Microcephaly 1, Primary, Autosomal Recessive; Mcph1

Description

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005).Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984).MCPH1 in particular is associated with premature chromosome condensation in cell studies (Darvish et al., 2010). Genetic Heterogeneity of Primary MicrocephalyPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 (OMIM ), caused by mutation in the WDR62 gene (OMIM ) on chromosome 19q13; MCPH3 (OMIM ), caused by mutation in the CDK5RAP2 gene (OMIM ) on 9q33; MCPH4 (OMIM ), caused by mutation in the CASC5 gene (OMIM ) on 15q14; MCPH5 (OMIM ), caused by mutation in the ASPM gene (OMIM ) on 1q; MCPH6 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on 13q12; MCPH7 (OMIM ), caused by mutation in the STIL gene (OMIM ) on 1p33; MCPH8 (OMIM ), caused by mutation in the CEP135 gene (OMIM ) on 4q12; MCPH9 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on 15q21; MCPH10 (OMIM ), caused by mutation in the ZNF335 gene (OMIM ) on 20q13; MCPH11 (OMIM ), caused by mutation in the PHC1 gene (OMIM ) on 12p13; MCPH12 (OMIM ), caused by mutation in the CDK6 gene (OMIM ) on 7q21; MCPH13 (OMIM ), caused by mutation in the CENPE gene (OMIM ) on 4q24; MCPH14 (OMIM ), caused by mutation in the SASS6 gene (OMIM ) on 1p21; MCPH15 (OMIM ), caused by mutation in the MFSD2A gene (OMIM ) on 1p34; MCPH16 (OMIM ), caused by mutation in the ANKLE2 gene (OMIM ) on 12q24; MCPH17 (OMIM ), caused by mutation in the CIT gene (OMIM ) on 12q24; MCPH18 (OMIM ), caused by mutation in the WDFY3 gene (OMIM ) on 4q21; and MCPH19 (OMIM ), caused by mutation in the COPB2 gene (OMIM ) on 3q23.

Genes related to Microcephaly 1, Primary, Autosomal Recessive; Mcph1

PYCR2
KIF14
ANGPT2
MCPH1
MCPH1-AS1
ASPM
CDK6
COPB2
TAF13
WDR62
KNL1
PHC1
ANKLE2
MFSD2A
CEP63
STIL
CEP152
SASS6
CEP135
CENPJ
CDK5RAP2
CIT
NCAPD3

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 1, Primary, Autosomal Recessive; Mcph1

Intellectual disability
Seizures
Global developmental delay
Short stature
Microcephaly
Growth delay
Micrognathia
Ptosis
Hyperreflexia
Ventriculomegaly

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Microcephaly 1, Primary, Autosomal Recessive; Mcph1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A , (...) View the complete list with 50 more genes Panel GTR000507771 complete gene list TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A, SASS6, MED17, KATNB1, TBC1D20, TRMT10A, LIG4, NHEJ1, RBBP8, IER3IP1, RAB18, EFTUD2, KIF11, STAMBP, RAB3GAP2, CENPF, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, CTNNB1, ZEB2, CASK, ATRX, KIF1BP, TCF4, PNKP, DYRK1A, SPATA5, STIL, TSEN54, RAB3GAP1, PQBP1, NDE1, QARS, CENPJ, ARFGEF2, ASPM, MCPH1, NBN, WDR62, SLC2A1, FOXG1, CDKL5, WWOX, SLC9A6, MECP2, SLC25A19, UBE3A Specificity 22 % Genes 66 %
Microcephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. SLC1A4, PPP1R15B, USP18, TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, TRAPPC9, CEP63, KNL1, CEP135, ZNF335 , (...) View the complete list with 59 more genes Panel GTR000558956 complete gene list SLC1A4, PPP1R15B, USP18, TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A, SASS6, AGMO, CIT, MED17, KATNB1, TBC1D20, TRMT10A, LIG4, NHEJ1, RBBP8, IER3IP1, RAB18, EFTUD2, KIF11, STAMBP, RAB3GAP2, SOX11, CENPF, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, EIF2S3, CTNNB1, DIAPH1, ZEB2, CASK, ATRX, KIF1BP, TCF4, PNKP, DYRK1A, SPATA5, STIL, TSEN54, RAB3GAP1, PQBP1, NDE1, QARS, CENPJ, ARFGEF2, ASPM, MCPH1, NBN, WDR62, SLC2A1, FOXG1, CDKL5, WWOX, SLC9A6, MECP2, SLC25A19, UBE3A Specificity 21 % Genes 70 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 53 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 5 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel. By CeGaT GmbH in Germany. TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...) View the complete list with 155 more genes Panel GTR000522492 complete gene list TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM, OCLN, STXBP2, STX11, UNC13D, ERCC8, EARS2, TREM2, CSF1R, COX10, CTC1, RNASET2, AP4E1, ADAR, DDHD2, TUBB4A, IFIH1, ERCC6, GMPPB, GAN, AARS, CLCN2, SLC16A2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, ERCC3, ERCC2, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, KCNT1, FOLR1, LARGE1, LAMA2, POMT1, POMT2, SPG21, SPART, FA2H, CYP7B1, FKRP, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, PLA2G6, PHGDH, EIF2B5, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PEX2, FKTN, PRF1, PLP1, NPC2, NPC1, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, SDHA, MTFMT, FARS2, TACO1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, APOPT1, PET100, NDUFA2, MPV17, ACOX1, PHYH, ALDH3A2, HEXA, ABCD1, D2HGDH, TYMP, SCO2, GFM1, TUFM, DARS2, SUCLA2, SLC25A12, SCP2, NUBPL, TTC19, HMGCL, NDUFAF1, TMEM70, NDUFA9, NDUFA12, NDUFAF2, FOXRED1, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, HSD17B4, MMACHC, C12orf65, BCS1L, AUH, ATP7B, ATP7A, TYROBP, PC, AARS2 Specificity 1 % Genes 5 %
Leukodystrophy / Leukoencephalopathy Panel. By CeGaT GmbH in Germany. TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...) View the complete list with 56 more genes Panel GTR000551348 complete gene list TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR, TUBB4A, IFIH1, AARS, CLCN2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, SUMF1, SLC17A5, PEX1, MLC1, PEX7, PEX2, PLP1, GJC2, EIF2B1, ASPA, ARSA, CYP27A1, GCDH, GBE1, L2HGDH, GALC, ACOX1, ALDH3A2, ABCD1, DARS2, SCP2, HSPD1, PSAP, HSD17B4, TYROBP, AARS2 Specificity 2 % Genes 5 %
PYCR2. By Fulgent Genetics Fulgent Genetics in United States. PYCR2 Specificity 100 % Genes 5 %
Leukodystrophy and Leukoencephalopathy Panel. By Blueprint Genetics in Finland. SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2 , (...) View the complete list with 54 more genes Panel GTR000552764 complete gene list SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2, CTC1, RNASET2, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, CLCN2, SOX10, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1, FA2H, NOTCH3, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, EIF2B5, SUMF1, MLC1, PLP1, GJC2, EIF2B1, ASPA, ARSA, MTFMT, CYP27A1, COX6B1, L2HGDH, GALC, HIBCH, NDUFAF5, SDHAF1, COX15, ALDH3A2, ABCD1, AIFM1, D2HGDH, GFM1, DARS2, NUBPL, TTC19, NFU1, FOXRED1, HSPD1, PSAP Specificity 2 % Genes 5 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 5 %
