Panel Name, Specifity and genes Tested/covered |
B4GALT7 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
B4GALT7
Specificity
100 %
Genes
34 %
|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
34 %
|
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories in United States.
ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)
View the complete list with 2 more genes
ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, COL5A1, COL5A2
Specificity
5 %
Genes
34 %
|
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.
By Collagen Diagnostic Laboratory University of Washington in United States.
ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)
View the complete list with 10 more genes
ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, NBAS, B3GAT3, GORAB
Specificity
7 %
Genes
67 %
|
Connective Tissue Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)
View the complete list with 11 more genes
B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ZNF469, TGFB3, B3GALT6
Specificity
4 %
Genes
34 %
|
Familial Aneurysm and Aortopathy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)
View the complete list with 11 more genes
B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ZNF469, TGFB3, B3GALT6
Specificity
4 %
Genes
34 %
|
B4GALT7.
By Institute for Human Genetics University Clinic Freiburg in Germany.
B4GALT7
Specificity
100 %
Genes
34 %
|
Ehlers-Danlos syndrome, progeroid type 1 (sequence analysis of B4GALT7 gene).
By CGC Genetics in Portugal.
B4GALT7
Specificity
100 %
Genes
34 %
|
Ehlers-Danlos syndrome (NGS panel for 12 genes).
By CGC Genetics in Portugal.
B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14
Specificity
9 %
Genes
34 %
|
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)
View the complete list with 25 more genes
ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1, TGFBR2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, EFEMP2, COL12A1, SPARC, B3GAT3, GORAB, C1S, C1R, B3GALT6, GGCX, TNFRSF1A, RIN2, CHST3, DSE, FLNB, ATP6AP1, LZTS1, ATP6V1A, AEBP1, ATP6V1E1
Specificity
7 %
Genes
100 %
|
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)
View the complete list with 238 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH, SERPINF1, SP7, SLC39A13, COG1, P3H1, CRTAP, PLOD2, SQSTM1, AGPS, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, COL5A1, COL5A2, FGFR3, COL10A1, CREBBP, PLOD1, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, GPC3, SBDS, PRKAR1A, ADAMTS2, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PROK2, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, ANKRD11, FGD1, LBR, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, WDR35, CANT1, PTH1R, EBP, NSDHL, RAB23, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFBR1, TGFBR2, SKI, FBN2, FKBP14, TNXB, CHST14, ZNF469, ACVR1, NFIX, GLI3, TP63, GDF6, IFT140, CDH3, BMPR1B, WDR19, PIEZO2, PITX1, ZMPSTE24, RIPK4, FGF10, LHX4, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, ASXL1, SH3BP2, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB, TTC21B, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, HOXA11, FREM1, ALX1, GDF3, EXT2, EXT1, MGP, SMARCAL1, TCTN3, AFF4, SRCAP, CEP120, WNT5A, RIN2, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, WNT7A, CCNQ, IRF6, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, MEGF8, ERF, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, OBSL1, CCDC8, FAM111A, ENPP1, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, HES7, LFNG, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, HPGD, PTHLH, GDF5, TRAPPC2, MATN3, MEOX1, HDAC4, TBX3, DDR2, EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2, TBX4, TXNL4A, NPPC, SULF1, COL27A1, DDX59, TGDS
Specificity
1 %
Genes
67 %
|
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive.
By Connective Tissue Gene Tests in United States.
ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
34 %
|
Ehlers-Danlos syndrome, progeroid type, Comprehensive panel.
By Connective Tissue Gene Tests in United States.
B4GALT7, B3GALT6
Specificity
50 %
Genes
34 %
|
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
34 %
|
Ehlers-Danlos syndrome, progeroid type, NGS panel.
By Connective Tissue Gene Tests in United States.
B4GALT7, B3GALT6
Specificity
50 %
Genes
34 %
|
Ehlers-Danlos syndrome, progeroid type, Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
B4GALT7, B3GALT6
Specificity
50 %
Genes
34 %
|
Ehlers-Danlos syndrome Comprehensive panel - Recessive.
By Connective Tissue Gene Tests in United States.
ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
34 %
|
Ehlers-Danlos syndrome NGS panel - Recessive.
By Connective Tissue Gene Tests in United States.
ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
34 %
|
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
34 %
|
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
34 %
|
Progeroid syndromes and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)
View the complete list with 1 more genes
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1, SLC25A24
Specificity
5 %
Genes
34 %
|
Progeroid syndromes and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)
View the complete list with 1 more genes
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1, SLC25A24
Specificity
5 %
Genes
34 %
|
Progeroid syndromes and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)
View the complete list with 1 more genes
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1, SLC25A24
Specificity
5 %
Genes
34 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
34 %
|
Marfan syndrome, EDS and other connective tissue disorders - different panels.
By Institute of Human Genetics Cologne University in Germany.
B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)
View the complete list with 17 more genes
B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, TNXB, CHST14, EFEMP2, TGFB3, PRKG1, MFAP5, MAT2A, B3GALT6, DSE, GATA5
Specificity
3 %
Genes
34 %
|
Ehlers-Danlos Syndrome (EDS).
By MGZ Medical Genetics Center in Germany.
B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469
Specificity
8 %
Genes
34 %
|
Vascular and connective tissue diseases - panels.
By MGZ Medical Genetics Center in Germany.
TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)
View the complete list with 47 more genes
TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA, PLOD1, ENG, ADAMTS2, NOTCH3, AGRN, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, AGTR2, AFF2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ABCC6, ZNF469, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, EFEMP2, BMPR2, TGFB3, ADCY6, ADAR, PRKG1, MFAP5, MAT2A, ADA2, ADAMTSL4, COL4A2, CST3, AIMP1, JAM3
Specificity
2 %
Genes
34 %
|
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.
By CeGaT GmbH in Germany.
ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)
View the complete list with 24 more genes
ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ABCC6, ZNF469, EFEMP2, LTBP4, TGFB3, PRKG1, MFAP5, GORAB, MAT2A, B3GALT6, RIN2, DSE
Specificity
3 %
Genes
34 %
|
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.
By CeGaT GmbH in Germany.
ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)
View the complete list with 24 more genes
ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ABCC6, ZNF469, EFEMP2, LTBP4, TGFB3, PRKG1, MFAP5, GORAB, MAT2A, B3GALT6, RIN2, DSE
Specificity
3 %
Genes
34 %
|
Progeria syndromes Panel.
By CeGaT GmbH in Germany.
RECQL4, B4GALT7, PYCR1, ALDH18A1, BLM, LMNA, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, POLD1, ERCC8, PTDSS1, WRN, ERCC5, GTF2H5, BANF1
Specificity
6 %
Genes
34 %
|
Chondrodysplasia punctata Panel.
By CeGaT GmbH in Germany.
FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...)
View the complete list with 2 more genes
FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB
Specificity
5 %
Genes
34 %
|
Recessive EDS panel.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, CHST14, B3GAT3, B3GALT6, DSE, XYLT1
Specificity
20 %
Genes
67 %
|
B4GALT7 mutational analysis.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
B4GALT7
Specificity
100 %
Genes
34 %
|
Cardiovascular Diseases_General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)
View the complete list with 360 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B, ELN, EYA4, CPT2, WFS1, GNPTAB, GLB1, FOXC1, PITX2, JAG1, NPHP4, PCDH15, DSP, DLD, SLC25A4, GCK, FOXRED1, CRYAB, RAF1, OPA3, FBN1, MTO1, MRPL3, LIAS, GPD1, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, SLC39A13, MRPS22, SLC25A3, PNPLA2, TSFM, DNAJC19, GFM1, MEF2A, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, PYGM, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, COL5A1, COL5A2, SDHA, DOLK, BRAF, CHD7, CREBBP, DMD, FOXF1, GLA, HRAS, KRAS, LDLR, LEP, LIPA, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, BMPR1A, SMAD4, ENG, ADAMTS2, FKTN, MTTP, SGCA, SGCB, CAPN3, LMNA, PSEN2, APOE, NOTCH3, FKRP, CAV3, NF1, CEL, KCNJ11, INS, PDX1, HNF4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, RYR1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KMT2D, CACNA2D1, KANSL1, TBX1, CACNA1D, KCNE1, KCNQ1, MED12, FOXP1, EHMT1, CACNA1