| Panel Name, Specifity and genes Tested/covered |
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
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
3 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3 , (...)
View the complete list with 94 more genes
THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, OGT, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
1 %
Genes
50 %
|
NGS Skeletal Dysplasia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
SOX9, COMP, FLNA, HSPG2, TRPV4, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1
Specificity
20 %
Genes
100 %
|
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
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
1 %
Genes
50 %
|
FLNA-related disorders.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
FLNA
Specificity
100 %
Genes
50 %
|
periventricular heterotopia, Ehlers-Danlos variant.
By Center for Human Genetics, Inc in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Connective Tissue Disorders 22-gene panel.
By Center for Human Genetics, Inc in United States.
NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2 , (...)
View the complete list with 2 more genes
NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2, COL1A1, COL2A1
Specificity
10 %
Genes
100 %
|
Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)
View the complete list with 92 more genes
TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR
Specificity
1 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
Connective Tissue Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)
View the complete list with 11 more genes
B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
7 %
Genes
100 %
|
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
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
2 %
Genes
50 %
|
Familial Aneurysm and Aortopathy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)
View the complete list with 11 more genes
B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
7 %
Genes
100 %
|
Platelet Disorders.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, STIM1, TBXAS1, VIPAS39, USF1, P2RY12, KLKB1, P2RX1, PLA2G7, MLPH, FGG, VPS33B , (...)
View the complete list with 35 more genes
MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, STIM1, TBXAS1, VIPAS39, USF1, P2RY12, KLKB1, P2RX1, PLA2G7, MLPH, FGG, VPS33B, TBXA2R, RAB27A, GNAQ, MYO5A, GGCX, FGB, FGA, GP6, FERMT3, ADRA2A, ANO6, A2M, DHCR24, GP1BA, ABCA1, F8, GNAS, VWF, LYST, BLOC1S6, GATA1, MYH9, FLNA, WAS, MPL, DPAGT1, ANKRD26, AP3B1, HPS3, HPS4, HPS5, HPS6, HPS1, DTNBP1, RUNX1
Specificity
2 %
Genes
50 %
|
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)
View the complete list with 68 more genes
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
50 %
|
X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)
View the complete list with 68 more genes
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
50 %
|
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)
View the complete list with 67 more genes
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
50 %
|
Thoracic Aortic Aneurysm Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FLNA, CBS, FBN1, COL3A1
Specificity
8 %
Genes
50 %
|
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
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
50 %
|
Thrombocytopenia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RUNX1T1, SLFN14, CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8 , (...)
View the complete list with 23 more genes
GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RUNX1T1, SLFN14, CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, VWF, TERT, TERC, GATA1, MYH9, FLNA, WAS, MPL, GATA2, ANKRD26, CYCS
Specificity
3 %
Genes
50 %
|
Hypospadias Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)
View the complete list with 41 more genes
PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2, EVC, EFNB1, SRD5A2, FGF10, NR5A1, FBXL4, TP63, GLI3, PCNT, WDR35, FAT4, MED12, MID1, SALL1, ZEB2, SETBP1, ATRX, FLNA, FGFR1, FIG4, PEX1, HBA1, GPC3, CDKN1C, FGFR2, PTPN11, DHCR7, CREBBP, ARX, AR, FGFR3, SOX2, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, MKKS, PITX2, HNF1B, WT1
Specificity
2 %
Genes
50 %
|
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...)
View the complete list with 153 more genes
CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR, NRXN2, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD2, PGAP1, ARID1A, SMARCB1, SMARCA4, SOX11, DNMT3A, PCNT, NSUN2, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, MED12, MID1, ADNP, PTCHD1, PRPS1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, DYRK1A, GRIN1, NRXN1, ST3GAL3, NEXMIF, PURA, SRPX2, FLNA, PQBP1, DCX, DEAF1, MBD5, GRIN2A, GRIN2B, SCN2A, DYNC1H1, KIF1A, L1CAM, SMC1A, SYNGAP1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, ZNF407, ADAT3, CLIP1, CRADD, EZR, FBXO31, FMN2, WASHC4, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CDKL5, ARX, SLC6A8, L2HGDH, ALDH5A1, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, D2HGDH, ALG6, TUSC3, TUBA1A, STXBP1, IDH2, MECP2, NHS, HPRT1, OCRL, HSD17B10, UBE3A, FMR1
Specificity
1 %
Genes
50 %
|
X-linked Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15 , (...)
View the complete list with 59 more genes
ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, L1CAM, SMC1A, PLP1, PCDH19, CDKL5, ARX, SLC6A8, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, MECP2, NHS, HPRT1, OCRL, HSD17B10, FMR1
Specificity
2 %
Genes
50 %
|
Craniofacial Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)
View the complete list with 11 more genes
ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FLNA, FGFR1, FGFR2, RUNX2, FGFR3, FAM20C, RECQL4
Specificity
4 %
Genes
50 %
|
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
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
50 %
|
Craniofacial Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)
View the complete list with 11 more genes
ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FLNA, FGFR1, FGFR2, RUNX2, FGFR3, FAM20C, RECQL4
Specificity
4 %
Genes
50 %
|
Thrombocytopenia Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46 , (...)
View the complete list with 23 more genes
CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, VWF, TERT, TERC, GATA1, MYH9, FLNA, WAS, MPL, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, GATA2, ANKRD26, CYCS, RUNX1
Specificity
3 %
Genes
50 %
|
FLNA.
By Institute for Human Genetics University Clinic Freiburg in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)
View the complete list with 19 more genes
TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35, LBR, FLNA, HSPG2, FGFR1, TRPV4, SLC26A2, PEX7, FGFR2, RUNX2, FGFR3, PPIB, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, FKBP10, ALPL
Specificity
6 %
Genes
100 %
|
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)
View the complete list with 19 more genes
TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35, LBR, FLNA, HSPG2, FGFR1, TRPV4, SLC26A2, PEX7, FGFR2, RUNX2, FGFR3, PPIB, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, FKBP10, ALPL
Specificity
6 %
Genes
100 %
|
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
PRKG1, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1 , (...)
View the complete list with 1 more genes
PRKG1, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, COL3A1
Specificity
5 %
Genes
50 %
|
Comprehensive Brain Malformations Panel.
By GeneDx in United States.
OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8 , (...)
View the complete list with 24 more genes
OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E, TUBB3
Specificity
3 %
Genes
50 %
|
Cortical Brain Malformations Panel.
By GeneDx in United States.
OCLN, VLDLR, EOMES, LAMC3, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, FKRP, POMGNT1 , (...)
View the complete list with 4 more genes
OCLN, VLDLR, EOMES, LAMC3, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN, ARX, TUBA1A, TUBB3
Specificity
5 %
Genes
50 %
|
Marfan/TAAD Sequencing Panel.
By GeneDx in United States.
MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
7 %
Genes
50 %
|
Marfan/TAAD Sequencing & Del/Dup Panel.
By GeneDx in United States.
MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
7 %
Genes
50 %
|
Connective Tissue Disorders Panel.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.
ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1 , (...)
View the complete list with 30 more genes
ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ADAMTSL2, MED12, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, PKD2, ADAMTS2, SMAD4, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5, ATP7A
Specificity
4 %
Genes
100 %
|
COL3A1 gene sequence and deletion/duplication reflex TAADNext.
By Ambry Genetics in United States.
PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)
View the complete list with 2 more genes
PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
5 %
Genes
50 %
|
CustomNext: Neuro.
By Ambry Genetics in United States.
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)
View the complete list with 176 more genes
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
50 %
|
CustomNext: Cardio.
By Ambry Genetics in United States.
TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)
View the complete list with 86 more genes
TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR
Specificity
1 %
Genes
50 %
|
Neurodevelopment-Expanded.
By Ambry Genetics in United States.
