Panel Name, Specifity and genes Tested/covered |
Hereditary Renal Cancer Panel.
By Baylor Miraca Genetics Laboratories in United States.
VHL, PTEN, WT1, SDHAF2, SDHC, FH, SDHB, SDHA, CDKN1C, SDHD, FLCN, MET, GPC3
Specificity
8 %
Genes
100 %
|
Comprehensive Hereditary Cancer Panel.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)
View the complete list with 41 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, TSHR, PTPN11, CBL, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, ENG, PMS1, RAD51D
Specificity
2 %
Genes
100 %
|
NGS Overgrowth/Macrocephaly Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
PTEN, NSD1, PTCH1, CDKN1C, GPC3, PHF6, CUL4B, MED12, UPF3B, DNMT3A, NFIX, EZH2, RNF135, GLI3
Specificity
8 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome (CDKN1C) Sequencing.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Chacot-Marie-Tooth Disease, Type 1A MLPA.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Test for Beckwith-Wiedemann Syndrome.
By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.
CDKN1C, H19, KCNQ1OT1
Specificity
34 %
Genes
100 %
|
Hearing Loss Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)
View the complete list with 102 more genes
ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, COL9A1, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, NLRP3, DIAPH1, DNMT1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, DTD1, MYO1A, MASP1
Specificity
1 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.
CDKN1C
Specificity
100 %
Genes
100 %
|
IMAGe Syndrome.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome (CDKN1C Analysis).
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)
View the complete list with 21 more genes
NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, LRBA, APPL1, IL2RA, DUT, NKX2-2, MNX1, DNAJC3, TRMT10A, ZBTB20, ZFP57
Specificity
3 %
Genes
100 %
|
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.
By Genetic Services Laboratory University of Chicago in United States.
NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)
View the complete list with 21 more genes
NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, LRBA, APPL1, IL2RA, DUT, NKX2-2, MNX1, DNAJC3, TRMT10A, ZBTB20, ZFP57
Specificity
3 %
Genes
100 %
|
Abnormal/Ambiguous Genitalia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)
View the complete list with 52 more genes
STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4, LMNA, NR0B1, LHCGR, KISS1R, ANOS1, ATRX, OPHN1, SETBP1, SALL1, FAT4, POR, SOX9, RIPK4, SCARF2, NR5A1, HSD17B3, SRD5A2, GATA4, CEP41, DHCR24, BMP4, B3GLCT, TCTN3, UBR1, AKR1C2, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60
Specificity
2 %
Genes
100 %
|
CDKN1C sequencing.
By Genetic Services Laboratory University of Chicago in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Hypospadias Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)
View the complete list with 41 more genes
WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1, PEX1, FIG4, FGFR1, FLNA, ATRX, SETBP1, ZEB2, SALL1, MID1, MED12, FAT4, WDR35, PCNT, GLI3, TP63, FBXL4, NR5A1, FGF10, SRD5A2, EFNB1, EVC, EVC2, RBBP8, BMP4, B3GLCT, EPG5, UBR1, GRIP1, ESCO2, FREM2, HOXA13, DNMT3B, WNT7A, MAP3K1, FRAS1, IRF6, SPECC1L, MAMLD1, CUL7, PDE4D, PTDSS1
Specificity
2 %
Genes
100 %
|
CDKN1C mutation analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
CDKN1C
Specificity
100 %
Genes
100 %
|
CDKN1C. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
CHOP Comprehensive Hereditary Cancer Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)
View the complete list with 86 more genes
BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH, FAH, SDHB, HAX1, MEN1, SDHA, FANCC, GBA, BLM, GJB2, HRAS, PTPN11, RMRP, CBL, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, CDH1, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, RAD51D, SERPINA1, MPL, NF1, ERCC2, ERCC3, DKC1, DOCK8, SMARCE1, SMARCA4, SMARCB1, SH2D1A, PRSS1, KIT, FANCA, FANCG, BAP1, CDKN1B, ERCC4, POLD1, EGFR, PDGFRA, IKZF1, ETV6, POLE, AXIN2, EXT2, EXT1, ELANE, ITK, G6PC3, COL7A1, DDX41, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, HMBS, ARID5B, POLH, CEBPE, MTAP, DIS3L2, DDB2
Specificity
1 %
Genes
100 %
|
Hereditary Kidney Cancer Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
VHL, MSH2, MSH6, MLH1, PTEN, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1, BAP1
Specificity
5 %
Genes
100 %
|
Syndromic deafness (NGS panel for 62 genes).
By CGC Genetics in Portugal.
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)
View the complete list with 42 more genes
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF
Specificity
2 %
Genes
100 %
|
Syndromic and non syndromic deafness (NGS panel for 127 genes).
By CGC Genetics in Portugal.
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)
View the complete list with 107 more genes
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, SLC12A1, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, POLR1C, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TFAP2A, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, GPSM2, MITF, MYO1A, TMC2
Specificity
1 %
Genes
100 %
|
Beckwith-Wiedemann syndrome (sequence analysis of CDKN1C gene).
By CGC Genetics in Portugal.
CDKN1C
Specificity
100 %
Genes
100 %
|
OncoRisk (NGS panel for 48 genes).
By CGC Genetics in Portugal.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1 , (...)
View the complete list with 28 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1, NSD1, ATM, NBN, PHOX2B, NF2, PALB2, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, CEBPA, PRKAR1A, CDC73, RAD51C, NF1, FANCB, FANCA, EXT2, EXT1
Specificity
3 %
Genes
100 %
|
OncoRisk Plus (NGS panel for 89 genes).