Joubert/Meckel-Gruber syndrome Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 13 more genes Panel GTR000500621 complete gene list CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Meckel Gruber Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 7 % Genes 5 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2 , (...) View the complete list with 55 more genes Panel GTR000531706 complete gene list REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, SDCCAG8, WDPCP, WDR19, IFT140, KIAA0586, TMEM231, TFAP2A, DCDC2, SALL1, OFD1, PKD2, UMOD, AHI1, TMEM216, PKHD1, CDC73, TSC1, TSC2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, JAG1, CC2D2A, INPP5E, HNF1B, INVS, VHL Specificity 2 % Genes 5 %
Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 7 % Genes 5 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 13 more genes Panel GTR000560685 complete gene list CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1 , (...) View the complete list with 8 more genes Panel GTR000505675 complete gene list ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, DNAH8, FOXH1, NODAL, TMEM231, DCDC2, OFD1, AHI1, TMEM216, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 2 % Genes 5 %
Joubert syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560982 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Joubert syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560984 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Joubert syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560985 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 5 %
KIF14. By Fulgent Genetics Fulgent Genetics in United States. KIF14 Specificity 100 % Genes 5 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 1 % Genes 5 %
Ciliopathy Panel. By Blueprint Genetics in Finland. ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...) View the complete list with 79 more genes Panel GTR000552623 complete gene list ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, C2CD3, TCTN3, B9D2, ACVR2B, LEFTY2, IFT122, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, LZTFL1, WDR19, CENPF, IFT140, POC1B, CFAP410, GLI3, GLI2, NODAL, USP9X, WDR35, KIAA0586, TMEM231, DCDC2, OFD1, PNPLA6, PKD1, PKD2, AHI1, TMEM216, PKHD1, DHCR7, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, IQCB1, C8orf37, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 2 % Genes 5 %
Meckel Syndrome Panel. By Blueprint Genetics in Finland. KIF14, TMEM107, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 8 % Genes 5 %
ANGPT2. By Fulgent Genetics Fulgent Genetics in United States. ANGPT2 Specificity 100 % Genes 5 %
Primary Microcephaly Sequencing Evaluation. By Athena Diagnostics Inc in United States. ASPM, MCPH1, WDR62 Specificity 100 % Genes 14 %
MCPH1 Sequencing Test. By Athena Diagnostics Inc in United States. MCPH1 Specificity 100 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations. By Athena Diagnostics Inc in United States. TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...) View the complete list with 20 more genes Panel GTR000559458 complete gene list TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, FOLR1, ASPM, MCPH1, LARGE1, LAMA2, POMT1, POMT2, FKRP, DPYD, POMGNT1, PEX7, FKTN, WDR62, ARX, FGFR3, TUBA1A, SLC25A19, SHH, CPT2, PAX6 Specificity 13 % Genes 22 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 3 % Genes 22 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR Specificity 5 % Genes 31 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 86 more genes Panel GTR000552175 complete gene list DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, RAB3GAP2, GLI3, EZH2, NFIX, ATR, PCNT, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, UPF3B, LAMC3, MED12, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, PHF6, ATRX, OFD1, KIF1BP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, ASPM, MCPH1, LARGE1, POMT1, POMT2, VRK1, L1CAM, FGF8, FKRP, AHI1, TMEM216, POMGNT1, FKTN, PTCH1, NSD1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, ARX, HESX1, SOX2, MKS1, SLC9A6, MRPS16, RARS2, TUBA1A, MECP2, SLC25A19, SHH, CEP290, NPHP1, TMEM67, OTX2, CC2D2A, TUBB3, PTEN, UBE3A Specificity 7 % Genes 31 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...) View the complete list with 78 more genes Panel GTR000552213 complete gene list PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1, TSEN54, FLNA, DCX, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, CASR, GCH1, CACNA1A, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, POLG, ADGRV1, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 4 % Genes 14 %
Microcephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MYCN, RBBP8, IER3IP1, RAB18, RAB3GAP2, ATR, PCNT, CDK5RAP2, CEP152, ZEB2, CASK, ATRX, TCF4, STIL, RAB3GAP1, CENPJ, ASPM, MCPH1, NIPBL, WDR62 , (...) View the complete list with 8 more genes Panel GTR000552326 complete gene list MYCN, RBBP8, IER3IP1, RAB18, RAB3GAP2, ATR, PCNT, CDK5RAP2, CEP152, ZEB2, CASK, ATRX, TCF4, STIL, RAB3GAP1, CENPJ, ASPM, MCPH1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, SLC9A6, MECP2, SLC25A19, TUBB3, UBE3A Specificity 25 % Genes 31 %
MCPH1 sequencing. By Genetic Services Laboratory University of Chicago in United States. MCPH1 Specificity 100 % Genes 5 %
Autosomal Recessive Primary Microcephaly Tier 2 panel. By Genetic Services Laboratory University of Chicago in United States. CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A, SASS6, AGMO, CIT, MED17, STAMBP, CENPF, CDK5RAP2, CEP152, PNKP, STIL, NDE1, CENPJ , (...) View the complete list with 4 more genes Panel GTR000500114 complete gene list CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A, SASS6, AGMO, CIT, MED17, STAMBP, CENPF, CDK5RAP2, CEP152, PNKP, STIL, NDE1, CENPJ, ARFGEF2, MCPH1, WDR62, SLC25A19 Specificity 59 % Genes 61 %
MCPH1. By Institute for Human Genetics University Clinic Freiburg in Germany. MCPH1 Specificity 100 % Genes 5 %
MCPH1 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. MCPH1 Specificity 100 % Genes 5 %