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)
View the complete list with 176 more genes
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
50 %
|
TAADNext.
By Ambry Genetics in United States.
PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)
View the complete list with 2 more genes
PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
5 %
Genes
50 %
|
EpilepsyNext.
By Ambry Genetics in United States.
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)
View the complete list with 80 more genes
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A
Specificity
1 %
Genes
50 %
|
EpiRapid reflex EpilepsyNext.
By Ambry Genetics in United States.
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)
View the complete list with 80 more genes
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A
Specificity
1 %
Genes
50 %
|
FBN1 gene sequence and deletion/duplication reflex TAADNext.
By Ambry Genetics in United States.
PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)
View the complete list with 2 more genes
PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
5 %
Genes
50 %
|
IDNext.
By Ambry Genetics in United States.
KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)
View the complete list with 120 more genes
KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, NEXMIF, PURA, DNM1, HNRNPU, FLNA, PQBP1, DCX, DEPDC5, ALG13, MBD5, GRIN2A, CHD2, PNPO, HCN1, GRIN2B, FOLR1, STX1B, SCN2A, DYNC1H1, KIF1A, L1CAM, CACNA1A, PPT1, GPC3, NSD1, NIPBL, SMC1A, SMC3, SYNGAP1, RAD21, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, CREBBP, CHD7, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, SLC25A22, TUSC3, GATM, GAMT, MECP2, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
50 %
|
FLNA. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
FLNA. Sequencing of the exons 3, 4, 5, 11, 22, 28 and 29.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
FLNA. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Neonatal Respiratory Distress Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
50 %
|
Neonatal Respiratory Distress Seq + Del/ Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
50 %
|
Neonatal Respiratory Distress Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
50 %
|
Congenital Diarrhea Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...)
View the complete list with 1 more genes
SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM
Specificity
5 %
Genes
50 %
|
Connective Tissue Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)
View the complete list with 15 more genes
SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, COL4A5, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, COL3A1, COL1A2, COL1A1, FBLN5
Specificity
6 %
Genes
100 %
|
Comprehensive Pulmonary-Vascular Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)
View the complete list with 45 more genes
HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS
Specificity
2 %
Genes
50 %
|
Comprehensive Pulmonary-Vascular Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)
View the complete list with 44 more genes
HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS
Specificity
2 %
Genes
50 %
|
Connective Tissue Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)
View the complete list with 16 more genes
SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, COL4A5, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, ELN, COL3A1, COL1A2, COL1A1, FBLN5
Specificity
6 %
Genes
100 %
|
Connective Tissue Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)
View the complete list with 16 more genes
SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, COL4A5, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, ELN, COL3A1, COL1A2, COL1A1, FBLN5
Specificity
6 %
Genes
100 %
|
Congenital Diarrhea Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...)
View the complete list with 1 more genes
SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM
Specificity
5 %
Genes
50 %
|
Congenital Diarrhea Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...)
View the complete list with 1 more genes
SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM
Specificity
5 %
Genes
50 %
|
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)
View the complete list with 44 more genes
HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS
Specificity
2 %
Genes
50 %
|
Periventricular Heterotopia, X-Linked (sequence analysis of FLNA gene).
By CGC Genetics in Portugal.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome (deletion/duplication analysis on FLNA gene).
By CGC Genetics in Portugal.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome (sequence analysis of FLNA gene).
By CGC Genetics in Portugal.
FLNA
Specificity
100 %
Genes
50 %
|
Mental retardation, X-linked (NGS panel for 89 genes).
By CGC Genetics in Portugal.
KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7 , (...)
View the complete list with 69 more genes
KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, IGBP1, PHF8, NLGN4X, AP1S2, MED12, MID1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
50 %
|
Periventricular heterotopia (deletions/duplications analysis of FLNA gene).
By CGC Genetics in Portugal.
FLNA
Specificity
100 %
Genes
50 %
|
Periventricular nodular heterotopia (NGS panel of 8 genes).
By CGC Genetics in Portugal.
DCHS1, LRP2, ERMARD, NEDD4L, FAT4, FLNA, ARFGEF2, FMR1
Specificity
13 %
Genes
50 %
|
Periventricular heterotopia (deletions/duplications analysis of FLNA gene).
By CGC Genetics in Portugal.
FLNA
Specificity
100 %
Genes
50 %
|
Periventricular nodular heterotopia (NGS panel of 8 genes).
By CGC Genetics in Portugal.
DCHS1, LRP2, ERMARD, NEDD4L, FAT4, FLNA, ARFGEF2, FMR1
Specificity
13 %
Genes
50 %
|
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
LOX, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, SMS , (...)
View the complete list with 10 more genes
LOX, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, SMS, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, FBLN5
Specificity
4 %
Genes
50 %
|
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ATP6V1E1, AEBP1, ATP6V1A, LZTS1, ATP6AP1, FLNB, DSE, CHST3, RIN2, TNFRSF1A, GGCX, B3GALT6, C1R, C1S, GORAB, B3GAT3, SPARC, COL12A1, EFEMP2, ZNF469 , (...)
View the complete list with 25 more genes
ATP6V1E1, AEBP1, ATP6V1A, LZTS1, ATP6AP1, FLNB, DSE, CHST3, RIN2, TNFRSF1A, GGCX, B3GALT6, C1R, C1S, GORAB, B3GAT3, SPARC, COL12A1, EFEMP2, ZNF469, CHST14, TNXB, PRDM5, FKBP14, TGFBR2, TGFBR1, SMAD3, ADAMTSL2, FLNA, ADAMTS2, PLP1, PLOD1, COL5A2, COL5A1, SLC39A13, ALDH18A1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, FBLN5, B4GALT7, ATP7A
Specificity
5 %
Genes
100 %
|
Bleeding Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36 , (...)
View the complete list with 41 more genes
LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, TBXAS1, P2RY12, P2RX1, FGG, TBXA2R, GGCX, FGB, FGA, GP6, ANO6, GP1BA, ABCG8, ABCG5, ADAMTS13, F8, F9, VWF, F11, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, AP3B1, CYCS, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, RUNX1, F5, F2
Specificity
2 %
Genes
50 %
|
Congenital Limb Malformation Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...)
View the complete list with 49 more genes
LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP, RBM8A, GREM1, MYCN, KIF7, RPGRIP1L, THPO, ERCC4, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, GNAS, TBX5, SALL4, FGF10, PITX1, BMPR1B, CDH3, TP63, GLI3, NOTCH1, DYM, SOX9, NSDHL, CHSY1, SALL1, PIGV, FLNA, FIG4, RAD51C, BRIP1, PALB2, NIPBL, FGFR2, FGFR3, MKS1, DHODH, SHH, CEP290, CC2D2A, COL2A1, RECQL4, BRCA2
Specificity
2 %
Genes
50 %
|
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A , (...)
