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 |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR
Specificity
1 %
Genes
100 %
|
Congenital Disorders of Glycosylation Panel.
By Baylor Miraca Genetics Laboratories (United States).
SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)
View the complete list with 7 more genes
SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1, TUSC3, COG1, MGAT2, MPDU1, MPI, PMM2, B4GALT1
Specificity
4 %
Genes
100 %
|
Congenital Disorders of Glycosylation.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SLC35A1, COG5, ALG9, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST , (...)
View the complete list with 14 more genes
SLC35A1, COG5, ALG9, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST, DPAGT1, DPM1, DPM3, RFT1, TUSC3, TMEM165, ALG13, ALG11, COG1, MGAT2, MPDU1, MPI, PMM2, B4GALT1
Specificity
3 %
Genes
100 %
|
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)
View the complete list with 153 more genes
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1
Specificity
1 %
Genes
100 %
|
Autosomal Recessive Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...)
View the complete list with 16 more genes
ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN, CC2D1A, TUSC3, TRAPPC9, LINS1, TECR, GRIK2, IDH2, AP4B1, AP4E1, AP4M1, AP4S1, KCNJ10, LRP2, MAN1B1, NRXN1, PRSS12
Specificity
3 %
Genes
100 %
|
CustomNext: Neuro.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)
View the complete list with 176 more genes
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1
Specificity
1 %
Genes
100 %
|
Neurodevelopment-Expanded.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)
View the complete list with 176 more genes
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1
Specificity
1 %
Genes
100 %
|
IDNext.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYNGAP1, TBR1, TCF4 , (...)
View the complete list with 120 more genes
RPL10, RPS6KA3, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, NSD1, PCDH19, NLGN4X, NLGN3, ARHGEF9, ZEB2, CASK, ADNP, RAB39B, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, CHD2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, ANKRD11, SATB2, VPS13B, CREBBP, MED23, EHMT1, SMC3, ZC4H2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, NIPBL, WDR45, DLG3, IQSEC2, NEXMIF, DYNC1H1, DNM1, PACS1, CC2D1A, TUSC3, PNPO, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GAMT, GATM, GDI1, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNJ10, L1CAM, LAMP2, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1
Specificity
1 %
Genes
100 %
|
You can check the following sources for additional information.