MCPH1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MCPH1 Specificity 100 % Genes 5 %
Primary Autosomal Recessive Microcephaly type 1 (sequence analysis of MCPH1 gene). By CGC Genetics in Portugal. MCPH1 Specificity 100 % Genes 5 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes). By CGC Genetics in Portugal. VPS53, CLP1, BUB1B, TUBGCP6, SEPSECS, AMPD2, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, LIG4, NHEJ1, RBBP8, IER3IP1, EFTUD2 , (...) View the complete list with 32 more genes Panel GTR000525192 complete gene list VPS53, CLP1, BUB1B, TUBGCP6, SEPSECS, AMPD2, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, LIG4, NHEJ1, RBBP8, IER3IP1, EFTUD2, KIF11, STAMBP, AP4M1, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, EXOSC3, CASK, OPHN1, PNKP, DYRK1A, TUBB2B, STIL, PAFAH1B1, TSEN54, PQBP1, NDE1, CENPJ, MBD5, ASPM, MCPH1, POMT1, VRK1, DYNC1H1, WDR62, RARS2, DNM1L, SLC25A19 Specificity 20 % Genes 44 %
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene. By PreventionGenetics PreventionGenetics in United States. MCPH1 Specificity 100 % Genes 5 %
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KNL1, CEP135, CIT, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62 Specificity 100 % Genes 44 %
Microcephaly. By Institute of Human Genetics Cologne University in Germany. CEP63, KNL1, CEP135, ZNF335, CDK5RAP2, CEP152, PNKP, STIL, CENPJ, ASPM, MCPH1, WDR62 Specificity 84 % Genes 44 %
Microcephaly, primary, autosomal recessive type I. By Centogene AG - the Rare Disease Company in Germany. MCPH1 Specificity 100 % Genes 5 %
Microcephaly panel. By Centogene AG - the Rare Disease Company in Germany. MSMO1, NR2E1, TUBGCP6, CEP63, CEP135, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1 , (...) View the complete list with 7 more genes Panel GTR000515358 complete gene list MSMO1, NR2E1, TUBGCP6, CEP63, CEP135, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM, MCPH1, POMT1, WDR62, DNM1L, SLC25A19 Specificity 34 % Genes 40 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 44 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 2 % Genes 31 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 2 % Genes 31 %
Microcephaly and Pontocerebellar Hypoplasia Panel. By CeGaT GmbH in Germany. BUB1B, SEPSECS, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, RBBP8, STAMBP, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34 , (...) View the complete list with 16 more genes Panel GTR000522394 complete gene list BUB1B, SEPSECS, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, RBBP8, STAMBP, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, EXOSC3, CASK, PNKP, DYRK1A, STIL, TSEN54, PQBP1, CENPJ, MBD5, ASPM, MCPH1, VRK1, DYNC1H1, WDR62, RARS2, SLC25A19 Specificity 28 % Genes 44 %
Microcephaly and Pontocerebellar Hypoplasia Panel. By CeGaT GmbH in Germany. BUB1B, SEPSECS, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, RBBP8, STAMBP, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34 , (...) View the complete list with 16 more genes Panel GTR000522411 complete gene list BUB1B, SEPSECS, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, RBBP8, STAMBP, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, EXOSC3, CASK, PNKP, DYRK1A, STIL, TSEN54, PQBP1, CENPJ, MBD5, ASPM, MCPH1, VRK1, DYNC1H1, WDR62, RARS2, SLC25A19 Specificity 28 % Genes 44 %
Microcephaly. By Asper Biogene Asper Biogene LLC in Estonia. TUBGCP6, CEP63, KNL1, CEP135, NHEJ1, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM , (...) View the complete list with 4 more genes Panel GTR000527475 complete gene list TUBGCP6, CEP63, KNL1, CEP135, NHEJ1, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM, MCPH1, POMT1, WDR62, SLC25A19 Specificity 42 % Genes 44 %
Brain malformations. By Asper Biogene Asper Biogene LLC in Estonia. CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...) View the complete list with 125 more genes Panel GTR000553541 complete gene list CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3, NHEJ1, AKT3, PIK3R2, DHCR24, VLDLR, IER3IP1, RAB18, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, EFTUD2, KIF11, AP4M1, RAB3GAP2, TUBB4A, CHMP1A, PIEZO2, GMPPB, POMK, GPSM2, ATR, PCNT, CDK5RAP2, CEP152, TUBB2A, TSEN2, TSEN34, EXOSC3, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FAT4, TMEM231, LAMC3, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, ATRX, OFD1, KIF1BP, TCF4, PNKP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, ASPM, MCPH1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, VRK1, DYNC1H1, WASHC5, FKRP, AHI1, TMEM216, SLC12A6, POMGNT1, PEX1, PEX2, FKTN, NBN, WDR62, DHCR7, CREBBP, ARX, PDHX, MKS1, ETFDH, ETFA, ETFB, DLAT, PDHA1, AMT, GLDC, GCSH, PDP1, RARS2, TUBA1A, PDHB, MECP2, SLC25A19, DLD, CEP290, NPHP1, TMEM67, SRD5A3, ATP6V0A2, CC2D2A, INPP5E, TUBB3 Specificity 7 % Genes 44 %
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CEP63, KNL1, CEP135, CDK6, RBBP8, ATR, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62 Specificity 85 % Genes 48 %
Epilepsy and Seizure Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 90 more genes Panel GTR000512416 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, CYP27A1, NDUFA1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 5 % Genes 22 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A Specificity 7 % Genes 44 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 87 more genes Panel GTR000558825 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, TBC1D24, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 5 % Genes 22 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 3 % Genes 31 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 1 % Genes 14 %
Microcephaly NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MSMO1, NR2E1, BUB1B, TUBGCP6, CEP63, CEP135, MED17, LIG4, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, CASK, PNKP , (...) View the complete list with 15 more genes Panel GTR000509449 complete gene list MSMO1, NR2E1, BUB1B, TUBGCP6, CEP63, CEP135, MED17, LIG4, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, TSEN54, PQBP1, NDE1, CENPJ, MCPH1, POMT1, VRK1, MRE11, WDR62, RARS2, DNM1L, SLC25A19 Specificity 23 % Genes 35 %