View the complete list with 108 more genes
USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A, MID2, ARSE, BCORL1, HNRNPH2, PGK1, KDM6A, THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, FAAH2, EIF2S3, LAS1L, IL1RAPL1, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, ZNF711, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, PIGA, WDR45, NEXMIF, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, L1CAM, GPC3, SMC1A, HDAC8, PLP1, PCDH19, IDS, CDKL5, ARX, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, GK, PDHA1, OTC, MECP2, NHS, HPRT1, NDP, HSD17B10, FMR1
Specificity
1 %
Genes
50 %
|
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)
View the complete list with 238 more genes
TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1, IHH, BHLHA9, SMOC1, WNT3, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, INPPL1, SNX10, MMP13, EOGT, DDR2, TBX3, HDAC4, MEOX1, MATN3, TRAPPC2, GDF5, PTHLH, HPGD, RBPJ, DOCK6, LFNG, HES7, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, ENPP1, FAM111A, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, ERF, MEGF8, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, IRF6, CCNQ, WNT7A, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RIN2, WNT5A, CEP120, SRCAP, AFF4, TCTN3, SMARCAL1, MGP, EXT1, EXT2, GDF3, ALX1, FREM1, HOXA11, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, TTC21B, GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, SH3BP2, ASXL1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, LHX4, FGF10, RIPK4, ZMPSTE24, PITX1, PIEZO2, WDR19, BMPR1B, CDH3, IFT140, GDF6, TP63, GLI3, NFIX, ACVR1, ZNF469, CHST14, TNXB, FKBP14, FBN2, SKI, TGFBR2, TGFBR1, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, RAB23, NSDHL, EBP, PTH1R, CANT1, WDR35, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, LBR, FGD1, ANKRD11, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, PROK2, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, ADAMTS2, PRKAR1A, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, SBDS, GPC3, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PLOD1, CREBBP, COL10A1, FGFR3, COL5A2, COL5A1, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AGPS, SQSTM1, PLOD2, CRTAP, P3H1, COG1, SLC39A13, SP7, SERPINF1, DHODH, FBN1, SHH, CLCN7, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4
Specificity
1 %
Genes
100 %
|
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA gene.
By PreventionGenetics PreventionGenetics in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.
By PreventionGenetics PreventionGenetics in United States.
MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5 , (...)
View the complete list with 9 more genes
MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, CYCS, RUNX1
Specificity
4 %
Genes
50 %
|
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)
View the complete list with 186 more genes
CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HOXA4, HOXB6, BMP7, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, FGF10, NR5A1, SYCP3, RIPK4, FBXL4, DNAH1, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SEMA3E, SOX10, CLPP, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, FIG4, EIF2B5, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, EIF2B1, DHCR7, CREBBP, CHD7, CFTR, ARX, AR, AIRE, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GALT, CYB5A, BCOR, HCCS, CYP11A1, DHCR24, RBBP8, EVC2, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE
Specificity
1 %
Genes
50 %
|
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)
View the complete list with 138 more genes
CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, PSMC3IP, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, DHCR24, RBBP8, EVC2, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, FGF10, NR5A1, RIPK4, FBXL4, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SOX10, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, FIG4, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, DHCR7, CREBBP, CHD7, ARX, AR, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE
Specificity
1 %
Genes
50 %
|
Opitz G/BBB Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
SPECC1L, EFNB1, MED12, MID1, ZEB2, CASK, FLNA
Specificity
15 %
Genes
50 %
|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)
View the complete list with 202 more genes
DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, 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, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A
Specificity
1 %
Genes
50 %
|
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
DSE, B3GALT6, C1R, C1S, COL12A1, ZNF469, CHST14, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7, ATP7A
Specificity
10 %
Genes
100 %
|
Ehlers-Danlos syndrome Comprehensive panel - Dominant.
By Connective Tissue Gene Tests in United States.
C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
23 %
Genes
100 %
|
Ehlers-Danlos syndrome NGS panel - Dominant.
By Connective Tissue Gene Tests in United States.
C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
23 %
Genes
100 %
|
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant.
By Connective Tissue Gene Tests in United States.
C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
23 %
Genes
100 %
|
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
DSE, B3GALT6, C1R, C1S, COL12A1, ZNF469, CHST14, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7, ATP7A
Specificity
10 %
Genes
100 %
|
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
DSE, B3GALT6, C1R, C1S, COL12A1, ZNF469, CHST14, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7, ATP7A
Specificity
10 %
Genes
100 %
|
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)
View the complete list with 7 more genes
BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
4 %
Genes
50 %
|
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)
View the complete list with 7 more genes
BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
4 %
Genes
50 %
|
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)
View the complete list with 7 more genes
BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
4 %
Genes
50 %
|
Frontometaphyseal dysplasia Comprehensive panel.
By Connective Tissue Gene Tests in United States.
MAP3K7, TAB2, FLNA
Specificity
34 %
Genes
50 %
|
Frontometaphyseal dysplasia NGS panel.
By Connective Tissue Gene Tests in United States.
MAP3K7, TAB2, FLNA
Specificity
34 %
Genes
50 %
|
Frontometaphyseal dysplasia Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
MAP3K7, TAB2, FLNA
Specificity
34 %
Genes
50 %
|
Rickets, hypophosphatemic, X-linked dominant NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Melnick-Needles syndrome Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Periventricular nodular heterotopia 1 Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Cardiac valvular dysplasia, X-linked Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Frontometaphyseal dysplasia Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome, type I / II NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Rickets, hypophosphatemic, X-linked dominant Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Cardiac valvular dysplasia, X-linked Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Periventricular nodular heterotopia 1 Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome, type I / II Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Periventricular nodular heterotopia 1 NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Terminal osseous dysplasia Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome, type I / II Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Frontometaphyseal dysplasia Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Frontometaphyseal dysplasia NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Terminal osseous dysplasia NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Melnick-Needles syndrome Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Melnick-Needles syndrome NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Terminal osseous dysplasia Comprehensive Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Cardiac valvular dysplasia, X-linked NGS Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Rickets, hypophosphatemic, X-linked dominant Deletion / Duplication Test.
By Connective Tissue Gene Tests in United States.
FLNA
Specificity
100 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
Marfan syndrome, EDS and other connective tissue disorders - different panels.
By Institute of Human Genetics Cologne University in Germany.
GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3 , (...)
View the complete list with 17 more genes
GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, COL4A5, ADAMTS2, SMAD4, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ELN, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
6 %
Genes
100 %
|
Vascular and connective tissue diseases - panels.
By MGZ Medical Genetics Center in Germany.
JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)
View the complete list with 47 more genes
JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, AFF2, AGTR2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, AGRN, NOTCH3, ADAMTS2, ENG, PLOD1, GLA, COL5A2, COL5A1, CBS, AIFM1, OTC, COQ8A, SLC39A13, AGK, FBN1, AFG3L2, POLG, AMACR, COL3A1, COL1A2, COL1A1, ADSL, B4GALT7, AGL, TTR
Specificity
3 %
Genes
100 %
|
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center in Germany.
GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)
View the complete list with 323 more genes
GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
50 %
|
Syndromal Diseases - panels.
By MGZ Medical Genetics Center in Germany.
PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)
View the complete list with 322 more genes
PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
50 %
|
X-Linked Mental Retardation.
By MGZ Medical Genetics Center in Germany.
NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2 , (...)
View the complete list with 93 more genes
NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, 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, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, WDR45, NEXMIF, SRPX2, FLNA, PQBP1, DCX, EMD, MTM1, FHL1, L1CAM, SLC12A6, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IKBKG, IDS, DMD, CDKL5, ARX, SLC6A8, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
1 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).
By MGZ Medical Genetics Center in Germany.
PRKG1, EFEMP2, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, CBS, FBN1, COL3A1
Specificity
7 %
Genes
50 %
|
Teenager Stroke / Stroke-Like Episodes.
By MGZ Medical Genetics Center in Germany.
COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...)
View the complete list with 1 more genes
COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1, TTR
Specificity
5 %
Genes
50 %
|
Periventricular Nodular Heterotopia.
By MGZ Medical Genetics Center in Germany.
FLNA, ARFGEF2
Specificity
50 %
Genes
50 %
|
FLNA-Related Disorders.
By Bioscientia GmbH Center for Human Genetics in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Frontometaphyseal dysplasia.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Melnick-Needles syndrome.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Metaphyseal dysplasia panel.
By Centogene AG - the Rare Disease Company in Germany.
MMP9, MMP13, NKX3-2, FLNA, CDKN1C, RUNX2, RMRP, ANKH
Specificity
13 %
Genes
50 %
|
Heterotopia, periventricular, ED variant.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Heterotopia, periventricular, X-linked dominant.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Cardiac valvular dysplesia, X-linked.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
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
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
50 %
|
Otopaladigital syndrome type1.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Otopaladigital syndrome type 2.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Terminal osseous dysplasis.