C, CTNNB1, LZTR1, RASA1, FOXP3, LAMP2, UPF3B, ZDHHC9, SPRED1, RASA2, RRAS, A2ML1, ABCB1, NODAL, FOXH1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, CHST14, ACVR1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, EFEMP2, KCNA5, BMPR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, AMPD1, TOR1AIP1, SPEG, VCL, ZMPSTE24, PRKG1, MFAP5, NOS1AP, SALL4, TBX5, EP300, GJA1, FHL2, B3GAT3, ABCG5, ABCG8, CYP2D6, OBSCN, TXNRD2, TMPO, ZIC3, GDF1, GATA4, EVC, IER3IP1, NPC1L1, CITED2, LEFTY2, CRELD1, ACVR2B, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, PDGFRA, INSR, CFC1, XK, TDGF1, COL7A1, NPPA, GJA5, NOTCH2, TBC1D4, CIDEC, PLIN1, AGPAT2, ZFPM2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, ADAMTSL4, GATA5, APOC3, LIPC, PLTP, CHRM2, CAVIN4, SLCO1B1, EIF2AK4, TBX20, MIB1, CALR3, ASPH, CALM3, MYLIP, SAR1B, TFAP2B, SMAD6, TAB2, TNNI3K, CYP3A4, INSIG2, LRP6, PKP4, KLF10, TRIM63, COA6, MED13L, KCND2, MRPL44, NKX2-6, CYP3A5, MCTP2, IRX4, SMAD1, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, SLC22A8, LPA, MYOM1, PPARA, NNT, SLC25A40, HAND2, GREM2, ISL1, TOPBP1, TRIB1, BMP10, CH25H
Specificity
1 %
Genes
67 %
|
EHLERS-DANLOS, SYNDROME.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB, CHST14
Specificity
10 %
Genes
34 %
|
Congenital disorder of O-linked glycosylation (CDG).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)
View the complete list with 9 more genes
B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1, MESP2, HES7, LFNG, CHST3, DLL3, GALNT3, SLC35D1, KL, XYLT1
Specificity
11 %
Genes
100 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).
By Genome Diagnostics VU University Medical Center in Netherlands.
B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
15 %
Genes
100 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.
By Genome Diagnostics VU University Medical Center in Netherlands.
B4GALT7, COL1A1, COL1A2, FBN1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)
View the complete list with 1 more genes
B4GALT7, COL1A1, COL1A2, FBN1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
15 %
Genes
100 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).
By Genome Diagnostics VU University Medical Center in Netherlands.
B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
15 %
Genes
100 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.
By Genome Diagnostics VU University Medical Center in Netherlands.
B4GALT7, COL1A1, COL1A2, COL3A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)
View the complete list with 1 more genes
B4GALT7, COL1A1, COL1A2, COL3A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
15 %
Genes
100 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA.
By Genome Diagnostics VU University Medical Center in Netherlands.
B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)
View the complete list with 1 more genes
B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
15 %
Genes
100 %
|
Congenital Disorders of Glycosylation: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)
View the complete list with 46 more genes
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3, SLC35C1, MGAT2, PMM2, DOLK, DPAGT1, MOGS, FKTN, POMGNT1, FKRP, POMT2, POMT1, GFPT1, LARGE1, ST3GAL5, ALG13, PIGO, ST3GAL3, PIGA, PIGV, CHSY1, SEC23B, CHST14, CHST6, B3GAT3, COG4, ALG11, COG6, COG5, TMEM165, B3GLCT, EXT2, EXT1, PIGL, ALG14, MAN1B1, LFNG, CHST3, GALNT3, SLC35D1, NGLY1, RPN2, PIGM
Specificity
5 %
Genes
100 %
|
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)
View the complete list with 14 more genes
ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX, FGF23, ANO5, ZMPSTE24, GNAS, SERPINH1, GORAB, TREM2, NOTCH2, ENPP1, CLCN5, SLC34A3, DMP1, MMP2, MAFB
Specificity
3 %
Genes
34 %
|
Skeletal Dysplasia: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)
View the complete list with 143 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, TCTN3, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1
Specificity
2 %
Genes
67 %
|
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)
View the complete list with 45 more genes
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3, SLC35C1, MGAT2, PMM2, DOLK, DPAGT1, MOGS, FKTN, POMGNT1, FKRP, POMT2, POMT1, GFPT1, LARGE1, ST3GAL5, ALG13, PIGO, ST3GAL3, PIGA, PIGV, CHSY1, SEC23B, CHST14, CHST6, B3GAT3, COG4, ALG11, COG6, COG5, TMEM165, B3GLCT, EXT2, EXT1, PIGL, ALG14, MAN1B1, LFNG, CHST3, GALNT3, SLC35D1, NGLY1, RPN2, PIGM
Specificity
5 %
Genes
100 %
|
Skeletal Dysplasias NGS panel.