MCPH1. By Fulgent Genetics Fulgent Genetics in United States. MCPH1 Specificity 100 % Genes 5 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 31 %
Microcephaly and Pontocerebellar Hypoplasia Panel. By Blueprint Genetics in Finland. WDR73, TUBGCP6, TUBGCP4, SEPSECS, AMPD2, PLK4, XRCC4, CEP63, MFSD2A, KATNB1, RTTN, LIG4, NHEJ1, AKT3, MYCN, EFTUD2, KIF11, STAMBP, CENPF, ATR , (...) View the complete list with 28 more genes Panel GTR000552690 complete gene list WDR73, TUBGCP6, TUBGCP4, SEPSECS, AMPD2, PLK4, XRCC4, CEP63, MFSD2A, KATNB1, RTTN, LIG4, NHEJ1, AKT3, MYCN, EFTUD2, KIF11, STAMBP, CENPF, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, EXOSC3, CASK, OPHN1, PNKP, DYRK1A, KANSL1, TUBB2B, STIL, PAFAH1B1, TSEN54, PQBP1, NDE1, CENPJ, MBD5, ASPM, MCPH1, POMT1, VRK1, DYNC1H1, PHGDH, MRE11, WDR62, GFM1, RARS2 Specificity 19 % Genes 40 %
Autosomal recessive primary microcephaly type 1. By Bioarray in Spain. MCPH1 Specificity 100 % Genes 5 %
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY). By Laboratorio de Genetica Clinica SL in Spain. KNL1, CEP135, CDK6, PHC1, SASS6, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62 Specificity 100 % Genes 53 %
Autosomal Recessive Primary Microcephaly Type 1 , Sequencing MCPH1 Gene. By Reference Laboratory Genetics in Spain. MCPH1 Specificity 100 % Genes 5 %
Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics in Spain. KNL1, CEP135, CDK6, CDK5RAP2, CENPJ, ASPM, MCPH1, WDR62 Specificity 100 % Genes 35 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 9 %
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ATRIP, NIN, CEP63, KNL1, CEP135, CDK6, PHC1, RBBP8, ATR, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62 Specificity 75 % Genes 53 %
ASPM Sequencing Test. By Athena Diagnostics Inc in United States. ASPM Specificity 100 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...) View the complete list with 64 more genes Panel GTR000559453 complete gene list BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ASPM, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, PHGDH, SLC2A1, PCDH19, CHRNA7, SLC6A8, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, AMT, GLDC, ALG9, SUCLA2, GATM, GAMT, ABAT, LIAS, SLC25A19, ADSL, ALPL Specificity 2 % Genes 5 %
ASPM sequencing. By Genetic Services Laboratory University of Chicago in United States. ASPM Specificity 100 % Genes 5 %
ASPM deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. ASPM Specificity 100 % Genes 5 %
ASPM. By Institute for Human Genetics University Clinic Freiburg in Germany. ASPM Specificity 100 % Genes 5 %
Autism/Intellectual Disability/Multiple Anomalies. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...) View the complete list with 69 more genes Panel GTR000327662 complete gene list ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, KMT2D, PAFAH1B1, RELN, PQBP1, DCX, MBD5, FOLR1, GABRB3, ASPM, L1CAM, FGFR1, NF1, SCN1A, MET, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, HDAC8, FGFR2, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PCDH19, NRAS, MEF2C, MAP2K1, KRAS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, FGFR3, SLC9A6, TUBA1A, MECP2, RAF1, MKKS, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
ASPM mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. ASPM Specificity 100 % Genes 5 %
ASPM. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ASPM Specificity 100 % Genes 5 %
Microcephaly, primary AR (deletion/duplication analysis of ASPM gene). By CGC Genetics in Portugal. ASPM Specificity 100 % Genes 5 %
Primary Autosomal Recessive Microcephaly type 5 (sequence analysis of ASPM gene). By CGC Genetics in Portugal. ASPM Specificity 100 % Genes 5 %
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ASPM Specificity 100 % Genes 5 %
Neuronal Migration with Microcephaly. By MGZ Medical Genetics Center in Germany. CDK5RAP2, CEP152, STIL, CENPJ, ASPM, WDR62 Specificity 100 % Genes 27 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 3 % Genes 27 %
Microcephaly, primary, autosomal recessive type 5. By Centogene AG - the Rare Disease Company in Germany. ASPM Specificity 100 % Genes 5 %
Single gene testing ASPM. By CeGaT GmbH in Germany. ASPM Specificity 100 % Genes 5 %
Primary Autosomal Recessive Microcephaly Type 5. By MVZ Dortmund Dr. Eberhard & Partner in Germany. ASPM Specificity 100 % Genes 5 %
Microcephaly 5, primary, autosomal recessive (MCPH5, ASPM). By MVZ Dortmund Dr. Eberhard & Partner in Germany. ASPM Specificity 100 % Genes 5 %
Microcephaly 5, Primary autosomal recessive: ASPM gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ASPM Specificity 100 % Genes 5 %
ASPM. By Fulgent Genetics Fulgent Genetics in United States. ASPM Specificity 100 % Genes 5 %
Microcephaly 5, primary, autosomal recessive. By Bioarray in Spain. ASPM Specificity 100 % Genes 5 %
Autosomal Recessive Primary Microcephaly Type 5 , Sequencing ASPM Gene. By Reference Laboratory Genetics in Spain. ASPM Specificity 100 % Genes 5 %
Autosomal Recessive Primary Microcephaly Type 5 , Deletions-Duplications (MLPA) ASPM Gene. By Reference Laboratory Genetics in Spain. ASPM Specificity 100 % Genes 5 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes. By Reference Laboratory Genetics in Spain. LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...) View the complete list with 18 more genes Panel GTR000559932 complete gene list LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, NDE1, DCX, ARFGEF2, COL4A1, ASPM, LARGE1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, FOXG1, ARX, TUBA1A, TUBB3 Specificity 6 % Genes 9 %
CDK6. By Institute for Human Genetics University Clinic Freiburg in Germany. CDK6 Specificity 100 % Genes 5 %
Custom solid tumor gene sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...) View the complete list with 25 more genes Panel GTR000560775 complete gene list RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ, PIK3CA, BAP1, KIT, ERBB3, MTOR, CTNNB1, ERCC2, HGF, GRIN2A, NF1, MET, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, RET, TYRP1, FOXL2, TP53, PTEN, APC Specificity 3 % Genes 5 %