By Centogene AG - the Rare Disease Company in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
FLNA.
By Amplexa Genetics Amplexa Genetics A/S in Denmark.
FLNA
Specificity
100 %
Genes
50 %
|
Epileptic Encephalopathy Panel.
By CeGaT GmbH in Germany.
GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1 , (...)
View the complete list with 57 more genes
GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, KCNB1, DNM1, KCNA2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MOCS1, MOCS2, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR
Specificity
2 %
Genes
50 %
|
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
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
50 %
|
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
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
50 %
|
Congenital Heart Defects Panel.
By CeGaT GmbH in Germany.
IRX4, TLL1, NKX2-6, NR2F2, NAA15, MED13L, TAB2, SMAD6, TBX3, TFAP2B, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, CFAP53, CFC1, GATA6, ACVR2B, CRELD1 , (...)
View the complete list with 24 more genes
IRX4, TLL1, NKX2-6, NR2F2, NAA15, MED13L, TAB2, SMAD6, TBX3, TFAP2B, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, CFAP53, CFC1, GATA6, ACVR2B, CRELD1, LEFTY2, CITED2, GATA4, GDF1, ZIC3, SMAD2, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1, FOXH1, NODAL, RBM10, SEMA3E, TBX1, FLNA, MYH7, CHD7, JAG1, PITX2, FOXC1, ELN
Specificity
3 %
Genes
50 %
|
Single gene testing FLNA.
By CeGaT GmbH in Germany.
FLNA
Specificity
100 %
Genes
50 %
|
Potentially lethal skeletal disorders Panel.
By CeGaT GmbH in Germany.
WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...)
View the complete list with 24 more genes
WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9, NSDHL, EBP, PTH1R, CANT1, COL11A2, COL11A1, LBR, OFD1, FLNA, TRPV4, SLC26A2, PEX7, FGFR2, DHCR7, FGFR3, PPIB, FAM20C, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, ALPL
Specificity
5 %
Genes
100 %
|
Epilepsy.
By Asper Biogene Asper Biogene LLC in Estonia.
SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...)
View the complete list with 104 more genes
SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9, SYP, IQSEC2, ATRX, SERPINI1, TCF4, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, SRPX2, FLNA, RELN, DCX, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, KCNA1, DYNC1H1, KIF1A, CACNA1A, SCN1A, CSTB, SLC35A3, TSC1, SYNGAP1, TSC2, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, WWOX, MOCS1, MOCS2, ALDH7A1, SLC9A6, ALG3, SLC25A22, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, GATM, MCCC1, UBE3A
Specificity
1 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
FLNA mutational analysis.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
FLNA
Specificity
100 %
Genes
50 %
|
HAD panel 2.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
ADAMTS10, PRKG1, EFEMP2, SLC2A10, FBN2, MYLK, NOTCH1, FLNA, ELN
Specificity
12 %
Genes
50 %
|
Inherited Cardiovascular Diseases and Sudden Death Panel.
By Health in Code in Spain.
FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)
View the complete list with 193 more genes
FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE
Specificity
1 %
Genes
100 %
|
Aortic Valvular Diseases Panel.
By Health in Code in Spain.
ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...)
View the complete list with 10 more genes
ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA
Specificity
7 %
Genes
100 %
|
Cardiomyopathies Panel.
By Health in Code in Spain.
FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...)
View the complete list with 129 more genes
FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, SPRED1, LAMP2, KCNQ1, TBX1, FLNA, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE
Specificity
1 %
Genes
50 %
|
Congenital Heart Diseases Panel.
By Health in Code in Spain.
TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...)
View the complete list with 19 more genes
TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1, FLNA, MYBPC3, MYH7, TTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, JAG1, PITX2, EYA4, ELN
Specificity
3 %
Genes
50 %
|
Cardiovascular Diseases_General Panel.
By Health in Code in Spain.
CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)
View the complete list with 360 more genes
CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE
Specificity
1 %
Genes
100 %
|
Congenital heart diseases Panel.
By Health in Code in Spain.
ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...)
View the complete list with 56 more genes
ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6, ACVR2B, CRELD1, LEFTY2, CITED2, EVC, GATA4, GDF1, ZIC3, GJA1, EP300, TBX5, SALL4, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, ACVR1, MYH11, ACTA2, SMAD3, NOTCH1, FOXH1, NODAL, EHMT1, FOXP1, MED12, TBX1, KANSL1, KMT2D, FLNA, MYBPC3, MYH7, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, CHD7, BRAF, RAF1, NPHP4, JAG1, PITX2, FOXC1, EYA4, ELN
Specificity
2 %
Genes
50 %
|
Aortic diseases Panel.
By Health in Code in Spain.
GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...)
View the complete list with 15 more genes
GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9, MED12, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA
Specificity
6 %
Genes
100 %
|
Invitae Aortopathy Comprehensive Panel.
By Invitae in United States.
PRKG1, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1 , (...)
View the complete list with 3 more genes
PRKG1, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
5 %
Genes
50 %
|
Invitae Ehlers-Danlos Syndrome Panel.
By Invitae in United States.
CHST14, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CRTAP, P3H1, SLC39A13, COL3A1, COL1A2, COL1A1, ATP7A
Specificity
15 %
Genes
100 %
|
Periventricular nodular heterotopia: FLNA gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome: FLNA gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.
By Genome Diagnostics VU University Medical Center in Netherlands.
SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PLOD1, COL5A1 , (...)
View the complete list with 3 more genes
SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PLOD1, COL5A1, FBN1, ELN, COL3A1
Specificity
5 %
Genes
50 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA.
By Genome Diagnostics VU University Medical Center in Netherlands.
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL1A2, COL1A1 , (...)
View the complete list with 1 more genes
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL1A2, COL1A1, B4GALT7
Specificity
10 %
Genes
100 %
|
FLNA-Related Disorders: FLNA Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
FLNA
Specificity
100 %
Genes
50 %
|
FLNA-Related Disorders: FLNA Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
FLNA
Specificity
100 %
Genes
50 %
|
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
7 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1 , (...)
View the complete list with 71 more genes
PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
50 %
|
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
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
50 %
|
Disproportionate Short Stature: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)
View the complete list with 65 more genes
SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2, CHST3, GPC6, LFNG, HES7, MESP2, TBCE, OBSL1, CUL7, ARSE, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, AGPS, SLC39A13, FBN1, COL1A1, COL2A1, ANKH
Specificity
2 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
Skeletal Dysplasia: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)
View the complete list with 143 more genes
SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, TCTN3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4
Specificity
2 %
Genes
100 %
|
Comprehensive Cardiovascular: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)
View the complete list with 97 more genes
CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR
Specificity
1 %
Genes
50 %
|
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
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
50 %
|
Comprehensive Cardiovascular: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)
View the complete list with 86 more genes
TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR
Specificity
1 %
Genes
50 %
|
Disproportionate Short Stature: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)
View the complete list with 56 more genes
SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE, OBSL1, CUL7, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, SLC39A13, FBN1, COL1A1, COL2A1, ANKH
Specificity
2 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
6 %
Genes
50 %
|
Pan-Cardio NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...)
View the complete list with 81 more genes
MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR
Specificity
1 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
XLID NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9 , (...)
View the complete list with 87 more genes
ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, 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, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
1 %
Genes
50 %
|
Skeletal Dysplasias NGS panel.
By Fulgent Genetics Fulgent Genetics in United States.
SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)
View the complete list with 141 more genes
SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4
Specificity
2 %
Genes
100 %
|
FLNA.
By Fulgent Genetics Fulgent Genetics in United States.
FLNA
Specificity
100 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...)