By Fulgent Genetics Fulgent Genetics in United States.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)
View the complete list with 141 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1
Specificity
2 %
Genes
67 %
|
B4GALT7.
By Fulgent Genetics Fulgent Genetics in United States.
B4GALT7
Specificity
100 %
Genes
34 %
|
Progeria and Progeroid Syndromes Panel.
By Blueprint Genetics in Finland.
RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
34 %
|
Osteogenesis Imperfecta Panel.
By Blueprint Genetics in Finland.
ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)
View the complete list with 7 more genes
ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, CLCN5, SLC34A3
Specificity
8 %
Genes
67 %
|
Ehlers-Danlos Syndrome Panel.
By Blueprint Genetics in Finland.
ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)
View the complete list with 12 more genes
ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1, TGFB2, SMAD3, TGFBR1, TGFBR2, FBN2, FKBP14, CHST14, ABCC6, ZNF469, EFEMP2, BGN, DSE
Specificity
4 %
Genes
34 %
|
Comprehensive Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)
View the complete list with 226 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, ARSB, FGFR3, FANCC, COL10A1, CREBBP, IDS, PTPN11, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PEX7, SLC26A2, TRPV4, LMNA, NF1, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, ANKRD11, SETBP1, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, KAT6B, WDR35, CANT1, PTH1R, FANCB, EBP, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, GNAS, GJA1, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, AKT1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, MATN3, TBX3, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L
Specificity
2 %
Genes
100 %
|
Skeletal Dysplasia with Abnormal Mineralization Panel.
By Blueprint Genetics in Finland.
ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)
View the complete list with 12 more genes
ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR, CASR, PHEX, FGF23, SOX9, PLS3, MGP, PTDSS1, ENPP1, CLCN5, SLC34A3, GALNT3, SNX10
Specificity
4 %
Genes
34 %
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)
View the complete list with 288 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, PITX2, OTX2, RAF1, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, SOX2, HESX1, LMX1B, COL5A1, COL5A2, ARSB, FGFR3, FANCC, BRAF, COL10A1, CREBBP, DHCR7, HRAS, IDS, KRAS, MAP2K1, NRAS, PTPN11, RMRP, RUNX2, SHOC2, SOS1, VDR, FGFR2, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PROP1, PEX7, SLC26A2, TRPV4, LMNA, NF1, GHRHR, FGFR1, SHOX, CASR, POU1F1, GH1, GHR, PHEX, FGF23, ANO5, HSPG2, CENPJ, FLNA, ANKRD11, FGD1, SETBP1, LBR, ACTB, ACTG1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, LZTR1, PEX14, PEX19, KAT6B, WDR35, CANT1, PTH1R, MBTPS2, FANCB, EBP, SOX3, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, TRIM37, GNAS, GJA1, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, RBBP8, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, INSR, AKT1, EXT2, EXT1, STAT5B, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, SRCAP, CSPP1, WNT5A, RTTN, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, CCNQ, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CEP63, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, IGF1, MATN3, TBX3, IGF1R, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IGFALS, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L, IRS1
Specificity
1 %
Genes
100 %
|
EHLERS-DANLOS SYNDROME, PROGEROID TYPE.
By Laboratorio de Genetica Clinica SL in Spain.
B4GALT7, B3GALT6
Specificity
50 %
Genes
34 %
|
EHLERS-DANLOS SYNDROME: NGS PANEL-2.
By Laboratorio de Genetica Clinica SL in Spain.
B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, TNXB, CHST14, B3GALT6, DSE
Specificity
7 %
Genes
34 %
|
Ehlers-Danlos Syndrome Progeroid Type , Sequencing B4GALT7 Gene.
By Reference Laboratory Genetics in Spain.
B4GALT7
Specificity
100 %
Genes
34 %
|
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes.