By CGC Genetics in Portugal.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)
View the complete list with 69 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, XPC, DIS3L2, DDB2, CEP57
Specificity
2 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome via CDKN1C Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)
View the complete list with 186 more genes
HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, FGFR3, AIRE, AR, ARX, CFTR, CHD7, CREBBP, DHCR7, EIF2B1, LEP, LEPR, PCSK1, PTPN11, SOS1, SRY, FGFR2, CDKN1C, GPC3, HBA1, PROP1, PEX1, EIF2B5, FIG4, LMNA, EIF2B3, EIF2B2, EIF2B4, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, FLNA, ATRX, OPHN1, SETBP1, ZEB2, SALL1, CLPP, SOX10, SEMA3E, MID1, MED12, FAT4, WDR35, SOX3, POR, SOX9, PCNT, GLI3, TP63, DNAH1, FBXL4, RIPK4, SYCP3, NR5A1, FGF10, ADGRG2, HSD17B3, LHX4, LHX3, SRD5A2, EFNB1, GATA4, CEP41, EVC, EVC2, RBBP8, DHCR24, BMP4, B3GLCT, EPG5, UBR1, WNT5A, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MAMLD1, AMH, AMHR2, LHB, FSHB, FGF17, WDR11, TAC3, CUL7, PDE4D, PTDSS1, KISS1, TRAIP, TWIST2, NR3C1, SPATA16, PICK1, AURKC, NANOS1, CATSPER1, FLRT3, DUSP6, SPRY4, HS6ST1, NUP107, ZP1, MCM9, BMP7, HOXB6, HOXA4, AXL, CCDC141, SYCE1, DMRT1, DMRT2, SOHLH1, PADI6, PRLR, STAG3, AKR1C4, CBX2, BRDT, CFAP44, CFAP43, INSL3, KLHL10, PLCZ1, TAF4B, NPAS2, SEPT12, SLC26A8, TEX11, SUN5, ZMYND15, GALNTL5, HHAT, BNC2, ATF3, TOE1, CHD4
Specificity
1 %
Genes
100 %
|
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)
View the complete list with 138 more genes
HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, FGFR3, AR, ARX, CHD7, CREBBP, DHCR7, LEP, LEPR, PCSK1, PTPN11, SOS1, SRY, FGFR2, CDKN1C, GPC3, HBA1, PROP1, PEX1, FIG4, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, FLNA, ATRX, OPHN1, SETBP1, ZEB2, SALL1, SOX10, MID1, MED12, FAT4, WDR35, SOX3, POR, SOX9, PCNT, GLI3, TP63, FBXL4, RIPK4, NR5A1, FGF10, HSD17B3, LHX4, LHX3, SRD5A2, EFNB1, GATA4, CEP41, EVC, EVC2, RBBP8, DHCR24, BMP4, B3GLCT, EPG5, UBR1, WNT5A, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60, PSMC3IP, BMP15, FSHR, MAMLD1, AMH, AMHR2, LHB, FSHB, WDR11, TAC3, CUL7, PDE4D, PTDSS1, KISS1, TRAIP, TWIST2, NR3C1, HS6ST1, MCM9, BMP7, HOXB6, HOXA4, DMRT1, DMRT2, AKR1C4, CBX2, INSL3, HHAT, BNC2, ATF3, TOE1, CHD4
Specificity
1 %
Genes
100 %
|
Macrocephaly.
By MGZ Medical Genetics Center in Germany.
PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12 , (...)
View the complete list with 22 more genes
PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12, CHD8, HUWE1, UPF3B, BRWD3, ABCC6, DNMT3A, NFIX, EZH2, RNF135, GLI3, GPSM2, KIF7, PIK3CA, GNAQ, PIK3R2, AKT3, AKT1, KPTN, TBC1D7, HEPACAM, CCND2, DIS3L2
Specificity
3 %
Genes
100 %
|
IMAGe Syndrome.
By MGZ Medical Genetics Center in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome.
By MGZ Medical Genetics Center in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Russell-Silver Syndrome.
By MGZ Medical Genetics Center in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)
View the complete list with 323 more genes
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2, DHODH, PHKA2, PYGL, G6PC, IDH2, PHKG2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, HEXA, HEXB, PHKB, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFA1, MANBA, MAN2B1, CBS, PYGM, GBE1, SLC6A8, FGFR3, ASPA, ARX, GBA, BRAF, CDKL5, CHD7, CHRNA7, CREBBP, DHCR7, DMD, FOXG1, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, PEX2, MLC1, MCOLN1, PEX1, SUMF1, EIF2B5, NF1, FGFR1, MYH7, L1CAM, WASHC5, FHL1, KIF1A, MTM1, EMD, GRIN2B, GRIN2A, MBD5, DCX, PQBP1, FLNA, SRPX2, KMT2D, SETD2, NEXMIF, WDR45, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A, ANKRD11, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, VPS13B, GFAP, SALL1, ACTB, ACTG1, EDN3, POLR1C, PAX3, EDNRA, EDNRB, SNAI2, SOX10, TCOF1, PRPS1, PEX6, TFAP2A, POLR1D, FUCA1, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, FAT4, PEX26, PEX10, PEX12, RASA1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, CCDC22, THOC2, RAB23, POR, TWIST1, SPRED1, NSUN2, RASA2, RRAS, A2ML1, ABCC6, GNPTG, DNMT3A, NFIX, EZH2, RNF135, GLI3, ABCC9, GPSM2, MITF, TP63, MAGEL2, KDM6A, PITX1, ERCC6, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, PGK1, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, CTC1, TRIM37, GNAS, KIF7, CPLANE1, PIK3CA, GNAQ, ALX1, IDH1, INSR, PIK3R2, AKT3, AKT1, ERCC8, EPG5, PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15, ZNF674, TRAPPC9, GRIK2, CRBN, CC2D1A, ALX3, OBSL1, CCDC8, SNX14, SF3B4, HOXD13, ARHGAP31, FLNB, DDX3X, KAT6A, TRPS1, DOCK6, RBPJ, TBX3, DIS3L2, EOGT, DVL1, DCHS1, NOG, LMBR1, TXNL4A, DLL4, BCL11A, MED13L, STRADA, WAC, HERC2, NXF5, REV3L, PLXND1, NFATC2IP
Specificity
1 %
Genes
100 %
|
Hereditary Cancer Syndromes - panels.
By MGZ Medical Genetics Center in Germany.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)
View the complete list with 80 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, HRAS, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, PMS1, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, POLD1, GREM1, EGFR, POLE, AXIN2, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, NTHL1, XPC, DIS3L2, DDB2, CEP57, RNF43
Specificity
1 %
Genes
100 %
|
Syndromal Diseases - panels.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)
View the complete list with 322 more genes
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2, DHODH, PHKA2, PYGL, G6PC, IDH2, PHKG2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, HEXA, HEXB, PHKB, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFA1, MANBA, MAN2B1, CBS, PYGM, GBE1, SLC6A8, FGFR3, ASPA, ARX, GBA, BRAF, CDKL5, CHD7, CHRNA7, CREBBP, DHCR7, DMD, FOXG1, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, PEX2, MLC1, MCOLN1, PEX1, SUMF1, EIF2B5, NF1, FGFR1, MYH7, L1CAM, WASHC5, FHL1, KIF1A, MTM1, EMD, GRIN2B, GRIN2A, MBD5, DCX, PQBP1, FLNA, SRPX2, KMT2D, SETD2, NEXMIF, WDR45, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A, ANKRD11, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, VPS13B, GFAP, SALL1, ACTB, ACTG1, EDN3, POLR1C, PAX3, EDNRA, EDNRB, SNAI2, SOX10, TCOF1, PRPS1, PEX6, TFAP2A, POLR1D, FUCA1, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, FAT4, PEX26, PEX10, PEX12, RASA1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, CCDC22, THOC2, RAB23, POR, TWIST1, SPRED1, NSUN2, RASA2, RRAS, A2ML1, ABCC6, GNPTG, DNMT3A, NFIX, EZH2, RNF135, GLI3, ABCC9, GPSM2, MITF, TP63, MAGEL2, KDM6A, PITX1, ERCC6, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, PGK1, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, TRIM37, GNAS, KIF7, CPLANE1, PIK3CA, GNAQ, ALX1, IDH1, INSR, PIK3R2, AKT3, AKT1, ERCC8, EPG5, PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15, ZNF674, TRAPPC9, GRIK2, CRBN, CC2D1A, ALX3, OBSL1, CCDC8, SNX14, SF3B4, HOXD13, ARHGAP31, FLNB, DDX3X, KAT6A, TRPS1, DOCK6, RBPJ, TBX3, DIS3L2, EOGT, DVL1, DCHS1, NOG, LMBR1, TXNL4A, DLL4, BCL11A, MED13L, STRADA, WAC, HERC2, NXF5, REV3L, PLXND1, NFATC2IP
Specificity
1 %
Genes
100 %
|
Brain Malformations / Neuronal Migration Disorders.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)
View the complete list with 246 more genes
FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1, HGSNAT, SGSH, GALC, CYP27A1, TPP1, CLN3, FGFR3, ASPA, ARX, ELP1, CDKL5, CHD7, FOXG1, IDS, MEF2C, PCDH19, PORCN, SLC2A1, WDR62, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, CLN6, DOK7, PPT1, MLC1, CLN5, EIF2B5, PHGDH, PLA2G6, EIF2B3, CSTB, SCN1A, NOTCH3, SGCE, FGF8, CASR, L1CAM, FA2H, CACNB4, ASPM, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN1B, SCN2A, SYNJ1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, DEPDC5, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, QARS, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, ATP13A2, SETD2, EEF1A2, NEXMIF, WDR45, SCN8A, NRXN1, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, TREX1, VPS13A, HTRA1, PTCHD1, MID1, MED12, EHMT1, AP1S2, CHD8, ARID1B, NLGN4X, NLGN3, NEU1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, ZMYM3, CLCN4, THOC2, EXOSC3, TUBB2A, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, NFIX, EZH2, RNF135, GLI3, GPSM2, KDM6A, HNRNPDL, MYBPC1, SMARCE1, SMARCA4, SMARCB1, ARID1A, SMARCA2, C19orf12, TUBB4A, ADAR, PGK1, FTL, CP, DCAF17, KIF7, EOMES, PIK3CA, DISP1, GNAQ, PIK3R2, AKT3, AKT1, XK, TDGF1, ADA2, OCLN, KPTN, TBC1D7, HEPACAM, CCND2, TUBG1, TUBB, KIF5C, KIF2A, ZNF674, KCNH5, SEPSECS, NOL3, STUB1, ITM2B, POLR3A, POLR3B, COL4A2, DIS3L2, CLP1, DARS, JAM3, ARHGEF15, HERC2, NXF5
Specificity
1 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome.
By Bioscientia GmbH Center for Human Genetics in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Metaphyseal dysplasia panel.
By Centogene AG - the Rare Disease Company in Germany.
ANKH, RMRP, RUNX2, CDKN1C, FLNA, NKX3-2, MMP13, MMP9
Specificity
13 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By Centogene AG - the Rare Disease Company in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
IMAGE syndrome.
By Centogene AG - the Rare Disease Company in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Syndromic Hearing Loss Panel.
By CeGaT GmbH in Germany.
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)
View the complete list with 42 more genes
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF
Specificity
2 %
Genes
100 %
|
Selected Genetic Syndromes with skeletal involvement Panel.
By CeGaT GmbH in Germany.
RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)
View the complete list with 22 more genes
RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3, MGP, ESCO2, TBX15, CCNQ, CUL7, CEP63, NIN, ORC1, CDC6, CDT1, ORC6, ORC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, TBCE, SF3B4, FGF9, MEOX1, TBX3
Specificity
3 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome,CDKN1C.
By GGA - Galil Genetic Analysis in Israel.
CDKN1C
Specificity
100 %
Genes
100 %
|
CYCLIN-DEPENDENT KINASE INHIBITOR 1C (CDKN1C).
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
CDKN1C
Specificity
100 %
Genes
100 %
|
Cancer Predisposition.
By Asper Biogene Asper Biogene LLC in Estonia.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)
View the complete list with 69 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, HRAS, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, EGFR, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, CYLD, RHBDF2, XPC, DIS3L2, DDB2
Specificity
2 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By Praxis fuer Humangenetik Wien in Austria.
CDKN1C
Specificity
100 %
Genes
100 %
|
IMAGE syndrome.
By Praxis fuer Humangenetik Wien in Austria.
CDKN1C
Specificity
100 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By MedGene in Slovakia.
CDKN1C
Specificity
100 %
Genes
100 %
|
IMAGE syndrome.
By MedGene in Slovakia.
CDKN1C
Specificity
100 %
Genes
100 %
|
Invitae Sarcoma Panel.
By Invitae in United States.
APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)
View the complete list with 6 more genes
APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD, PRKAR1A, NF1, KIT, PDGFRA, WRN, DICER1
Specificity
4 %
Genes
100 %
|
Invitae Multi-Cancer Panel.
By Invitae in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)
View the complete list with 60 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, BLM, HRAS, TSC2, TSC1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, NF1, CASR, MITF, TERC, TERT, SMARCE1, SMARCA4, SMARCB1, KIT, BAP1, CDKN1B, POLD1, GREM1, EGFR, PDGFRA, POLE, AXIN2, POT1, WRN, DICER1, HOXB13, DIS3L2
Specificity
2 %
Genes
100 %
|
Invitae Renal/Urinary Tract Cancers Panel.
By Invitae in United States.
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, FLCN, MET, GPC3, CDC73, SMARCA4 , (...)
View the complete list with 4 more genes
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, FLCN, MET, GPC3, CDC73, SMARCA4, SMARCB1, BAP1, DICER1, DIS3L2
Specificity
5 %
Genes
100 %
|
Invitae Wilms Tumor Panel.
By Invitae in United States.
WT1, CDKN1C, GPC3, DIS3L2
Specificity
25 %
Genes
100 %
|
Invitae Pediatric Solid Tumors Panel.
By Invitae in United States.
VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)
View the complete list with 28 more genes
VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, BLM, HRAS, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, STK11, CDKN1C, SDHD, GPC3, MAX, BMPR1A, SMAD4, PRKAR1A, CDC73, NF1, SMARCE1, SMARCA4, SMARCB1, BAP1, AXIN2, WRN, DICER1, DIS3L2
Specificity
3 %
Genes
100 %
|
Invitae Overgrowth and Macrocephaly Syndromes Panel.
By Invitae in United States.
PTEN, NSD1, CDKN1C, GPC3, NF1, SETD2, PHF6, CUL4B, MED12, SPRED1, DNMT3A, NFIX, EZH2, GLI3, AKT2, PIK3R2, AKT3, KPTN, DIS3L2, NPR2
Specificity
5 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
CDKN1C, H19, KCNQ1OT1
Specificity
34 %
Genes
100 %
|
Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
CDKN1C, KCNQ1, H19, KCNQ1OT1, IGF2
Specificity
20 %
Genes
100 %
|
Beckwith-Wiedemann syndrome: CDKN1C gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
Disproportionate Short Stature: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)
View the complete list with 65 more genes
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, ARSE, CUL7, OBSL1, TBCE, MESP2, HES7, LFNG, GPC6, CHST3, NKX3-2, DLL3, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, TBX6, PAPSS2, ACAN, KIF22, SULF1
Specificity
2 %
Genes
100 %
|
Skeletal Dysplasia: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)
View the complete list with 143 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, TCTN3, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1
Specificity
1 %
Genes
100 %
|
Hereditary Cancer Syndrome: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)
View the complete list with 40 more genes
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, SMARCA4, SMARCB1, MGMT, XRCC2, BAP1, CDKN1B, POLD1, AIP, BUB1B
Specificity
2 %
Genes
100 %
|
Renal Cancer: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
VHL, PTEN, WT1, FH, SDHB, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3
Specificity
10 %
Genes
100 %
|
Disproportionate Short Stature: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)
View the complete list with 56 more genes
ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, CUL7, OBSL1, TBCE, GPC6, CHST3, NKX3-2, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, PAPSS2, KIF22, SULF1
Specificity
2 %
Genes
100 %
|
Hereditary Cancer Syndrome: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)
View the complete list with 35 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, SMARCB1, XRCC2, BAP1, POLD1, BUB1B
Specificity
2 %
Genes
100 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)
View the complete list with 372 more genes
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7
Specificity
1 %
Genes
100 %
|
Skeletal Dysplasias NGS panel.
By Fulgent Genetics Fulgent Genetics in United States.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)
View the complete list with 141 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1
Specificity
1 %
Genes
100 %
|
CDKN1C.
By Fulgent Genetics Fulgent Genetics in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
Comprehensive Cancer Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)
View the complete list with 104 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, TSHR, FANCC, BLM, HRAS, PTPN11, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, MPL, NF1, CASR, ERCC2, ERCC3, FANCB, ATR, EZH2, MITF, TERT, SMARCE1, SMARCA4, SMARCB1, PRSS1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, BAP1, CDKN1B, ERCC4, RBBP8, POLD1, GREM1, PDGFRA, POLE, AXIN2, EXT2, EXT1, AIP, PRKDC, WRN, EGLN1, DICER1, ERCC5, XPA, RAD51, BUB1B, GALNT12, CYLD, HOXB13, XPC, DIS3L2, DDB2, MSH3, ROBO2, PICALM, XRCC3, EXO1, RBM15
Specificity
1 %
Genes
100 %
|
Sarcoma Comprehensive Panel.
By Fulgent Genetics Fulgent Genetics in United States.
APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)
View the complete list with 6 more genes
APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD, PRKAR1A, NF1, KIT, PDGFRA, WRN, DICER1
Specificity
4 %
Genes
100 %
|
Renal / Urinary Cancer Comprehensive Panel.
By Fulgent Genetics Fulgent Genetics in United States.
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)
View the complete list with 7 more genes
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, MITF, SMARCA4, SMARCB1, BAP1, DICER1, DIS3L2
Specificity
4 %
Genes
100 %
|
Comprehensive Hearing Loss and Deafness Panel.
By Blueprint Genetics in Finland.
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)
View the complete list with 159 more genes
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, SUCLA2, MYO7A, TIMM8A, AIFM1, MANBA, MAN2B1, SUCLG1, ALMS1, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, MET, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, SLC33A1, TBC1D24, SPATA5, KCNJ10, SALL1, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, PEX26, RPS6KA3, GPSM2, MITF, SALL4, GJA1, DCAF17, SLC29A3, MGP, LRP2, SLC52A2, SLC52A3, CEP78, RMND1, FDXR, WBP2
Specificity
1 %
Genes
100 %
|
Hereditary Pediatric Cancer Panel.
By Blueprint Genetics in Finland.
VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1 , (...)
View the complete list with 51 more genes
VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1, SDHA, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, TSC2, CBL, TSC1, NSD1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, STK11, CDKN1C, SDHD, GPC3, MAX, BMPR1A, SMAD4, GATA2, PAX5, CEBPA, PRF1, PRKAR1A, CDC73, NF1, LZTR1, NSUN2, RASA2, RRAS, EZH2, SMARCA4, SMARCB1, BAP1, AXIN2, WRN, DICER1, BUB1B, DIS3L2, REST
Specificity
2 %
Genes
100 %
|
Comprehensive Hereditary Cancer Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)
View the complete list with 126 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, ANKRD26, TMEM127, MEN1, SDHA, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, TINF2, SOS2, RIT1, MAP2K2, TSC2, CBL, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, NF1, ERCC2, ERCC3, LZTR1, FANCB, DKC1, SPRED1, NSUN2, RASA2, RRAS, EZH2, MITF, TERC, TERT, SMARCA4, SMARCB1, KIT, KITLG, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, BAP1, CDKN1B, ERCC4, SRP72, POLD1, GREM1, EGFR, PDGFRA, IKZF1, ETV6, POLE, AXIN2, EXT2, EXT1, ELANE, AIP, POT1, SAMD9L, DDX41, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, HOXB13, NTHL1, XPC, POLH, DIS3L2, DDB2, MLH3, ERCC1, CEP57, CD70, EXO1, PPM1D, REST
Specificity
1 %
Genes
100 %
|
Syndromic Hearing Loss Panel.
By Blueprint Genetics in Finland.
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)
View the complete list with 66 more genes
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MYO7A, TIMM8A, MANBA, MAN2B1, ALMS1, HARS2, CHD7, CDKN1C, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, CLPP, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, DNMT1, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, LARS2, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, MYH9, PEX6, SEMA3E, TFAP2A, POLR1D, PEX26, MITF, GJA1, DCAF17, MGP, LRP2, SLC52A2, SLC52A3, FDXR
Specificity
2 %
Genes
100 %
|
Macrocephaly / Overgrowth Syndrome Panel.
By Blueprint Genetics in Finland.
PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, PIGA, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP , (...)
View the complete list with 23 more genes
PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, PIGA, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12, CHD8, HUWE1, UPF3B, BRWD3, DNMT3A, NFIX, EZH2, RNF135, GLI3, GPSM2, KIF7, PIK3CA, DHCR24, PIK3R2, AKT3, AKT1, KPTN, HEPACAM, CCND2, MPDZ, DIS3L2, EED
Specificity
3 %
Genes
100 %
|
Hereditary Renal Cancer Panel.
By Blueprint Genetics in Finland.
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)
View the complete list with 6 more genes
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCA4, SMARCB1, BAP1, DICER1, DIS3L2, REST
Specificity
4 %
Genes
100 %
|
Metaphyseal Dysplasia Panel.
By Blueprint Genetics in Finland.
ANKH, FGFR3, COL10A1, RMRP, RUNX2, CDKN1C, SBDS, FLNA, PTH1R, MMP13, MMP9
Specificity
10 %
Genes
100 %
|
Skeletal Dysplasias Core Panel.
By Blueprint Genetics in Finland.
ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)
View the complete list with 91 more genes
ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2, TCIRG1, PPIB, TNFRSF11B, LMX1B, FGFR3, COL10A1, RMRP, RUNX2, VDR, FGFR2, CDKN1C, SMAD4, SBDS, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PHEX, FGF23, HSPG2, FLNA, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, KAT6B, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, ADAMTSL2, DYM, IFT140, LTBP2, BMPR1B, WDR19, GNPAT, PLS3, BMP1, SERPINH1, TTC21B, IFT80, EVC, EVC2, B3GALT6, EIF2AK3, DHCR24, SMARCAL1, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, ROR2, NEK1, ARSE, CUL7, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, ENPP1, SLC34A3, WISP3, CHST3, DLL3, ACP5, FLNB, LIFR, TRIP11, ADAMTS10, GDF5, TRAPPC2, MATN3, INPPL1, MMP9, NPR2, IHH, XYLT1, DVL1, PAPSS2, ACAN
Specificity
1 %
Genes
100 %
|
Comprehensive Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)
View the complete list with 226 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, ARSB, FGFR3, FANCC, COL10A1, CREBBP, IDS, PTPN11, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PEX7, SLC26A2, TRPV4, LMNA, NF1, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, ANKRD11, SETBP1, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, KAT6B, WDR35, CANT1, PTH1R, FANCB, EBP, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, GNAS, GJA1, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, AKT1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, MATN3, TBX3, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L
Specificity
1 %
Genes
100 %
|
Abnormal Genitalia/ Disorders of Sex Development Panel.
By Blueprint Genetics in Finland.
STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)
View the complete list with 29 more genes
STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, CYP21A2, ATRX, ERCC3, POR, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, CEP41, CYP19A1, DYNC2H1, IL17RD, DHH, ZFPM2, MAP3K1, RSPO1, FRAS1, IRF6, MAMLD1, AMH, AMHR2, MKRN3
Specificity
3 %
Genes
100 %
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)
View the complete list with 288 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, PITX2, OTX2, RAF1, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, SOX2, HESX1, LMX1B, COL5A1, COL5A2, ARSB, FGFR3, FANCC, BRAF, COL10A1, CREBBP, DHCR7, HRAS, IDS, KRAS, MAP2K1, NRAS, PTPN11, RMRP, RUNX2, SHOC2, SOS1, VDR, FGFR2, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PROP1, PEX7, SLC26A2, TRPV4, LMNA, NF1, GHRHR, FGFR1, SHOX, CASR, POU1F1, GH1, GHR, PHEX, FGF23, ANO5, HSPG2, CENPJ, FLNA, ANKRD11, FGD1, SETBP1, LBR, ACTB, ACTG1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, LZTR1, PEX14, PEX19, KAT6B, WDR35, CANT1, PTH1R, MBTPS2, FANCB, EBP, SOX3, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, TRIM37, GNAS, GJA1, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, RBBP8, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, INSR, AKT1, EXT2, EXT1, STAT5B, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, SRCAP, CSPP1, WNT5A, RTTN, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, CCNQ, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CEP63, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, IGF1, MATN3, TBX3, IGF1R, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IGFALS, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L, IRS1
Specificity
1 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By Bioarray in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By Bioarray in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
Beckwith-Wiedemann syndrome.
By Bioarray in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
Silver-Russell syndrome.
By Bioarray in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
PTEN, PLOD1, NSD1, PTCH1, CDKN1C, GPC3, SETD2, DNMT3A, NFIX, EZH2, RNF135, DIS3L2, TMCO1
Specificity
8 %
Genes
100 %
|
CDKN1C Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
CDKN1C
Specificity
100 %
Genes
100 %
|
BECKWITH-WIEDEMANN SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
CDKN1C, H19, KCNQ1OT1
Specificity
34 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome , Sequencing CDKN1C Gene.
By Reference Laboratory Genetics in Spain.
CDKN1C
Specificity
100 %
Genes
100 %
|
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.
By Reference Laboratory Genetics in Spain.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)
View the complete list with 70 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, BAP1, ERCC4, EGFR, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, XPC, DIS3L2, DDB2, CEP57
Specificity
2 %
Genes
100 %
|
Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes.
By Reference Laboratory Genetics in Spain.
NSD1, CDKN1C, H19, KCNQ1OT1
Specificity
25 %
Genes
100 %
|
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.
By Reference Laboratory Genetics in Spain.
APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHAF2, SDHC, FH, SDHB, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)
View the complete list with 5 more genes
APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHAF2, SDHC, FH, SDHB, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD, PRKAR1A, NF1, KIT, WRN, DICER1
Specificity
4 %
Genes
100 %
|
Phosphorus Renal/Urinary Tract Cancer Panel.
By Phosphorus Diagnostics LLC in United States.
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)
View the complete list with 7 more genes
VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, MITF, SMARCA4, SMARCB1, BAP1, DICER1, DIS3L2
Specificity
4 %
Genes
100 %
|
Phosphorus Pan-Cancer Panel.
By Phosphorus Diagnostics LLC in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)
View the complete list with 63 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, FANCC, BLM, HRAS, TSC2, TSC1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, NF1, CASR, MITF, TERC, TERT, SMARCE1, SMARCA4, SMARCB1, KIT, XRCC2, BAP1, CDKN1B, POLD1, GREM1, EGFR, PDGFRA, POLE, AXIN2, AIP, POT1, WRN, DICER1, HOXB13, DIS3L2
Specificity
2 %
Genes
100 %
|
Phosphorus Pediatric Cancers Panel.
By Phosphorus Diagnostics LLC in United States.
VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)
View the complete list with 33 more genes
VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, BLM, HRAS, TSC2, TSC1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, SUFU, STK11, CDKN1C, SDHD, GPC3, MAX, BMPR1A, SMAD4, GATA2, CEBPA, PRKAR1A, CDC73, NF1, EZH2, TERC, TERT, SMARCB1, BAP1, AXIN2, WRN, DICER1, DIS3L2
Specificity
2 %
Genes
100 %
|
Tempus xT assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)
View the complete list with 571 more genes
BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1, SDHAF2, HNF1B, RET, MC1R, MTRR, CASP8, CYP1B1, KIF1B, SDHC, RAF1, FH, IDH2, SOD2, SDHB, TUSC3, ATIC, TAP1, AMER1, BCOR, PRKN, SOX2, ZFHX3, TMEM127, STAT3, MEN1, SDHA, TSHR, FGFR3, AR, CFTR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, FGFR2, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, ENG, PMS1, RAD51D, G6PD, UGT1A1, MPL, BTK, DPYD, DNM2, LMNA, NTRK1, NOTCH3, NF1, FGFR1, FGF8, CASR, FGF23, PDK1, FGF14, CHD2, GRIN2A, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, KDM5C, SETBP1, HGF, ERCC2, ERCC3, SOX10, FGF3, GATA3, MED12, FOXP1, ARID1B, CTNNB1, LZTR1, GATA1, RPL5, RASA1, SEC23B, FANCB, DKC1, RBM10, TAF1, SOX9, SPRED1, MTOR, ABCB1, ATR, NOTCH1, SMAD3, TGFBR2, ACTA2, MYH11, DNMT3A, EZH2, MITF, TP63, KDM6A, CTNNA1, MAF, TERT, NKX2-1, TPM1, ERBB3, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, SPINK1, PRSS1, CTRC, H19, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, CTC1, NHP2, NOP10, GNAS, SMAD2, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, VEGFA, ERCC4, RPS15, GATA4, PIK3CA, MYCN, CSF1R, APOB, POLD1, GREM1, AKT2, GATA6, GNAQ, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, IFNGR1, IFNGR2, IL7R, ABRAXAS1, POLE, AXIN2, GNA11, PIK3R2, AKT3, AKT1, FAS, CXCR4, STAT5B, BCR, PIK3CD, NFKBIA, CIITA, RANBP2, CTLA4, IL10RA, PIK3R1, CD19, MS4A1, NOTCH2, EPOR, TRAF3, TMEM173, POT1, CARD11, NTRK2, IL2RA, CCND2, DYNC2H1, MAP3K1, ASNS, SRC, RUNX1T1, CDK6, CTCF, WRN, EGLN1, UBE2T, PAX8, DICER1, PDGFRB, KMT2B, ERCC5, XPA, RAD51, BUB1B, GALNT12, NSD2, CYLD, FLG, FLT1, KDR, TNFAIP3, LYN, PLCG2, B2M, CD79A, CD79B, FCGR2A, HLA-DQB1, HLA-B, KEL, HLA-DQA1, TYMS, HOXB13, NTHL1, DDX3X, KAT6A, MIB1, XPC, UMPS, FGF9, CCND1, SLC26A3, BCL2, HDAC4, IFNL3, TBX3, CDK12, ARID5B, POLH, MTAP, DIS3L2, DDB2, ABL2, MALT1, MLH3, ETV5, MDM2, DDR2, PALLD, EGF, MAFB, PML, MSH3, ERBB2, CBFB, ERCC1, RARA, TCF3, MLLT3, EPHA2, CDKN2B, CEP57, PTCH2, SMO, BCL6, MYC, BIRC3, CKS1B, CDKN2C, RNF43, RXRA, FAT1, MAD2L2, CD70, AXL, CHD4, CIC, MAP3K7, PPP2R1A, ERBB4, KDM5A, RICTOR, RAC1, GLI1, HLA-DRB1, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, ESR1, RINT1, CYP3A5, XRCC3, PRSS2, BCL10, TNF, CRLF2, AXIN1, EWSR1, FCGR3A, TAP2, PAX7, MAPK1, PIK3CB, CRKL, PIK3CG, FOXA1, GSTP1, IRS2, IRF4, IFNAR2, IL6R, IRF1, DIRC2, EPHB2, ZNF750, RNF139, TCF7L2, RAD54L, PTPN22, GRM3, GPS2, CBR3, MYB, NQO1, CD22, CDKN1A, CCND3, CDK8, NCOR1, CD274, FUBP1, FOXO3, FRS2, FNTB, GEN1, FGF2, ETS1, FGF5, FDPS, TENT5C, FHIT, ERG, FGF1, FGF7, ETS2, FBXO11, ERRFI1, FGF6, EPHA7, ELF3, ECT2L, DOT1L, EBF1, EPHB1, PDCD1LG2, DAXX, PBRM1, PDCD1, PCBP1, DIS3, PAK1, NUP98, NUDT15, CHEK1, VSIR, MKI67, BCL7A, EMSY, BCLAF1, MCL1, C3orf70, MAP2K4, MDM4, C11orf65, ARHGAP26, LMO1, AURKB, ARHGAP35, BCL2L11, LEF1, LRP1B, ITPKB, HSP90AA1, IL15, INPP4B, ING1, IKBKE, IRF2, KLHL6, IFIT1, KLLN, JUN, IFIT3, JAK1, IDO1, IFNAR1, IFIT2, AJUBA, HSPH1, HLA-F, HLA-DRA, HIF1A, HDAC2, HIST1H4E, HAVCR2, HIST1H1E, HLA-DPA1, HLA-DPB1, HLA-E, HLA-DOA, HDAC1, HLA-DMB, HLA-DMA, HLA-DOB, HAS3, HLA-DQA2, HLA-DQB2, PIAS4, PRDM1, PIM1, PPP1R15A, PREX2, PPP2R2A, PIK3C2B, PRCC, TMPRSS2, UGT1A9, TOP2A, TNFRSF9, TNFRSF14, TNFRSF17, ZNF217, XPO1, TIGIT, XRCC1, ZNF620, ZNF471, STAT4, TANC1, SPOP, STAT5A, SOCS1, SLIT2, SPEN, TCL1A, SYK, STAT6, SLC47A2, RSF1, SCG5, SGK1, RPS6KB1, PTPN13, RAD51B, QKI, PTPRD, ABCC3, ACVR1B, BTG1, ETV1, FOXO1, ETV4, HLA-A, BCL11B, H3F3A, BCL2L1, RHOA, NCOR2, SUZ12, SMARCA1, FGF4, P2RY8, TOP1, AURKA, MEF2B, CCDC6, LAG3, HLA-G, PDPK1, SEMA3C, C8orf34, POU2F2, YEATS4, WEE1, TBC1D12, FOXQ1, ZNRF3, PPP6C, HLA-C, HLA-DRB5