View the complete list with 140 more genes
SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA, XK, XIAP, ZIC3, F8, F9, EFNB1, SH2D1A, PGK1, CSF2RA, KDM6A, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, IGBP1, PHF8, GATA1, NLGN3, NLGN4X, AP1S2, MED12, MID1, SMPX, PRPS1, RAB39B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, ATRX, SMS, OFD1, PIGA, WDR45, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, EMD, MTM1, UBQLN2, FHL1, L1CAM, COL4A5, AVPR2, ANOS1, SHOX, NR0B1, UBA1, GJB1, BTK, WAS, CYBB, G6PD, HDAC8, SRY, POU3F4, PORCN, PLP1, PCDH19, IKBKG, IDS, GLA, DMD, CDKL5, ARX, AR, IL2RG, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, RP2, PHKA2, RS1, MECP2, RPGR, ALAS2, NHS, HPRT1, NDP, CACNA1F, OCRL, HSD17B10, GPR143, CHM, OPN1MW, ATP7A
Specificity
1 %
Genes
50 %
|
Thrombocytopenia Panel.
By Blueprint Genetics in Finland.
ARPC1B, MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2 , (...)
View the complete list with 14 more genes
ARPC1B, MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, THBD, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, CYCS, RUNX1
Specificity
3 %
Genes
50 %
|
X-linked Intellectual Disability Panel.
By Blueprint Genetics in Finland.
ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4 , (...)
View the complete list with 79 more genes
ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
50 %
|
Bleeding Disorder/Coagulopathy Panel.
By Blueprint Genetics in Finland.
LMAN1, MCFD2, MECOM, SERPINC1, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, F7, VKORC1, PROC, PROS1, RBM8A , (...)
View the complete list with 42 more genes
LMAN1, MCFD2, MECOM, SERPINC1, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, F7, VKORC1, PROC, PROS1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, P2RY12, FGG, TBXA2R, GGCX, FGB, FGA, GP1BA, ABCG8, ABCG5, ADAMTS13, F8, F9, THBD, VWF, F11, BLOC1S6, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, AP3B1, CYCS, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, RUNX1, F5, F2
Specificity
2 %
Genes
50 %
|
Congenital Structural Heart Disease Panel.
By Blueprint Genetics in Finland.
CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...)
View the complete list with 42 more genes
CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5, ABL1, GATA6, ACVR2B, CRELD1, LEFTY2, MYCN, GATA4, GDF1, ZIC3, B3GAT3, GJA1, CTC1, PPP1CB, EFTUD2, TBX5, SALL4, NKX2-5, ACTC1, BMPR2, ACVR1, ACTA2, NOTCH1, NODAL, RBM10, HOXA1, ACTG1, ACTB, TBX1, FLNA, NF1, ENG, GPC3, NSD1, CBL, SOS2, HRAS, DHCR7, CHD7, BCOR, JAG1, PITX2, ELN
Specificity
2 %
Genes
50 %
|
Comprehensive Hematology Panel.
By Blueprint Genetics in Finland.
ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...)
View the complete list with 219 more genes
ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12, F10, TRNT1, RNF168, CLPB, EGLN1, DDX41, REN, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, SAMD9L, SAMD9, DNAJC21, EPAS1, PGM3, EPOR, ACD, F7, VKORC1, JAGN1, PROC, WIPF1, FADD, PROS1, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, EPB41, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK, STXBP2, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, GP1BB, SLC4A1, IFNGR2, CSF3R, ETV6, IKZF1, JAK2, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2, NBEAL2, P2RY12, FGG, TBXA2R, RAB27A, MYO5A, GGCX, FGB, FGA, GP1BA, SLC46A1, USB1, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, ABCG8, ABCG5, FANCE, FANCF, FANCG, FANCA, ADAMTS13, F8, F9, NOP10, NHP2, WRAP53, CTC1, THBD, VWF, F11, SH2D1A, SFTPB, SFTPC, ABCA3, CSF2RA, PARN, TERT, TERC, LYST, BLOC1S6, CTSC, ATR, DKC1, FANCB, MAGT1, SEC23B, CDAN1, PKLR, RPS24, RPL5, RPL11, RPS10, RPS26, KLF1, GATA1, PIEZO1, MYH9, SLC19A2, ACTB, VPS13B, ATRX, FLNA, NF1, WAS, RTEL1, MPL, HBA2, G6PD, HBA1, RAD51C, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, CDKN2A, PALB2, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, RPS19, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, PDHX, ANKRD26, SLC25A38, CYB5R3, CUBN, NT5C3A, AK2, TCN2, ABCB7, PDHA1, PUS1, AP3B1, HAX1, CYCS, RPL35A, GPI, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, ALAS2, DTNBP1, CLCN7, GPR143, SLC37A4, TYR, MTR, SLC45A2, AMN, OCA2, TYRP1, HBB, PC, YARS2, TP53, RUNX1, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, HFE, F5, F2, BRCA2, BRCA1
Specificity
1 %
Genes
50 %
|
Aorta Panel.
By Blueprint Genetics in Finland.
ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)
View the complete list with 21 more genes
ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5
Specificity
5 %
Genes
100 %
|
Ehlers-Danlos Syndrome Panel.
By Blueprint Genetics in Finland.
DSE, BGN, EFEMP2, ZNF469, ABCC6, CHST14, FKBP14, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL11A1, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13 , (...)
View the complete list with 12 more genes
DSE, BGN, EFEMP2, ZNF469, ABCC6, CHST14, FKBP14, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL11A1, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5, B4GALT7, ATP7A
Specificity
7 %
Genes
100 %
|
Comprehensive Metabolism Panel.
By Blueprint Genetics in Finland.
PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)
View the complete list with 414 more genes
PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE
Specificity
1 %
Genes
50 %
|
Epileptic Encephalopathy Panel.
By Blueprint Genetics in Finland.
TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...)
View the complete list with 108 more genes
TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS, HEPACAM, SCO1, ADAR, NECAP1, CLCN4, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, KIF1A, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MTFMT, SLC6A8, FARS2, WWOX, COX6B1, LRPPRC, HIBCH, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, ALDH7A1, SLC9A6, D2HGDH, ETHE1, AMT, GLDC, SLC25A22, STXBP1, GAMT, ABAT, NUBPL, TTC19, DNM1L, MECP2, NDUFS4, POLG, CPT2, ADSL, UBE3A, MTHFR, HTT
Specificity
1 %
Genes
50 %
|
Metaphyseal Dysplasia Panel.
By Blueprint Genetics in Finland.
MMP9, MMP13, PTH1R, FLNA, SBDS, CDKN1C, RUNX2, RMRP, COL10A1, FGFR3, ANKH
Specificity
10 %
Genes
50 %
|
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
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
50 %
|
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
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
50 %
|
Skeletal Dysplasias Core Panel.
By Blueprint Genetics in Finland.
ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)
View the complete list with 91 more genes
ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3, ENPP1, OBSL1, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CUL7, ARSE, NEK1, ROR2, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, SMARCAL1, DHCR24, EIF2AK3, B3GALT6, EVC2, EVC, IFT80, TTC21B, SERPINH1, BMP1, PLS3, GNPAT, WDR19, BMPR1B, LTBP2, IFT140, DYM, ADAMTSL2, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, KAT6B, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, FLNA, HSPG2, FGF23, PHEX, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, SBDS, SMAD4, CDKN1C, FGFR2, VDR, RUNX2, RMRP, COL10A1, FGFR3, LMX1B, TNFRSF11B, PPIB, TCIRG1, CA2, FAM20C, CYP27B1, CTSK, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SERPINF1, CLCN7, TNFRSF11A, TGFB1, COL1A2, COL1A1, COL2A1, LRP5, FKBP10, ANKH, ALPL
Specificity
2 %
Genes
100 %
|
Comprehensive Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)
View the complete list with 226 more genes
CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, TBX3, MATN3, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, AKT1, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, GJA1, GNAS, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, EBP, FANCB, PTH1R, CANT1, WDR35, KAT6B, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, SETBP1, ANKRD11, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, RNU4ATAC, NF1, LMNA, TRPV4, SLC26A2, PEX7, PRKAR1A, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PTPN11, IDS, CREBBP, COL10A1, FANCC, FGFR3, ARSB, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4
Specificity
1 %
Genes
100 %
|
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
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
100 %
|
X-linked periventricular nodular heterotopia.