By Reference Laboratory Genetics in Spain.
B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14, B3GALT6
Specificity
8 %
Genes
34 %
|
CHST3 - Spondyloepiphyseal dysplasia with congenital joint dislocations.
By Centre of Molecular Diseases (CMM) CHUV in Switzerland.
CHST3
Specificity
100 %
Genes
34 %
|
CHST3. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
CHST3
Specificity
100 %
Genes
34 %
|
Spondyloepiphyseal Dysplasia, Omani type (sequence analysis of CHST3 gene).
By CGC Genetics in Portugal.
CHST3
Specificity
100 %
Genes
34 %
|
Desbuquois dysplasia and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
SLC26A2, CANT1, B3GAT3, B3GALT6, CHST3, IMPAD1, FLNB, XYLT1, KIF22, GZF1, CSGALNACT1
Specificity
19 %
Genes
67 %
|
Desbuquois dysplasia and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
SLC26A2, CANT1, B3GAT3, B3GALT6, CHST3, IMPAD1, FLNB, XYLT1, KIF22, GZF1, CSGALNACT1
Specificity
19 %
Genes
67 %
|
Desbuquois dysplasia and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
SLC26A2, CANT1, B3GAT3, B3GALT6, CHST3, IMPAD1, FLNB, XYLT1, KIF22, GZF1, CSGALNACT1
Specificity
19 %
Genes
67 %
|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)
View the complete list with 34 more genes
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1
Specificity
4 %
Genes
67 %
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.
By Connective Tissue Gene Tests in United States.
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)
View the complete list with 34 more genes
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1
Specificity
4 %
Genes
67 %
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel.
By Connective Tissue Gene Tests in United States.
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)
View the complete list with 34 more genes
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1
Specificity
4 %
Genes
67 %
|
Spondyloepiphyseal dysplasia with congenital joint dislocations.
By Centogene AG - the Rare Disease Company in Germany.
CHST3
Specificity
100 %
Genes
34 %
|
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.
By CeGaT GmbH in Germany.
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)
View the complete list with 7 more genes
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, PCYT1A, XYLT1, PAPSS2, KIF22, POP1
Specificity
4 %
Genes
34 %
|
Spondyloepiphyseal dysplasia with congenital joint dislocation.
By Praxis fuer Humangenetik Wien in Austria.
CHST3
Specificity
100 %
Genes
34 %
|
Spondyloepiphyseal dysplasia with congenital joint dislocation.
By MedGene in Slovakia.
CHST3
Specificity
100 %
Genes
34 %
|
Disproportionate Short Stature: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)
View the complete list with 65 more genes
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, ARSE, CUL7, OBSL1, TBCE, MESP2, HES7, LFNG, GPC6, CHST3, NKX3-2, DLL3, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, TBX6, PAPSS2, ACAN, KIF22, SULF1
Specificity
2 %
Genes
34 %
|
Disproportionate Short Stature: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)
View the complete list with 56 more genes
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, CUL7, OBSL1, TBCE, GPC6, CHST3, NKX3-2, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, PAPSS2, KIF22, SULF1
Specificity
2 %
Genes
34 %
|
CHST3.
By Fulgent Genetics Fulgent Genetics in United States.
CHST3
Specificity
100 %
Genes
34 %
|
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.
By Blueprint Genetics in Finland.
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)
View the complete list with 8 more genes
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, PCYT1A, PAPSS2, ACAN, KIF22, LONP1
Specificity
4 %
Genes
34 %
|
Skeletal Dysplasias Core Panel.
By Blueprint Genetics in Finland.
ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)
View the complete list with 91 more genes
ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2, TCIRG1, PPIB, TNFRSF11B, LMX1B, FGFR3, COL10A1, RMRP, RUNX2, VDR, FGFR2, CDKN1C, SMAD4, SBDS, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PHEX, FGF23, HSPG2, FLNA, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, KAT6B, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, ADAMTSL2, DYM, IFT140, LTBP2, BMPR1B, WDR19, GNPAT, PLS3, BMP1, SERPINH1, TTC21B, IFT80, EVC, EVC2, B3GALT6, EIF2AK3, DHCR24, SMARCAL1, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, ROR2, NEK1, ARSE, CUL7, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, ENPP1, SLC34A3, WISP3, CHST3, DLL3, ACP5, FLNB, LIFR, TRIP11, ADAMTS10, GDF5, TRAPPC2, MATN3, INPPL1, MMP9, NPR2, IHH, XYLT1, DVL1, PAPSS2, ACAN
Specificity
1 %
Genes
34 %
|
Spondyloepiphyseal dysplasia with congenital joint dislocations.