Cancer Hotspot Panel. By Centogene AG - the Rare Disease Company in Germany. MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...) View the complete list with 68 more genes Panel GTR000527970 complete gene list MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO, CDKN2B, ERBB2, DDR2, MDM2, CCND1, KDR, PDGFRB, CDK6, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, ATR, MTOR, CTNNB1, FGFR1, NF1, NTRK1, MPL, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, TSC2, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, GNAT2, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 5 %
CDK6. By Fulgent Genetics Fulgent Genetics in United States. CDK6 Specificity 100 % Genes 5 %
Solid Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...) View the complete list with 102 more genes Panel GTR000515819 complete gene list BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2, KEAP1, ERBB4, PPP2R1A, FAT1, RXRA, MYC, MN1, AFF3, ERBB2, DDR2, CDK12, CCND1, MAP3K3, KDR, FLT1, PDGFRB, CDK6, NTRK2, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, FLT3, AKT2, POLD1, CSF1R, PIK3CA, GATA4, CDKN1B, BAP1, FANCA, SMAD2, GNAS, KIT, FLT4, TEK, SMARCB1, SMARCA4, ERBB3, TERT, TGFBR2, NOTCH1, MTOR, SPRED1, CTNNB1, MED12, ERCC2, KDM5C, ATRX, SETD2, KMT2D, FGFR1, NF1, NTRK1, BRIP1, SMAD4, CHEK2, MET, CDKN2A, STK11, CDH1, PALB2, NF2, ATM, ALK, TSC1, TSC2, MAP2K2, RIT1, FGFR2, SOS1, SHOC2, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, WT1, PPARG, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 5 %
Breast Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...) View the complete list with 22 more genes Panel GTR000553949 complete gene list RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MAP2K2, FGFR2, MAP2K1, KRAS, HRAS, BRAF, IDH2, RET, RB1, TP53, RUNX1, PTEN, BRCA2, BRCA1 Specificity 3 % Genes 5 %
FoundationOne® Heme. By Foundation Medicine, Inc. in United States. TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...) View the complete list with 385 more genes Panel GTR000527977 complete gene list TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2, ID3, KDM2B, JAK1, JUN, KDM4C, KLHL6, IKBKE, INPP4B, IKZF3, HSP90AA1, JARID2, LRP1B, LEF1, APH1A, BCL2L2, AURKB, ARFRP1, ARHGAP26, MDM4, MAP2K4, MAGED1, BTLA, MCL1, EMSY, BCL7A, MKI67, BTG2, CHEK1, NUP98, PCLO, PCBP1, PASK, PDCD1, PBRM1, DAXX, PDCD11, PDCD1LG2, EPHB1, EPHA3, EBF1, DOT1L, EPHA5, ECT2L, EPHA7, FGF6, FBXO11, FAF1, ERG, FHIT, TENT5C, ETS1, FRS2, FOXO3, GADD45B, CD274, MYO18A, CCT6B, CDK8, CCND3, CD22, NOD1, CD58, GSK3B, IRF1, IRF4, IRS2, PIK3CG, CRKL, MAPK1, MAP3K14, AXIN1, CRLF2, INHBA, XBP1, BCL10, IRF8, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, RICTOR, KDM5A, EED, ERBB4, PPP2R1A, MAP3K7, ELP2, CIC, AXL, CD70, CAD, NUP93, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, CDKN2B, PTPRO, TCF3, RARA, CBFB, ERBB2, MSH3, MAFB, DDR2, MDM2, IGF1R, MALT1, CDK12, HDAC4, BCL2, CCND1, MIB1, KAT6A, DDX3X, CD79B, CD79A, B2M, PLCG2, NCSTN, TNFAIP3, KDR, FLT1, WISP3, NSD2, RAD51, PDGFRB, CTCF, FBXO31, CDK6, SRC, ICK, MAP3K1, CCND2, NTRK2, CARD11, POT1, TRAF3, NOTCH2, TYK2, PRKDC, PIK3R1, CIITA, NFKBIA, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, IL7R, BCORL1, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, CD36, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, TGFBR2, NOTCH1, ATR, MTOR, ZMYM3, TAF1, GATA1, CTNNB1, FOXP1, MED12, S1PR2, GATA3, FGF3, SOX10, HGF, ACTB, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, RELN, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, LRRK2, NF1, NTRK1, DNM2, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, TMSB4X, GID4, SERP2, ZNF703, FLYWCH1, PAG1, MEF2B, GNA12, EXOSC6, DUSP9, AURKA, TOP1, P2RY8, MAP3K6, FGF4, SMARCA1, SUZ12, DUSP2, NCOR2, DTX1, ASMTL, BRSK1, FGF19, RHOA, BCL11B, FOXO1, ADGRA2, PTPN6, PTPN2, RASGEF1A, PRSS8, SGK1, STAT6, SOCS3, TCL1A, SOCS2, SPEN, SOCS1, STAT5A, SPOP, STAT4, YY1AP1, ZNF24, WDR90, TLL2, XPO1, ZNF217, TMEM30A, TRAF2, TNFRSF17, TNFRSF14, U2AF2, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MEF2C, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, BCOR, AMER1, TUSC3, SDHB, IDH2, RAF1, SDHC, CPS1, TNFRSF11A, RET, RB1, WT1, HNF1A, FOXL2, PC, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 5 %
Guardant360. By Guardant Health in United States. MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...) View the complete list with 53 more genes Panel GTR000527948 complete gene list MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7, IDH1, PDGFRA, JAK2, EGFR, NPM1, GNAQ, PIK3CA, GNAS, JAK3, KIT, ARID1A, TERT, EZH2, NOTCH1, MTOR, CTNNB1, GATA3, FGFR1, NF1, NTRK1, MPL, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, ATM, ALK, TSC1, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 5 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...) View the complete list with 295 more genes Panel GTR000558437 complete gene list IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 5 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 14 %
OmniSeq Comprehensive. By OmniSeq, Inc. in United States. NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...) View the complete list with 124 more genes Panel GTR000552042 complete gene list NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2, MCL1, MAGOH, CSNK2A1, DCUN1D1, PDCD1LG2, ERG, CD274, MYO18A, IFITM3, CD44, MAPK1, ESR1, FGFR4, NTRK3, MYCL, ROS1, ARAF, NFE2L2, CCNE1, IL6, RAC1, ERBB4, PPP2R1A, AXL, BIRC3, MYC, SMO, ERBB2, DDR2, MDM2, IGF1R, ETV5, CCND1, KDR, CDK6, SRC, NTRK2, PIK3R1, AKT1, AKT3, GNA11, FBXW7, IDH1, MYD88, PDGFRA, SF3B1, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, BAP1, GNAS, JAK3, KIT, SMARCB1, ERBB3, NKX2-1, TERT, ACVRL1, EZH2, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, GATA3, FGFR1, NF1, NTRK1, BTK, MPL, PAX5, GATA2, SMAD4, MAX, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, PNP, STAT3, SOX2, IDH2, RAF1, RET, RB1, WT1, PPARG, HNF1A, FOXL2, TP53, PTEN, MLH1, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 5 %
Solid Tumor Targeted Mutation and Fusion Panel. By Providence Regional Laboratories Providence Health and Services in United States. ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...) View the complete list with 30 more genes Panel GTR000556836 complete gene list ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, MYCN, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1, FGFR1, NTRK1, MET, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET, PPARG Specificity 2 % Genes 5 %