By Bioarray in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital syndrome, type II.
By Bioarray in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
MELNICK-NEEDLES SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
EHLERS-DANLOS SYNDROME WITH HETEROTOPIA PERIVENTRICULAR.
By Laboratorio de Genetica Clinica SL in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
PERIVENTRICULAR NODULAR HETEROTOPIA.
By Laboratorio de Genetica Clinica SL in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
FRONTOMETAPHYSEAL DYSPLASIA.
By Laboratorio de Genetica Clinica SL in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
EHLERS-DANLOS SYNDROME: NGS PANEL-2.
By Laboratorio de Genetica Clinica SL in Spain.
DSE, B3GALT6, CHST14, TNXB, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
14 %
Genes
100 %
|
OTOPALATODIGITAL SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Periventricular Nodular Heterotopia, Sequencing FLNA Gene.
By Reference Laboratory Genetics in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital Associated Syndromes, Sequencing FLNA Gene.
By Reference Laboratory Genetics in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Otopalatodigital Associated Syndromes , Deletions-Duplications (MLPA) FLNA Gene.
By Reference Laboratory Genetics in Spain.
FLNA
Specificity
100 %
Genes
50 %
|
Opitz-Kaveggia Syndrome , Panel Massive Sequencing (NGS) CASK, FLNA, MED12 Genes.
By Reference Laboratory Genetics in Spain.
MED12, CASK, FLNA
Specificity
34 %
Genes
50 %
|
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
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
3 %
Genes
50 %
|
Otopalatodigital Spectrum Disorders: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
FLNA
Specificity
100 %
Genes
50 %
|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)
View the complete list with 617 more genes
GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1
Specificity
1 %
Genes
50 %
|
COL1A2 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A2 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A2 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A1/2 Related Disorders Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories in United States.
COL5A2, COL5A1, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SLC9A3R1, SLC39A13, PLOD3, SP7, SERPINF1, FBN1, TNFRSF11A, SLC34A1, COL3A1, COL1A2, COL1A1, IFITM5, B4GALT7 , (...)
View the complete list with 2 more genes
COL5A2, COL5A1, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SLC9A3R1, SLC39A13, PLOD3, SP7, SERPINF1, FBN1, TNFRSF11A, SLC34A1, COL3A1, COL1A2, COL1A1, IFITM5, B4GALT7, FKBP10, ALPL
Specificity
5 %
Genes
50 %
|
PreSeek Non-invasive Prenatal Gene Sequencing Screen.
By Baylor Miraca Genetics Laboratories in United States.
NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)
View the complete list with 10 more genes
NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, CDKL5, BRAF, FGFR3, MECP2, RAF1, JAG1, COL1A2, COL1A1
Specificity
4 %
Genes
50 %
|
Osteogenesis Imperfecta Evaluation.
By Athena Diagnostics Inc in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A2 (OI) DNA Sequencing Test.
By Athena Diagnostics Inc in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
NGS Connective Tissue Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2 , (...)
View the complete list with 15 more genes
ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5, ATP7A
Specificity
3 %
Genes
50 %
|
Osteogenesis Imperfecta.
By Center for Human Genetics, Inc in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A1/COL1A2-Related Osteogenesis Imperfecta genomic sequencing and deletion/duplication analysis.
By Collagen Diagnostic Laboratory University of Washington in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Autosomal Dominant Osteogenesis imperfecta panel.
By Collagen Diagnostic Laboratory University of Washington in United States.
COL1A2, COL1A1, IFITM5
Specificity
34 %
Genes
50 %
|
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.
By Collagen Diagnostic Laboratory University of Washington in United States.
GORAB, B3GAT3, NBAS, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, XYLT2, SPARC, TAPT1, PLS3, MBTPS2, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1 , (...)
View the complete list with 10 more genes
GORAB, B3GAT3, NBAS, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, XYLT2, SPARC, TAPT1, PLS3, MBTPS2, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, PLOD3, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, B4GALT7, FKBP10, ALPL
Specificity
4 %
Genes
50 %
|
Ehlers-Danlos type VII (EDS VII) genomic sequencing and deletion/duplication analysis.
By Collagen Diagnostic Laboratory University of Washington in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Comprehensive Ehlers-Danlos Syndrome Panel.
By Collagen Diagnostic Laboratory University of Washington in United States.
C1R, C1S, CHST14, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, ATP7A
Specificity
8 %
Genes
50 %
|
COL1A2 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A2.
By Institute for Human Genetics University Clinic Freiburg in Germany.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.
DMP1, SLC34A3, ENPP1, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, FGF23, PHEX, CASR, PPIB, PLOD2, CRTAP, P3H1, SP7 , (...)
View the complete list with 7 more genes
DMP1, SLC34A3, ENPP1, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, FGF23, PHEX, CASR, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
4 %
Genes
50 %
|
Ehlers-Danlos Syndrome, Arthrochalasia Type.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis Imperfecta, autosomal dominant.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SOX9, SLC26A2, FGFR3, CRTAP, COL1A2, COL1A1, COL2A1, ALPL
Specificity
13 %
Genes
50 %
|
COL1A2. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A1, COL1A2. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A2. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A1, COL1A2. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A1, COL1A2, CRTAP, LEPRE1. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
CRTAP, COL1A2, COL1A1
Specificity
34 %
Genes
50 %
|
Osteogenesis Imperfecta Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis Imperfecta Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis Imperfecta Del/Dep Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis imperfecta type 1, 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes).
By CGC Genetics in Portugal.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis Imperfecta (sequence analysis of COL1A2 gene).
By CGC Genetics in Portugal.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome type 1 (sequence analysis of COL1A1 and COL1A2 genes).
By CGC Genetics in Portugal.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos syndrome type VII (sequence analysis of COL1A1 and COL1A2 genes).
By CGC Genetics in Portugal.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos syndrome type VIIB (sequence analysis of COL1A2 gene).
By CGC Genetics in Portugal.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome (NGS panel for 12 genes).
By CGC Genetics in Portugal.
CHST14, TNXB, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
9 %
Genes
50 %
|
Skeletal dysplasia (NGS panel for 31 genes).
By CGC Genetics in Portugal.
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)
View the complete list with 11 more genes
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, ALPL
Specificity
4 %
Genes
50 %
|
Osteogenesis imperfecta (NGS panel for 16 genes).
By CGC Genetics in Portugal.
CREB3L1, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, IFITM5, FKBP10
Specificity
7 %
Genes
50 %
|
Deletion/duplication analysis of COL1A2 gene.
By CGC Genetics in Portugal.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene).
By CGC Genetics in Portugal.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene).
By CGC Genetics in Portugal.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis Imperfecta via the COL1A2 Gene.
By PreventionGenetics PreventionGenetics in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
6 %
Genes
50 %
|
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
DMP1, SLC34A3, ENPP1, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, FGF23, PHEX, PPIB, CYP27B1, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2 , (...)
View the complete list with 5 more genes
DMP1, SLC34A3, ENPP1, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, FGF23, PHEX, PPIB, CYP27B1, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
4 %
Genes
50 %
|
Osteogenesis imperfecta COL1A1 & COL1A2 Comprehensive panel.