By Bioarray in Spain.
CHST3
Specificity
100 %
Genes
34 %
|
LARSEN SYNDROME (AUTOSOMAL RECESSIVE).
By Laboratorio de Genetica Clinica SL in Spain.
CHST3
Specificity
100 %
Genes
34 %
|
Chondrodysplasia with Joints Dislocations, Sequencing CHST3 Gene.
By Reference Laboratory Genetics in Spain.
CHST3
Specificity
100 %
Genes
34 %
|
Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes.
By Reference Laboratory Genetics in Spain.
CANT1, B3GAT3, CHST3, IMPAD1, FLNB
Specificity
40 %
Genes
67 %
|
Connective Tissue Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)
View the complete list with 15 more genes
FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, EFEMP2, TGFB3, MFAP5, B3GAT3, MAT2A, SMAD2, LOX, GATA5, SMAD6
Specificity
3 %
Genes
34 %
|
Connective Tissue Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)
View the complete list with 16 more genes
FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, EFEMP2, TGFB3, MFAP5, B3GAT3, MAT2A, SMAD2, LOX, GATA5, SMAD6
Specificity
3 %
Genes
34 %
|
Connective Tissue Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)
View the complete list with 16 more genes
FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, EFEMP2, TGFB3, MFAP5, B3GAT3, MAT2A, SMAD2, LOX, GATA5, SMAD6
Specificity
3 %
Genes
34 %
|
Larsen Syndrome (sequence analysis of B3GAT3 gene).
By CGC Genetics in Portugal.
B3GAT3
Specificity
100 %
Genes
34 %
|
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects.
By Centogene AG - the Rare Disease Company in Germany.
B3GAT3
Specificity
100 %
Genes
34 %
|
B3GAT3 mutational analysis.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
B3GAT3
Specificity
100 %
Genes
34 %
|
Aortic diseases Panel.
By Health in Code in Spain.
GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)
View the complete list with 15 more genes
GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, KCNJ8, EFEMP2, TGFB3, NKX2-5, PRKG1, B3GAT3, ADAMTSL4, GATA5
Specificity
3 %
Genes
34 %
|
B3GAT3.
By Fulgent Genetics Fulgent Genetics in United States.
B3GAT3
Specificity
100 %
Genes
34 %
|
Comprehensive Short Stature Syndrome Panel.
By Blueprint Genetics in Finland.
BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)
View the complete list with 55 more genes
BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, PROP1, GHRHR, SHOX, POU1F1, GH1, GHR, CENPJ, FGD1, ACTB, ACTG1, LZTR1, SOX3, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, TBX19, LHX4, LHX3, EP300, TRIM37, GNAS, B3GAT3, RBBP8, INSR, STAT5B, NOTCH2, SRCAP, RTTN, CUL7, CEP63, CDC45, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, IGF1, TBX3, IGF1R, IGFALS, IRS1
Specificity
2 %
Genes
34 %
|
Congenital Structural Heart Disease Panel.
By Blueprint Genetics in Finland.
ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)
View the complete list with 42 more genes
ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL, NOTCH1, ACTA2, ACVR1, BMPR2, ACTC1, NKX2-5, SALL4, TBX5, EFTUD2, PPP1CB, CTC1, GJA1, B3GAT3, ZIC3, GDF1, GATA4, MYCN, LEFTY2, CRELD1, ACVR2B, GATA6, ABL1, GJA5, NOTCH2, ZFPM2, GATA5, EIF2AK4, ADAMTS10, TBX20, TFAP2B, TAB2, ADAMTS17, TGDS, CHD4, NAA15, NR2F2, NKX2-6, MEIS2, PRKD1, TLL1, HAND1, CDK13
Specificity
2 %
Genes
34 %
|
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects; Jdscd Is also known as larsen syndrome, autosomal recessive, formerly;multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome.