
View the complete list with 30 more genes
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2, DCX, EMX2, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, MED12, LAMC3, FAT4, POMK, GMPPB, RAB3GAP2, EOMES, PIK3CA, RAB18, IER3IP1, VLDLR, PIK3R2, RTTN, TUBG1, KIF5C, KIF2A, SNAP29, DCHS1
Specificity
4 %
Genes
50 %
|
Single gene testing TUBB3.
By CeGaT GmbH in Germany.
TUBB3
Specificity
100 %
Genes
25 %
|
Epilepsy.
By Asper Biogene Asper Biogene LLC in Estonia.
UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)
View the complete list with 104 more genes
UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, TSC2, SYNGAP1, TSC1, SLC35A3, CSTB, SCN1A, CACNA1A, KIF1A, DYNC1H1, KCNA1, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, DCX, RELN, FLNA, SRPX2, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, TCF4, SERPINI1, ATRX, IQSEC2, SYP, ARHGEF9, SYN1, ATP6AP2, CASK, CACNA1D, HUWE1, ZDHHC9, NECAP1, MTOR, AARS, SMARCA2, ADAR, KIF5C, FGF12, CERS1, SLC12A5, PIGT, GPHN, ITPA, SNIP1
Specificity
1 %
Genes
25 %
|
Brain malformations.
By Asper Biogene Asper Biogene LLC in Estonia.
TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)
View the complete list with 125 more genes
TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT, ETFB, ETFA, ETFDH, MKS1, PDHX, ARX, CREBBP, DHCR7, WDR62, NBN, FKTN, PEX2, PEX1, POMGNT1, SLC12A6, TMEM216, AHI1, FKRP, WASHC5, DYNC1H1, VRK1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, MCPH1, ASPM, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, PNKP, TCF4, KIF1BP, OFD1, ATRX, OPHN1, CASK, CUL4B, ZEB2, ACTB, ACTG1, LAMC3, TMEM231, FAT4, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, EXOSC3, TSEN34, TSEN2, TUBB2A, CEP152, CDK5RAP2, PCNT, ATR, GPSM2, POMK, GMPPB, PIEZO2, CHMP1A, TUBB4A, RAB3GAP2, AP4M1, KIF11, EFTUD2, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, RAB18, IER3IP1, VLDLR, DHCR24, PIK3R2, AKT3, NHEJ1, TCTN3, OCLN, ZNF423, CCND2, TBC1D20, RTTN, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, SNAP29, LAMB1, CEP135, KNL1, CEP63, AMPD2, SEPSECS, TUBGCP6, CLP1
Specificity
2 %
Genes
50 %
|
Brain Malformations: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)
View the complete list with 30 more genes
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2, DCX, PQBP1, RAB3GAP1, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, OPHN1, CASK, ACTB, ACTG1, LAMC3, EXOSC3, TSEN34, TSEN2, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, VLDLR, RTTN
Specificity
4 %
Genes
50 %
|
Neurology: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)
View the complete list with 144 more genes
UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22, SLC9A6, ALDH7A1, MKS1, TPP1, CLN3, ARX, CDKL5, DHCR7, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, PTCH1, CLN6, CLN8, FKTN, PPT1, POMGNT1, CLN5, TMEM216, CSTB, SCN1A, AHI1, FKRP, FGF8, VRK1, POMT2, POMT1, CACNB4, LARGE1, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, BCKDK, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, KIF1BP, ATRX, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2, ACTB, ACTG1, LAMC3, EHMT1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, GLI2, CDK5RAP2, PCNT, ATR, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, RAB18, RBBP8, MYCN, VLDLR, DISP1, RTTN, ZNF335, CEP135, KNL1, CEP63, NIN, CDC6, CDT1, ORC6, ORC4, POC1A, MAPK10
Specificity
2 %
Genes
50 %
|
Brain Malformations: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)
View the complete list with 30 more genes
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2, DCX, PQBP1, RAB3GAP1, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, OPHN1, CASK, ACTB, ACTG1, LAMC3, EXOSC3, TSEN34, TSEN2, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, VLDLR, RTTN
Specificity
4 %
Genes
50 %
|
Polymicrogyria NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TUBB3, TUBA1A, TUBA8, ADGRG1, SRPX2, TUBB2B, KIF1BP
Specificity
29 %
Genes
50 %
|
TUBB3.
By Fulgent Genetics Fulgent Genetics in United States.
TUBB3
Specificity
100 %
Genes
25 %
|
Polymicrogyria Panel.
By Blueprint Genetics in Finland.