By Connective Tissue Gene Tests in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel.
By Connective Tissue Gene Tests in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis imperfecta COL1A1 & COL1A2 Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, CREB3L1, P4HB, SEC24D , (...)
View the complete list with 4 more genes
SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, CREB3L1, P4HB, SEC24D, LRP5, IFITM5, FKBP10, ALPL
Specificity
5 %
Genes
50 %
|
Skeletal dysplasia core & extended Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)
View the complete list with 9 more genes
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
4 %
Genes
50 %
|
Osteogenesis imperfecta Comprehensive panel - Dominant.
By Connective Tissue Gene Tests in United States.
P4HB, PLS3, ANO5, COL1A2, COL1A1, IFITM5, ALPL
Specificity
15 %
Genes
50 %
|
Osteogenesis imperfecta core Comprehensive panel.
By Connective Tissue Gene Tests in United States.
COL1A2, COL1A1, IFITM5
Specificity
34 %
Genes
50 %
|
Skeletal dysplasia core & extended Comprehensive panel.
By Connective Tissue Gene Tests in United States.
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)
View the complete list with 9 more genes
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
4 %
Genes
50 %
|
Skeletal dysplasia core Comprehensive panel.
By Connective Tissue Gene Tests in United States.
INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
10 %
Genes
50 %
|
Skeletal dysplasia core NGS panel.
By Connective Tissue Gene Tests in United States.
INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
10 %
Genes
50 %
|
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1 , (...)
View the complete list with 4 more genes
CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
5 %
Genes
50 %
|
Osteogenesis imperfecta core Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
COL1A2, COL1A1, IFITM5
Specificity
34 %
Genes
50 %
|
Skeletal dysplasia core & extended NGS panel.
By Connective Tissue Gene Tests in United States.
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)
View the complete list with 9 more genes
MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
4 %
Genes
50 %
|
Osteogenesis imperfecta Deletion / Duplication panel - Dominant.
By Connective Tissue Gene Tests in United States.
P4HB, PLS3, ANO5, COL1A2, COL1A1, IFITM5, ALPL
Specificity
15 %
Genes
50 %
|
Osteogenesis imperfecta NGS panel - Dominant.
By Connective Tissue Gene Tests in United States.
P4HB, PLS3, ANO5, COL1A2, COL1A1, IFITM5, ALPL
Specificity
15 %
Genes
50 %
|
Skeletal dysplasia core Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
10 %
Genes
50 %
|
Osteogenesis imperfecta core NGS panel.
By Connective Tissue Gene Tests in United States.
COL1A2, COL1A1, IFITM5
Specificity
34 %
Genes
50 %
|
Osteogenesis imperfecta NGS panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1 , (...)
View the complete list with 4 more genes
CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
5 %
Genes
50 %
|
Osteogenesis imperfecta, types I, II, III & IV NGS Test B.
By Connective Tissue Gene Tests in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test B.
By Connective Tissue Gene Tests in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test B.
By Connective Tissue Gene Tests in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta and osteoporosis - different panels.
By Institute of Human Genetics Cologne University in Germany.
MMP2, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5 , (...)
View the complete list with 3 more genes
MMP2, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
5 %
Genes
50 %
|
Ehlers-Danlos Syndrome (EDS).
By MGZ Medical Genetics Center in Germany.
ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
8 %
Genes
50 %
|
Ehlers-Danlos Syndrome Type VIIB.
By Bioscientia GmbH Center for Human Genetics in Germany.
COL1A2
Specificity
100 %
Genes
50 %
|
COL1A1/2-Related Osteogenesis Imperfecta.
By Bioscientia GmbH Center for Human Genetics in Germany.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers Danlos syndrome.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.
PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
17 %
Genes
50 %
|
Osteogenesis Imperfecta.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos syndrome type VIIC.
By Centogene AG - the Rare Disease Company in Germany.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta.
By Centogene AG - the Rare Disease Company in Germany.
COL1A2
Specificity
100 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
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
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
1 %
Genes
50 %
|
COL1A1/2-Related Osteogenesis Imperfecta.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos Syndrome Type VIIB.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
COL1A2
Specificity
100 %
Genes
50 %
|
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.
By CeGaT GmbH in Germany.
DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)
View the complete list with 24 more genes
DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, COL4A1, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, FBLN5, B4GALT7, ATP7A
Specificity
3 %
Genes
50 %
|
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.
By CeGaT GmbH in Germany.
DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)
View the complete list with 24 more genes
DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, COL4A1, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, FBLN5, B4GALT7, ATP7A
Specificity
3 %
Genes
50 %
|
Chondrodysplasia punctata Panel.
By CeGaT GmbH in Germany.
GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, ANO5, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, ATP6V0A2, PYCR1, COL1A2, COL1A1, LRP5, IFITM5 , (...)
View the complete list with 2 more genes
GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, ANO5, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, ATP6V0A2, PYCR1, COL1A2, COL1A1, LRP5, IFITM5, B4GALT7, FKBP10
Specificity
5 %
Genes
50 %
|
Osteogenesis imperfecta.
By Laboratory of Human Genetics GENOMED Health Care Center in Poland.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos Syndrome.
By Laboratory of Human Genetics GENOMED Health Care Center in Poland.
PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
17 %
Genes
50 %
|
COL1A1/2-Related Osteogenesis Imperfecta.
By Innovagenomics Innovagenomics S.L in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A1/2-Related Osteogenesis Imperfecta.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos Syndrome, Arthrochalasia Type (EDS VIIA/VIIB).
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A2 mutational analysis.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
COL1A2
Specificity
100 %
Genes
50 %
|
OI panel 1.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
COL1A2, COL1A1, IFITM5
Specificity
34 %
Genes
50 %
|
Osteogenesis Imperfecta (OI), COL1A1/COL1A2 sequencing.
By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Osteogenesis Imperfecta.
By Molecular Vision Laboratory in United States.
P3H1, COL1A2, COL1A1
Specificity
34 %
Genes
50 %
|
COL1A2 single gene sequencing.
By Molecular Vision Laboratory in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome VIIB.
By Praxis fuer Humangenetik Wien in Austria.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta III.
By Praxis fuer Humangenetik Wien in Austria.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta II.
By Praxis fuer Humangenetik Wien in Austria.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta IV.
By Praxis fuer Humangenetik Wien in Austria.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome VIIB.
By MedGene in Slovakia.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta II.
By MedGene in Slovakia.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta III.
By MedGene in Slovakia.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta IV.
By MedGene in Slovakia.
COL1A2
Specificity
100 %
Genes
50 %
|
Invitae Osteogenesis Imperfecta Panel.
By Invitae in United States.
CRTAP, P3H1, COL1A2, COL1A1
Specificity
25 %
Genes
50 %
|
Osteogenesis imperfecta: COL1A2 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis imperfecta: COL1A1 and COL1A2 genes sequence analysis..
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
EHLERS-DANLOS, SYNDROME.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
CHST14, TNXB, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
10 %
Genes
50 %
|
OSTEOGENESIS IMPERFECTA.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
SERPINH1, BMP1, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10
Specificity
8 %
Genes
50 %
|
Skeletal dysplasias.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)
View the complete list with 16 more genes
MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
3 %
Genes
50 %
|
NGS panel - Osteogenesis Imperfecta and related disorders.
By Genome Diagnostics VU University Medical Center in Netherlands.
CREB3L1, SERPINH1, WNT1, BMP1, TMEM38B, TAPT1, PLS3, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
6 %
Genes
50 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).
By Genome Diagnostics VU University Medical Center in Netherlands.
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL1A2, COL1A1, B4GALT7
Specificity
5 %
Genes
50 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.
By Genome Diagnostics VU University Medical Center in Netherlands.