Specificity
1 %
Genes
100 %
|
Tempus xO assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)
View the complete list with 1693 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG, LRP5, COL3A1, STAT1, WT1, PAX6, TGFB1, TLR4, RB1, PSEN1, SDHAF2, HNF1B, RET, MC1R, CASP8, COMT, SHH, DSP, KIF1B, SDHC, RAF1, FH, FBN1, GOT1, PRPF6, MERTK, IDH2, SDHB, HAX1, CTSD, PHOX2A, MAOA, AMER1, BCOR, PRKN, PPP2R1B, SOX2, CYP17A1, NCOA4, ZFHX3, TMEM127, STAT3, MEN1, PAX2, PLA2G2A, PHB, TEAD1, MAK, SDHA, IL2RG, TSHR, FGFR3, AR, ARX, ELP1, FANCC, BLM, BRAF, CHD7, CREBBP, FOXG1, GLA, HRAS, KRAS, LDLR, LEPR, MAP2K1, NRAS, PTPN11, RUNX2, SHOC2, SOS1, TINF2, VDR, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, G6PD, UGT1A1, MPL, WAS, BTK, PKHD1, DPYD, NDRG1, EGR2, DNM2, LMNA, NTRK1, WNK1, PSEN2, NOTCH3, PPP2R2B, TBP, NF1, LRRK2, NR0B1, FGFR1, LHCGR, GNRHR, FGF8, HSD11B2, CYP21A2, GHR, FGF23, MYH7, PDK1, CACNA1S, RYR1, FUS, MYBPC3, SYNE1, TMEM43, SMCHD1, MUSK, FGF14, MCPH1, KCNH2, CHD2, GRIN2A, SCN5A, KMT2D, MAGI2, SETD2, TBL1XR1, TCF4, ATRX, PHF6, PAK3, KDM5C, CUL4B, SETBP1, ZEB2, HGF, ERCC2, ERCC3, DIAPH1, DNMT1, PAX3, SOX10, KCNQ1, PTPRQ, CDC14A, FGF3, GATA3, ROR1, DIAPH3, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, ARID1B, CTNNB1, LZTR1, FAT4, KAT6B, GATA1, RPL5, RASA1, FOXP3, PHF8, AFF2, FANCB, DKC1, USP9X, RBM10, BRWD3, TAF1, SOX3, KLF8, ZMYM3, CDK16, RAB23, POR, TWIST1, SOX9, SPRED1, MTOR, ABCB1, GLI2, ATR, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, PRDM5, ACVR1, DNMT3A, NFIX, EZH2, GLI3, CACNB2, PKP2, MITF, RYR2, KCNJ5, AKAP9, TP63, KDM6A, TFG, CTNNA1, CDH3, MAF, TERC, BMPR1B, TERT, SMAD9, CSF2RA, CSF2RB, NKX2-1, ACTC1, PRDM16, NKX2-5, TNNI3, PRKAG2, DSG2, JUP, TPM1, TNNT2, DSC2, MYL2, MYL3, NEK2, NEK9, RIPK4, ERBB3, ARID2, SMARCE1, HELLS, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, NT5C2, VEGFC, TEK, FLT4, SH2D1A, FGF10, PRSS1, WNK3, MBD3, MBD1, ACE, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, DBH, NHP2, NOP10, GNAS, NR3C2, WNT1, CREB3L1, SMAD2, NOD2, KITLG, FANCA, FANCG, FANCF, FANCE, CYP2C19, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, STK3, SLC6A4, BDNF, VEGFA, ERCC4, THPO, USB1, NEK8, GLIS2, PIK3CA, MYCN, IL11RA, CSF1R, HMGCR, DRD2, SLC6A3, ACVR2B, APOA1, PCSK9, APOB, POLD1, GREM1, ABCG1, ABCA1, AKT2, PAX4, BLK, GLIS3, GATA6, GGCX, GNAQ, TBXAS1, HOXA11, GFI1B, RARB, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, CD40LG, IL7R, ZAP70, ABRAXAS1, POLE, AXIN2, GNA11, INSR, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ELANE, XIAP, FASLG, ITK, G6PC3, GFI1, RAC2, STAT5B, PTPRC, BCR, PIK3CD, NFKBIA, FADD, AIP, CIITA, IL12RB1, STK4, NFKB2, ABCC2, CTLA4, IL10RA, VKORC1, PIK3R1, ICOS, IL10RB, PRKDC, TYK2, NOTCH2, EPOR, TRAF3, POT1, CARD11, SAMD9, PRMT7, NTRK2, WNT5A, NFIA, IL2RA, NKX2-2, MNX1, ZBTB20, ZNF423, CCND2, ESCO2, HOXA13, DHH, DNMT3B, ROR2, WNT4, WNT7A, MAP3K1, IRF6, ICK, NEK1, FSHR, MAMLD1, FGF17, CDK5, SRC, RUNX1T1, FLI1, CENPE, CDK6, ZMYND11, SETD5, CLIP1, CTCF, CRBN, ERF, TCF12, CDC6, PLK4, WRN, PLAGL1, ASXL3, PAX8, CYP2R1, CDH7, DICER1, PDGFRB, PDGFB, KMT2B, CAMTA1, ERCC5, FGF12, MAPK10, XPA, PRDM8, RAD51, BUB1B, GALNT12, NSD2, HOXD13, NKX3-2, ALOX12B, CYLD, CTNNA3, FLG, NLRP1, FLT1, KDR, WNT10A, ZNF384, TNFAIP3, NCSTN, LYN, PSENEN, CARD8, HTR1A, PLCG2, GATA5, KDSR, B2M, ASCL1, GDNF, CUL3, WNK4, LIFR, SLCO1B1, SLCO1B3, VAV1, BLNK, CD79A, CD79B, CYP2C9, NGF, HOXD10, HLA-B, KEL, DHFR, HOXB13, DDX3X, KAT6A, GRB10, HOXA3, CDK19, MAP3K3, RBPJ, XPC, HR, FGF9, TMC6, CYP1A2, TMC8, TWIST2, NR3C1, IGF1, CCND1, SLC26A3, BCL2, HDAC4, TBX3, CDK12, PRPF40B, ARID5B, CEBPE, MTAP, DDB2, DUSP22, ABL2, NFKB1, IL21R, SMAD6, MALT1, FBXW11, MLH3, ETV5, IGF1R, WNT10B, MDM2, DDR2, RNF213, CTNNA2, PALLD, EGF, SOX17, MAFB, AURKC, PML, MSH3, DEK, TRAF3IP2, IL17RA, ROBO2, PICALM, WNT3, ERBB2, CBFB, PAX9, ERCC1, RARA, TCF3, PBX1, ZBTB16, TAL1, AFF3, CYP3A4, NUP214, ADRB2, MN1, NAT2, MLLT3, EPHA2, MLLT1, CDKN2B, PTPRF, FGF20, PTCH2, YWHAE, SMO, LRP6, BCL6, MYC, BIRC3, RPN1, MECOM, CKS1B, CDKN2C, IGF2R, IHH, HOXC13, OSMR, DCC, RNF43, DVL1, TBX18, CYP2A6