TUBB3, FH, TUBA1A, WDR62, NDE1, TUBA8, ADGRG1, SRPX2, TUBB2B, KIF1BP, LAMC3, NSDHL, TUBB2A, GPSM2, RAB18, AKT3, OCLN
Specificity
12 %
Genes
50 %
|
Neuronal Migration Disorder Panel.
By Blueprint Genetics in Finland.
TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)
View the complete list with 38 more genes
TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2, DCX, EMX2, NDE1, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, ACTB, ACTG1, MED12, LAMC3, FAT4, NSDHL, TUBB2A, FLVCR2, GPSM2, GMPPB, RAB3GAP2, KIF7, PIK3CA, RAB18, VLDLR, PIK3R2, AKT3, OCLN, RTTN, KATNB1, TUBG1, MPDZ, LAMB1, SEPSECS, COL4A2, YWHAE
Specificity
4 %
Genes
50 %
|
FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 3 (CFEOM3).
By Laboratorio de Genetica Clinica SL in Spain.
TUBB3
Specificity
100 %
Genes
25 %
|
Congenital Extraocular Muscles Fibrosis Type 3A , Sequencing TUBB3 Gene.
By Reference Laboratory Genetics in Spain.
TUBB3
Specificity
100 %
Genes
25 %
|
Cortical Dysplasia, Complex, with other Brain Malformations Type 1 , Sequencing TUBB3 Gene.
By Reference Laboratory Genetics in Spain.
TUBB3
Specificity
100 %
Genes
25 %
|
Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes.
By Reference Laboratory Genetics in Spain.
TUBB3, TUBA1A, FIG4, TUBA8, ADGRG1, SRPX2, TUBB2B, PIK3R2, AKT3, OCLN
Specificity
20 %
Genes
50 %
|
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.
By Reference Laboratory Genetics in Spain.
TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8 , (...)
View the complete list with 18 more genes
TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, OPHN1, CASK, ACTB, ACTG1, LAMC3, GPSM2, PIK3CA, VLDLR, PIK3R2, AKT3, OCLN, LAMB1
Specificity
6 %
Genes
50 %
|
Tubulinopathies: gene sequencing panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
TUBB3, TUBA1A, TUBA8, TUBB2B, TUBB2A, TUBG1, TUBB
Specificity
29 %
Genes
50 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc in United States.
PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)
View the complete list with 20 more genes
PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B
Specificity
3 %
Genes
25 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)
View the complete list with 214 more genes
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2, TUBA1A, CTSD, SLC25A22, ALG9, GRN, GLDC, AMT, SLC9A6, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, TPP1, CLN3, WWOX, SLC6A8, FGFR3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SLC2A1, WDR62, TSC2, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, GPC3, CLN6, CLN8, FKTN, PPT1, PEX7, POMGNT1, CLN5, PHGDH, PLA2G6, DPYD, CSTB, SCN1A, NOTCH3, FKRP, CACNA1A, KCNJ11, CASR, DYNC1H1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D1, RBFOX1, CACNA2D2, MAGI2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, 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
Specificity
1 %
Genes
25 %
|
TUBB2B sequencing.
By Genetic Services Laboratory University of Chicago in United States.
TUBB2B
Specificity
100 %
Genes
25 %
|
TUBB2B deletion/duplication analysis.
By Genetic Services Laboratory University of Chicago in United States.
TUBB2B
Specificity
100 %
Genes
25 %
|
TUBB2B.
By Institute for Human Genetics University Clinic Freiburg in Germany.
TUBB2B
Specificity
100 %
Genes
25 %
|
Congenital fibrosis of extraocular muscles (sequence analysis of TUBB2B gene).
By CGC Genetics in Portugal.
TUBB2B
Specificity
100 %
Genes
25 %
|
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).
By CGC Genetics in Portugal.
SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)
View the complete list with 32 more genes
SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CHMP1A, AP4M1, STAMBP, KIF11, EFTUD2, IER3IP1, RBBP8, NHEJ1, LIG4, TUBG1, KIF5C, KIF2A, MED17, ZNF335, CEP135, KNL1, CEP63, NIN, AMPD2, SEPSECS, TUBGCP6, BUB1B, CLP1, VPS53
Specificity
2 %
Genes
25 %
|
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
25 %
|
Lissencephaly.
By MGZ Medical Genetics Center in Germany.
TUBA1A, DCX, RELN, PAFAH1B1, TUBB2B, TUBG1, KIF2A
Specificity
15 %
Genes
25 %
|
Polymicrogyria asymmetric.
By Centogene AG - the Rare Disease Company in Germany.
TUBB2B
Specificity
100 %
Genes
25 %
|
Microcephaly TUBB2B related.
By Centogene AG - the Rare Disease Company in Germany.