Tempus xT assay. By Tempus Labs, Inc. in United States. HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 1 % Genes 5 %
COPB2. By Fulgent Genetics Fulgent Genetics in United States. COPB2 Specificity 100 % Genes 5 %
WDR62 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. WDR62 Specificity 100 % Genes 5 %
WDR62 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. WDR62 Specificity 100 % Genes 5 %
WDR62 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. WDR62 Specificity 100 % Genes 5 %
WDR62 Sequencing Test. By Athena Diagnostics Inc in United States. WDR62 Specificity 100 % Genes 5 %
WDR62 sequencing. By Genetic Services Laboratory University of Chicago in United States. WDR62 Specificity 100 % Genes 5 %
Polymicrogyria Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. RTTN, TBC1D20, AKT3-IT1, CCND2, OCLN, RAB18, RAB3GAP2, GPSM2, KIF1BP, TUBB2B, ADGRG1, TUBA8, RAB3GAP1, NDE1, WDR62, TUBA1A, TUBB3 Specificity 6 % Genes 5 %
Cerebral Cortical Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP , (...) View the complete list with 6 more genes Panel GTR000508585 complete gene list RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, TUBB3 Specificity 4 % Genes 5 %
Cerebral Cortical Malformation Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...) View the complete list with 34 more genes Panel GTR000508586 complete gene list SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB, POMK, GPSM2, TUBB2A, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, DCX, ARFGEF2, B3GALNT2, LARGE1, POMGNT2, B4GAT1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 2 % Genes 5 %
Polymicrogyria Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. RTTN, TBC1D20, AKT3-IT1, CCND2, OCLN, RAB18, RAB3GAP2, GPSM2, KIF1BP, TUBB2B, ADGRG1, TUBA8, RAB3GAP1, NDE1, WDR62, TUBA1A, TUBB3 Specificity 6 % Genes 5 %
WDR62 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. WDR62 Specificity 100 % Genes 5 %
Cerebral Cortical Malformations Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...) View the complete list with 34 more genes Panel GTR000560681 complete gene list SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB, POMK, GPSM2, TUBB2A, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, DCX, ARFGEF2, B3GALNT2, LARGE1, POMGNT2, B4GAT1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 2 % Genes 5 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 5 %
WDR62. By Institute for Human Genetics University Clinic Freiburg in Germany. WDR62 Specificity 100 % Genes 5 %
Lissencephaly Panel. By GeneDx in United States. LAMB1, VLDLR, GMPPB, ACTG1, ACTB, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN , (...) View the complete list with 4 more genes Panel GTR000529135 complete gene list LAMB1, VLDLR, GMPPB, ACTG1, ACTB, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, ATP6V0A2 Specificity 5 % Genes 5 %
WDR62 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. WDR62 Specificity 100 % Genes 5 %
Primary Autosomal Recessive Microcephaly type 2 (sequence analysis of WDR62 gene). By CGC Genetics in Portugal. WDR62 Specificity 100 % Genes 5 %
Primary Autosomal Recessive Microcephaly type 2 (duplication of exon 1 of WDR62 gene). By CGC Genetics in Portugal. WDR62 Specificity 100 % Genes 5 %
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. WDR62 Specificity 100 % Genes 5 %
Lissencephaly and related disorders NGS test. By Connective Tissue Gene Tests in United States. TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...) View the complete list with 22 more genes Panel GTR000561248 complete gene list TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 3 % Genes 5 %
Lissencephaly and related disorders Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...) View the complete list with 22 more genes Panel GTR000561249 complete gene list TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 3 % Genes 5 %
Lissencephaly and related disorders Comprehensive test. By Connective Tissue Gene Tests in United States. TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...) View the complete list with 22 more genes Panel GTR000561251 complete gene list TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 3 % Genes 5 %
Polymicrogyria. By MGZ Medical Genetics Center in Germany. KIF5C, TUBB, OCLN, EOMES, GPSM2, NSDHL, KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, NDE1, WDR62, CHD7, TUBA1A, FH, TUBB3 Specificity 6 % Genes 5 %
Microcephaly with cortical malformations, autosomal recessive type 2a. By Centogene AG - the Rare Disease Company in Germany. WDR62 Specificity 100 % Genes 5 %
Microcephaly 2, primary, autosomal recessive, with cortical malformations. By Centogene AG - the Rare Disease Company in Germany. WDR62 Specificity 100 % Genes 5 %
Microcephaly 2, primary, autosomal recessive, with cortical malformations. By Centogene AG - the Rare Disease Company in Germany. WDR62 Specificity 100 % Genes 5 %
Neuronal Migration Disorders Panel. By CeGaT GmbH in Germany. DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...) View the complete list with 30 more genes Panel GTR000522375 complete gene list DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, TUBB3 Specificity 2 % Genes 5 %
Neuronal Migration Disorders Panel. By CeGaT GmbH in Germany. DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...) View the complete list with 30 more genes Panel GTR000522412 complete gene list DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, TUBB3 Specificity 2 % Genes 5 %
Single gene testing WDR62. By CeGaT GmbH in Germany. WDR62 Specificity 100 % Genes 5 %
Brain Malformations: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...) View the complete list with 30 more genes Panel GTR000512588 complete gene list RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, RAB3GAP1, PQBP1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, WDR62, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, TUBB3 Specificity 2 % Genes 5 %
Brain Malformations: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...) View the complete list with 30 more genes Panel GTR000558548 complete gene list RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, RAB3GAP1, PQBP1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, WDR62, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, TUBB3 Specificity 2 % Genes 5 %
WDR62. By Fulgent Genetics Fulgent Genetics in United States. WDR62 Specificity 100 % Genes 5 %
Polymicrogyria Panel. By Blueprint Genetics in Finland. OCLN, AKT3, RAB18, GPSM2, TUBB2A, NSDHL, LAMC3, KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, NDE1, WDR62, TUBA1A, FH, TUBB3 Specificity 6 % Genes 5 %
Neuronal Migration Disorder Panel. By Blueprint Genetics in Finland. YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...) View the complete list with 38 more genes Panel GTR000552778 complete gene list YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A, NSDHL, FAT4, LAMC3, MED12, ACTG1, ACTB, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, LAMA2, ISPD, POMT1, DYNC1H1, L1CAM, PHGDH, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, ATP6V0A2, TUBB3 Specificity 2 % Genes 5 %
Autosomal Recessive Primary Microcephaly Type 2 , Sequencing WDR62 Gene. By Reference Laboratory Genetics in Spain. WDR62 Specificity 100 % Genes 5 %
Microcephaly 4, primary, AR (sequence analysis of CASC5 gene). By CGC Genetics in Portugal. KNL1 Specificity 100 % Genes 5 %
Microcephaly, autosomal recessive type 4. By Centogene AG - the Rare Disease Company in Germany. KNL1 Specificity 100 % Genes 5 %
CASC5. By Fulgent Genetics Fulgent Genetics in United States. KNL1 Specificity 100 % Genes 5 %
PHC1. By Institute for Human Genetics University Clinic Freiburg in Germany. PHC1 Specificity 100 % Genes 5 %
Microcephaly, autosomal recessive type 11. By Centogene AG - the Rare Disease Company in Germany. PHC1 Specificity 100 % Genes 5 %
ANKLE2. By Fulgent Genetics Fulgent Genetics in United States. ANKLE2 Specificity 100 % Genes 5 %
MFSD2A. By Fulgent Genetics Fulgent Genetics in United States. MFSD2A Specificity 100 % Genes 5 %
Seckel Syndrome Panel. By Genetic Services Laboratory University of Chicago in United States. NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152, CENPJ Specificity 30 % Genes 14 %
Comprehensive Primordial Dwarfism Panel. By Genetic Services Laboratory University of Chicago in United States. POC1A, LARP7, CRIPT, PLK4, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, TRAIP, CEP63, SASS6, CUL7, RTTN, LIG4 , (...) View the complete list with 8 more genes Panel GTR000500225 complete gene list POC1A, LARP7, CRIPT, PLK4, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, TRAIP, CEP63, SASS6, CUL7, RTTN, LIG4, RBBP8, TRIM37, DNA2, ATR, PCNT, CDK5RAP2, CEP152, CENPJ Specificity 18 % Genes 22 %
Seckel syndrome type 6 (sequence analysis of CEP63 gene). By CGC Genetics in Portugal. CEP63 Specificity 100 % Genes 5 %
Microcephalic primordial dwarfism Comprehensive panel. By Connective Tissue Gene Tests in United States. DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152 , (...) View the complete list with 1 more genes Panel GTR000559187 complete gene list DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152, CENPJ Specificity 15 % Genes 14 %
Microcephalic primordial dwarfism Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152 , (...) View the complete list with 1 more genes Panel GTR000559196 complete gene list DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152, CENPJ Specificity 15 % Genes 14 %
Microcephalic primordial dwarfism NGS panel. By Connective Tissue Gene Tests in United States. DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152 , (...) View the complete list with 1 more genes Panel GTR000559251 complete gene list DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152, CENPJ Specificity 15 % Genes 14 %
Microcephaly CEP63 related. By Centogene AG - the Rare Disease Company in Germany. CEP63 Specificity 100 % Genes 5 %
Seckel syndrome 6. By Centogene AG - the Rare Disease Company in Germany. CEP63 Specificity 100 % Genes 5 %
Single gene testing CEP63. By CeGaT GmbH in Germany. CEP63 Specificity 100 % Genes 5 %
Selected Genetic Syndromes with skeletal involvement Panel. By CeGaT GmbH in Germany. TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15 , (...) View the complete list with 22 more genes Panel GTR000527952 complete gene list TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15, ESCO2, MGP, GDF3, RBBP8, EP300, TBX5, SALL4, FGF10, DNA2, SH3PXD2B, GDF6, ATR, PCNT, CEP152, SALL1, CENPJ, CDKN1C, FGFR2, CREBBP, FGFR3, LMX1B, RECQL4 Specificity 8 % Genes 14 %
Primordial Dwarfism NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CEP63, RBBP8, ATR, PCNT, CEP152, CENPJ Specificity 25 % Genes 14 %
CEP63. By Fulgent Genetics Fulgent Genetics in United States. CEP63 Specificity 100 % Genes 5 %
Comprehensive Short Stature Syndrome Panel. By Blueprint Genetics in Finland. IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...) View the complete list with 55 more genes Panel GTR000552721 complete gene list IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, STAT5B, INSR, RBBP8, B3GAT3, GNAS, TRIM37, EP300, LHX3, LHX4, TBX19, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX3, LZTR1, ACTG1, ACTB, FGD1, CENPJ, GHR, GH1, POU1F1, SHOX, GHRHR, PROP1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, DHCR7, CREBBP, BRAF, FGFR3, HESX1, SOX2, RAF1, OTX2, PITX2, BCS1L Specificity 4 % Genes 14 %
3-M Syndrome / Primordial Dwarfism Panel. By Blueprint Genetics in Finland. POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, RBBP8, TRIM37, ATR , (...) View the complete list with 4 more genes Panel GTR000552668 complete gene list POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, RBBP8, TRIM37, ATR, PCNT, CEP152, CENPJ, BCS1L Specificity 13 % Genes 14 %
Seckel Syndrome Panel. By Blueprint Genetics in Finland. CEP63, RBBP8, ATR, PCNT, CEP152, CENPJ Specificity 50 % Genes 14 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 14 %
Seckel Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CEP63, RBBP8, ATR, CEP152, CENPJ Specificity 60 % Genes 14 %
CEP63 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CEP63 Specificity 100 % Genes 5 %