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, FBN1, COL1A2, COL1A1 , (...)
View the complete list with 1 more genes
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, FBN1, COL1A2, COL1A1, B4GALT7
Specificity
5 %
Genes
50 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).
By Genome Diagnostics VU University Medical Center in Netherlands.
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL1A2, COL1A1, B4GALT7
Specificity
5 %
Genes
50 %
|
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.
By Genome Diagnostics VU University Medical Center in Netherlands.
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL3A1, COL1A2, COL1A1 , (...)
View the complete list with 1 more genes
FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
5 %
Genes
50 %
|
COL1A2 - Gene Sequencing & Del/Dup analysis.
By Genome Diagnostics VU University Medical Center in Netherlands.
COL1A2
Specificity
100 %
Genes
50 %
|
Connective Tissue Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)
View the complete list with 9 more genes
ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5
Specificity
4 %
Genes
50 %
|
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
MAFB, MMP2, DMP1, SLC34A3, CLCN5, ENPP1, NOTCH2, TREM2, GORAB, SERPINH1, GNAS, ZMPSTE24, ANO5, FGF23, PHEX, CASR, LMNA, PPIB, PLOD2, CRTAP , (...)
View the complete list with 14 more genes
MAFB, MMP2, DMP1, SLC34A3, CLCN5, ENPP1, NOTCH2, TREM2, GORAB, SERPINH1, GNAS, ZMPSTE24, ANO5, FGF23, PHEX, CASR, LMNA, PPIB, PLOD2, CRTAP, P3H1, SP7, ATP6V0A2, PYCR1, TNFRSF11A, COL1A2, COL1A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL
Specificity
3 %
Genes
50 %
|
Connective Tissue Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)
View the complete list with 9 more genes
ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5
Specificity
4 %
Genes
50 %
|
Amelogenesis Imperfecta NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
WDR72, MMP20, KLK4, ENAM, FAM83H, DLX3, AMELX, FAM20A, SERPINH1, BMP1, DSPP, PPIB, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, IFITM5, FKBP10
Specificity
5 %
Genes
50 %
|
Connective Tissue NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2 , (...)
View the complete list with 11 more genes
ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5
Specificity
4 %
Genes
50 %
|
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
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
50 %
|
Osteogenesis Imperfecta NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
COL1A2.
By Fulgent Genetics Fulgent Genetics in United States.
COL1A2
Specificity
100 %
Genes
50 %
|
OSTEOGENON.
By PentaCoreLab in Hungary.
CRTAP, P3H1, COL1A2, COL1A1
Specificity
25 %
Genes
50 %
|
Ehlers-Danlos.
By PentaCoreLab in Hungary.
TNXB, ADAMTS2, PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
13 %
Genes
50 %
|
Marfan Syndrome Panel.
By Blueprint Genetics in Finland.
ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2 , (...)
View the complete list with 10 more genes
ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2, COL11A1, PLOD1, COL5A2, COL5A1, CBS, FBN1, COL3A1, COL1A2, COL1A1, COL2A1
Specificity
4 %
Genes
50 %
|
Osteogenesis Imperfecta Panel.
By Blueprint Genetics in Finland.
SLC34A3, CLCN5, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, MBTPS2, FGF23, PHEX, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1 , (...)
View the complete list with 7 more genes
SLC34A3, CLCN5, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, MBTPS2, FGF23, PHEX, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, B4GALT7, FKBP10, ALPL
Specificity
4 %
Genes
50 %
|
Skeletal Dysplasia with Abnormal Mineralization Panel.
By Blueprint Genetics in Finland.
SNX10, GALNT3, SLC34A3, CLCN5, ENPP1, PTDSS1, MGP, PLS3, SOX9, FGF23, PHEX, CASR, VDR, COL5A2, COL5A1, TNFRSF11B, PPIB, CYP27B1, PLOD2, CRTAP , (...)
View the complete list with 12 more genes
SNX10, GALNT3, SLC34A3, CLCN5, ENPP1, PTDSS1, MGP, PLS3, SOX9, FGF23, PHEX, CASR, VDR, COL5A2, COL5A1, TNFRSF11B, PPIB, CYP27B1, PLOD2, CRTAP, P3H1, SLC39A13, SERPINF1, FBN1, TNFRSF11A, COL3A1, COL1A2, COL1A1, B4GALT7, FKBP10, ANKH, ALPL
Specificity
4 %
Genes
50 %
|
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.
By Insight Medical Genetics in United States.
PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3 , (...)
View the complete list with 13 more genes
PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3, PPIB, AGPS, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, COL2A1, IFITM5, FKBP10, ALPL
Specificity
4 %
Genes
50 %
|
Osteogenesis Imperfecta type III.
By Bioarray in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos syndrome, arthrochalasic type.
By Bioarray in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis Imperfecta.
By Bioarray in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Exome.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.
IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...)
View the complete list with 46 more genes
IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3, ATXN8OS, TBP, ATXN2, SERPINA1, CDH1, TSC1, ATXN1, PTPN11, NRAS, DMPK, MAP2K1, KRAS, IDS, DMD, CHD7, CDKL5, BRAF, CFTR, FGFR3, COL5A2, COL5A1, MEN1, FXN, ABCD1, FBN1, MECP2, AFG3L2, RET, TGFB1, PRKCG, COL3A1, COL1A2, COL1A1, COL2A1, ALPL, TP53, PTEN, MUTYH, APC, UBE3A, TTR, HFE, HTT, FMR1, BRCA2, BRCA1
Specificity
2 %
Genes
50 %
|
OSTEOGENESIS IMPERFECTA (AUTOSOMAL DOMINANT).
By Laboratorio de Genetica Clinica SL in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
EHLERS-DANLOS SYNDROME, ARTROCALASIA, TYPE 7A & 7B.
By Laboratorio de Genetica Clinica SL in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
EHLERS-DANLOS SYNDROME: NGS PANEL-1.
By Laboratorio de Genetica Clinica SL in Spain.
TNXB, PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
15 %
Genes
50 %
|
Ehlers-Danlos syndrome and related disorders panel.
By LifeLabs Genetics in Canada.
FKBP14, PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
15 %
Genes
50 %
|
Osteogenesis Imperfecta , Deletions-Duplications (MLPA) COL1A2 Gene.
By Reference Laboratory Genetics in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Osteogenesis Imperfecta , Panel massive Sequencing (NGS) (COL1A1,COL1A2) Genes.
By Reference Laboratory Genetics in Spain.
COL1A2, COL1A1
Specificity
50 %
Genes
50 %
|
Ehlers-Danlos Syndrome Type VIIB , Sequencing COL1A2 Gene.
By Reference Laboratory Genetics in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes.
By Reference Laboratory Genetics in Spain.
B3GALT6, CHST14, TNXB, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
8 %
Genes
50 %
|
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes.
By Reference Laboratory Genetics in Spain.
SERPINH1, BMP1, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, IFITM5, FKBP10
Specificity
9 %
Genes
50 %
|
Osteogenesis Imperfecta , Massive Sequencing COL1A2 Gene.
By Reference Laboratory Genetics in Spain.
COL1A2
Specificity
100 %
Genes
50 %
|
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.
By Reference Laboratory Genetics in Spain.
ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2 , (...)
View the complete list with 19 more genes
ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, COL9A2, COL9A1, ADAMTS2, SMAD4, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5
Specificity
3 %
Genes
50 %
|
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.
By Reference Laboratory Genetics in Spain.
MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)
View the complete list with 16 more genes
MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
3 %
Genes
50 %
|
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes.
By Reference Laboratory Genetics in Spain.
CALCR, VDR, COL1A2, COL1A1, LRP5
Specificity
20 %
Genes
50 %
|
Ehlers-danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form Is also known as ;eds, cardiac valvular type.
Ehlers-danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form