TUBB2B
Specificity
100 %
Genes
25 %
|
Microcephaly panel.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)
View the complete list with 7 more genes
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, AKT3, NHEJ1, CEP135, CEP63, TUBGCP6, NR2E1, MSMO1
Specificity
4 %
Genes
25 %
|
Single gene testing TUBB2B.
By CeGaT GmbH in Germany.
TUBB2B
Specificity
100 %
Genes
25 %
|
Test for Polymicrogyria, Asymmetric.
By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.
TUBB2B
Specificity
100 %
Genes
25 %
|
Microcephaly.
By Asper Biogene Asper Biogene LLC in Estonia.
SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)
View the complete list with 4 more genes
SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1, CEP135, KNL1, CEP63, TUBGCP6
Specificity
5 %
Genes
25 %
|
Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)
View the complete list with 323 more genes
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, TMEM70, ABAT, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, TACO1, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, VRK1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SCN1B, SCN2A, FOLR1, GABRD, GRIN2B, HCN1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, TBC1D24, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, MFSD8, KMT2D, MAGI2, SCN8A, NRXN1, GRIN1, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, SPRED1, CCL2, CLCN2, VANGL1, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, PGK1, RPGRIP1L, ARL13B, SLC46A1, NHEJ1, LIG4, SNAP29, MED17, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, GLRB, GLRA1, SLC6A5, GPHN, CELSR1, EFHC2
Specificity
1 %
Genes
25 %
|
Microcephaly NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)
View the complete list with 15 more genes
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, KIF11, EFTUD2, IER3IP1, AKT3, NHEJ1, LIG4, MED17, CEP135, CEP63, TUBGCP6, BUB1B, NR2E1, MSMO1
Specificity
3 %
Genes
25 %
|
TUBB2B.
By Fulgent Genetics Fulgent Genetics in United States.
TUBB2B
Specificity
100 %
Genes
25 %
|
Comprehensive Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)
View the complete list with 427 more genes
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, ME2, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, LIAS, BOLA3, TMEM70, ABAT, SLC25A12, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GLUD1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, WWOX, TACO1, FARS2, SLC6A8, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, CHRNA7, DHCR7, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, DYNC1H1, VRK1, POMT2, POMT1, KCNA1, CACNB4, SLC1A3, LAMA2, DPM2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, 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, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, RBFOX1, CACNA2D2, MAGI2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, 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, PEX6, FUCA1, NTNG1, MED12, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, UBE2A, CLCN4, SPRED1, CCL2, CLCN2, NEDD4L, MTOR, VANGL1, TSEN34, TSEN2, TUBB2A, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, KDM6A, SMARCA2, ADAR, PGK1, RPGRIP1L, ARL13B, COX10, SLC46A1, AKT3, NHEJ1, LIG4, ASNS, SNAP29, CCDC88C, MED17, ANK3, C12orf57, KCNH5, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, DHFR, GLRB, GLRA1, SLC6A5, HDAC4, SLC12A5, GPHN, SRGAP2, TNK2, HCN2, GABBR2, RYR3, FASN, PIK3AP1, ARHGEF15, CNTN2, KPNA7, RBFOX3, BRD2, VDAC1, UBR5, NIPA2, CELSR1, EFHC2, RANGAP1, KCNAB2, HNRNPH1
Specificity
1 %
Genes
25 %
|
Microcephaly and Pontocerebellar Hypoplasia Panel.
By Blueprint Genetics in Finland.
RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)
View the complete list with 28 more genes
RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A, PNKP, OPHN1, CASK, EXOSC3, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CENPF, STAMBP, KIF11, EFTUD2, MYCN, AKT3, NHEJ1, LIG4, RTTN, KATNB1, MFSD2A, CEP63, XRCC4, PLK4, AMPD2, SEPSECS, TUBGCP4, TUBGCP6, WDR73
Specificity
3 %
Genes
25 %
|
Lissencephaly Panel.
By Blueprint Genetics in Finland.
ATP6V0A2, TUBA1A, ARX, FKTN, POMT1, ISPD, POMGNT2, LARGE1, DCX, RELN, PAFAH1B1, TUBB2B, ACTB, ACTG1, VLDLR, KATNB1, TUBG1, LAMB1, YWHAE
Specificity
6 %
Genes
25 %
|
POLYMICROGYRIA, ASYMMETRIC.
By Laboratorio de Genetica Clinica SL in Spain.
TUBB2B
Specificity
100 %
Genes
25 %
|
Symmetric or Asymmetric Polymicrogyria , Sequencing TUBB2B Gene.
By Reference Laboratory Genetics in Spain.
TUBB2B
Specificity
100 %
Genes
25 %
|