SYNDROME DE SECKEL: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. NIN, CEP63, RBBP8, DNA2, ATR, CEP152, CENPJ Specificity 43 % Genes 14 %
SECKEL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. CEP63, RBBP8, DNA2, ATR, CEP152, CENPJ Specificity 50 % Genes 14 %
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. CEP63, RBBP8, ATR, CEP152, CENPJ Specificity 60 % Genes 14 %
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CEP63, RBBP8, ATR, PCNT, CEP152, CENPJ Specificity 25 % Genes 14 %
STIL sequencing. By Genetic Services Laboratory University of Chicago in United States. STIL Specificity 100 % Genes 5 %
Holoprosencephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH Specificity 10 % Genes 5 %
Holoprosencephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH Specificity 10 % Genes 5 %
STIL. By Institute for Human Genetics University Clinic Freiburg in Germany. STIL Specificity 100 % Genes 5 %
STIL mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. STIL Specificity 100 % Genes 5 %
Microcephaly 7, primary, AR (sequence analysis of STIL gene). By CGC Genetics in Portugal. STIL Specificity 100 % Genes 5 %
RT-PCR del(1p32)(SIL/TAL1). By CGC Genetics in Portugal. TAL1, STIL Specificity 50 % Genes 5 %
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. STIL Specificity 100 % Genes 5 %
Microcephaly, primary autosomal recessive type 7Microcephaly, primary autosomal recessive type 7. By Centogene AG - the Rare Disease Company in Germany. STIL Specificity 100 % Genes 5 %
STIL. By Fulgent Genetics Fulgent Genetics in United States. STIL Specificity 100 % Genes 5 %
CEP152 sequencing. By Genetic Services Laboratory University of Chicago in United States. CEP152 Specificity 100 % Genes 5 %
CEP152. By Institute for Human Genetics University Clinic Freiburg in Germany. CEP152 Specificity 100 % Genes 5 %
Microcephaly 9, primary, AR (sequence analysis of CEP152 gene). By CGC Genetics in Portugal. CEP152 Specificity 100 % Genes 5 %
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CEP152 Specificity 100 % Genes 5 %
Seckel Syndrome. By Institute of Human Genetics Cologne University in Germany. ATRIP, NIN, RBBP8, DNA2, ATR, CDK5RAP2, CEP152, CENPJ Specificity 38 % Genes 14 %
Microcephaly, autosomal recessive type 9. By Centogene AG - the Rare Disease Company in Germany. CEP152 Specificity 100 % Genes 5 %
Microcephaly, primary, autosomal recessive type 4. By Centogene AG - the Rare Disease Company in Germany. CEP152 Specificity 100 % Genes 5 %
Microcephaly 4, primary, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. CEP152 Specificity 100 % Genes 5 %
Seckel syndrome 5. By Centogene AG - the Rare Disease Company in Germany. CEP152 Specificity 100 % Genes 5 %
CEP152. By Fulgent Genetics Fulgent Genetics in United States. CEP152 Specificity 100 % Genes 5 %
CEP152 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CEP152 Specificity 100 % Genes 5 %
CEP135. By Institute for Human Genetics University Clinic Freiburg in Germany. CEP135 Specificity 100 % Genes 5 %
Microcephaly 8, primary, AR (sequence analysis of CEP135 gene). By CGC Genetics in Portugal. CEP135 Specificity 100 % Genes 5 %
Microcephaly, primary autosomal recessive type 8. By Centogene AG - the Rare Disease Company in Germany. CEP135 Specificity 100 % Genes 5 %
CEP135. By Fulgent Genetics Fulgent Genetics in United States. CEP135 Specificity 100 % Genes 5 %
CENPJ sequencing. By Genetic Services Laboratory University of Chicago in United States. CENPJ Specificity 100 % Genes 5 %
CENPJ. By Institute for Human Genetics University Clinic Freiburg in Germany. CENPJ Specificity 100 % Genes 5 %
CENPJ mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CENPJ Specificity 100 % Genes 5 %
Microcephaly 6, primary, AR (sequence analysis of CENPJ gene). By CGC Genetics in Portugal. CENPJ Specificity 100 % Genes 5 %
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CENPJ Specificity 100 % Genes 5 %
Microcephaly 6, primary, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. CENPJ Specificity 100 % Genes 5 %
Seckel syndrome 4. By Centogene AG - the Rare Disease Company in Germany. CENPJ Specificity 100 % Genes 5 %
Seckel Syndrome 4. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. CENPJ Specificity 100 % Genes 5 %
Microcephaly 6, primary, autosomal recessive. By Praxis fuer Humangenetik Wien in Austria. CENPJ Specificity 100 % Genes 5 %
Seckel syndrome 4. By Praxis fuer Humangenetik Wien in Austria. CENPJ Specificity 100 % Genes 5 %
Microcephaly 6, primary, autosomal recessive. By MedGene in Slovakia. CENPJ Specificity 100 % Genes 5 %
Seckel syndrome 4. By MedGene in Slovakia. CENPJ Specificity 100 % Genes 5 %
CENPJ. By Fulgent Genetics Fulgent Genetics in United States. CENPJ Specificity 100 % Genes 5 %
CENPJ Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CENPJ Specificity 100 % Genes 5 %
CDK5RAP2 sequencing. By Genetic Services Laboratory University of Chicago in United States. CDK5RAP2 Specificity 100 % Genes 5 %
CDK5RAP2. By Institute for Human Genetics University Clinic Freiburg in Germany. CDK5RAP2 Specificity 100 % Genes 5 %
Microcephaly 3, primary, AR (sequence analysis of CDK5RAP2 gene). By CGC Genetics in Portugal. CDK5RAP2 Specificity 100 % Genes 5 %
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CDK5RAP2 Specificity 100 % Genes 5 %
Microcephaly 3, primary, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. CDK5RAP2 Specificity 100 % Genes 5 %
Single gene testing CDK5RAP2. By CeGaT GmbH in Germany. CDK5RAP2 Specificity 100 % Genes 5 %
CDK5RAP2. By Fulgent Genetics Fulgent Genetics in United States. CDK5RAP2 Specificity 100 % Genes 5 %
CIT. By Fulgent Genetics Fulgent Genetics in United States. CIT Specificity 100 % Genes 5 %
NCAPD3. By Fulgent Genetics Fulgent Genetics in United States. NCAPD3 Specificity 100 % Genes 5 %

Alternate names

Microcephaly 1, Primary, Autosomal Recessive; Mcph1 Is also known as premature chromosome condensation with microcephaly and mental retardation, premature chromosome condensation syndrome, pcc syndrome;mcph; microcephalia vera; microcephaly vera; true microcephaly.

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