, CYP4F2, RXRA, GPC5, TNK2, FAT1, NUP93, PRRX1, MAP3K8, MAD2L2, CD70, CHD1L, PRDM12, NONO, NRTN, PRDM13, AXL, KDM1A, SMARCD2, BCL11A, PRLR, CBX2, BRDT, CHD4, TET1, MAPK8, CIC, MAP3K7, TRIO, ASH1L, KMT5B, KAT2B, HDAC6, PPP2R1A, JMJD1C, ERBB4, NKX2-6, TBX22, EED, DVL3, CTNND1, TRAF3IP1, KDM6B, CNKSR1, KDM5A, SETD1A, PARP1, NRIP1, EIF1AX, RICTOR, RAC1, PRKD1, MXD1, DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1, CYP3A5, BCL10, KLF6, ADAM17, PHIP, CYP2B6, CDK11A, YAP1, XBP1, TLR5, LCK, IKBKB, ARNT2, INHBA, MLF1, CRLF2, ABI1, EGR1, PTPRT, MYBL2, SLC19A1, ADRB1, AXIN1, UBR5, ELP3, EWSR1, TAF15, PRKAR1B, DRD1, FGF16, SP110, RHOH, PAX1, CHD1, RBMXL2, PRDM9, ESR2, SMAD1, PERP, PPARA, TRIB1, EPHB4, SOX1, SEM1, PAX7, IL17RC, MAP3K14, DOCK2, SPRY2, CRK, GAB2, MAPK1, PIK3CB, CRKL, PIK3CG, TRAF6, FOXA2, FOXA1, FOLH1, RBM15, TBL1X, HTR2A, HSD3B1, BAX, PAK5, ABCG2, CHUK, CD44, CSNK1D, CREB1, FKBP5, GLCCI1, IL23R, IL4R, IRS2, HMGA1, IRF4, IRS1, HMGA2, PGR, IRF5, IL6R, MIPOL1, SMAD7, TLR2, TLR1, DIAPH2, EPHB2, ZNF750, ALOX5, MAD1L1, PRKACA, NR4A2, POU6F2, PPM1D, TCF7L2, SSTR5, RAD54L, RAD54B, PTGIS, GRB7, GRM3, GRK5, GRM8, GSK3B, GRK4, GPS2, GRB2, MYOD1, CBFA2T2, CBX8, NAB2, MYBL1, CDC20, NEK10, NFKBIE, CCNE2, NEK3, CDC25A, NOTCH2NLA, CDC25B, CDH2, NPR1, NCK2, NOTCH4, NFKBID, NCOA3, CDK9, CDK17, CDC25C, CDX2, CD80, CBX5, NFATC4, CD28, CES2, CDK14, CBX6, CCNB3, CCNL1, CDK2, CDK7, NEK5, CDH5, CEBPZ, CDH11, CDK20, CBX4, MYB, NKX2-3, NCK1, CDKN3, NQO1, NFATC1, CECR2, CDK3, CD22, CD1D, NKX3-1, NFIB, NEK7, NEK6, CDH20, CDKN1A, CDK10, CCND3, NEK4, CDK8, CDC42, NAB1, CDK1, NFATC3, CD276, MTDH, CDH10, CD86, NCOA1, CDK18, NEK11, NPPB, CDK15, CEBPG, CBX1, NCOR1, CD274, NCOA2, NFKBIZ, FLT3LG, FUBP1, GAB1, FRK, FOXO3, FRS3, FOS, FYN, FOSL2, FZR1, GABPA, FRS2, FOXP4, FOXO4, FOXN3, FOXL1, FOXA3, FOXM1, FGF2, ETS1, ETV2, FGF5, FGF18, TENT5C, FAT2, EXTL1, FEN1, FHIT, FER, FES, ETV3, ERG, ESRRA, FGF1, FGF7, EZH1, ETV7, ETS2, FBXO11, EREG, ESCO1, ESPL1, FBXO8, FGF6, ETV3L, FGR, FEV, FAT3, EPHA7, PHF1, ELF3, ELF2, DVL2, E2F3, ELF4, ECT2L, DNMT3L, PDS5B, EPHB3, EPGN, DMXL1, EPHA4, EPHA8, EHMT2, PHF2, EPHA5, EHF, EPHB6, PEG3, DYRK2, ELK3, ELF1, EPHA1, DOT1L, EBF1, E2F7, EPHA3, E2F6, ELF5, ELK4, EPHB1, PDCD1LG2, PDGFD, DCUN1D2, CYP2C8, DAXX, DDIT3, PBRM1, PDCD1, DIRAS3, DDX5, PBX2, PAXIP1, CYP2J2, PCBP1, DIS3, PAK6, PAK4, PARP2, PDGFC, DDR1, PATZ1, DDX6, DCUN1D1, PARP4, PAK1, CRTC2, CTCFL, CREB3L4, CREM, CSK, CTSS, COPS3, CSNK1E, CRTC3, CRTC1, CTSL, CSF1, CNTFR, CHD6, NUMB, NUP98, CNOT3, CARD10, NRG3, CHD3, CHIC2, CARD6, MSH4, CADM2, CHD9, NUMBL, CHEK1, NUTM2G, CMPK1, MST1, ODC1, MST1R, CHD5, CAPRIN2, NUTM1, NUTM2F, NR4A1, MAP2K6, MAU2, MAP4K1, MAP3K4, MAP3K15, BRPF1, MAD2L1, BTG2, BRPF3, BRD1, MAP3K5, MRTFB, MED29, MAPK9, BCL7A, MAP4K4, MLST8, BMI1, MAPK4, MAP4, BID, BRD9, BIRC5, MAML2, EMSY, BRD8, MED12L, BRD7, BRWD1, BCLAF1, MAP3K12, MAPK15, MAP3K2, MOS, MAML3, MAP3K19, MCL1, BTC, MAPK7, BIRC2, MRTFA, MOB1A, MAP2K7, BTRC, BRD3, MAP4K5, BCL9, MAP4K3, MAGED1, MAP2K4, MAP3K9, MATK, MAML1, MLLT10, MDM4, MAST2, MAP3K13, BUB1, BPTF, MAP4K2, MAPK6, MAST1, MAP2K3, MINK1, MAP2K5, MLLT11, MOB1B, MGA, BIRC8, MPG, BCL2A1, BABAM1, ARHGAP26, LGR4, ARFRP1, LATS2, ATAD2B, ASH2L, LDB1, ASCL4, ASCL3, BCAR3, LATS1, ATF1, LMO1, AURKB, BCL2L2, ATAD2, BACH1, ARPC1A, LMTK3, ARHGAP35, ASXL2, LMTK2, LMO7, BACH2, BAZ2B, BCL2L11, BAZ2A, ARNT, LSM1, LPP, APH1A, LGR5, LGR6, LEF1, BAZ1A, LRP1B, APEX1, ASPSCR1, LTK, BAG4, BAZ1B, ARPC1B, JARID2, JMJD4, IL20RB, ITPKB, KDM4A, HNRNPA3, HSP90AA1, HSP90AB1, IKZF3, IL22RA1, IL22RA2, ID2, IFNLR1, JMJD6, IQGAP1, IL3, KMT2E, KLF12, KDM3A, IL17RB, INPP4B, IQGAP2, ING1, IL18R1, IKBKE, JAZF1, IL6ST, KDM4B, KDM5B, HOXB3, IL20RA, HOXA9, ING4, JMJD8, MAP3K21, KDM8, IL1R1, JMJD7, HSPBAP1, IRS4, KMT5A, INTS12, HOXC10, KAT7, KDM1B, HOXA10, IRAK1, KDM4C, KLF5, JUN, KAT2A, JAK1, IL12RB2, KDM4D, KDM2B, ID3, KDM3B, KAT8, HOXD4, IL1RAP, KDM7A, IL5RA, IKBIP, KDM2A, IQGAP3, IL1R2, JUNB, ID1, IKZF2, HOXD3, JADE1, AJUBA, IL18RAP, HDAC7, HCK, HDAC11, HIF1A, HDAC2, HIST1H4E, HDAC10, HIST1H1E, GTPBP4, HEY1, HDAC9, HDAC3, HDGF, HBEGF, HDAC1, HIF1AN, HIST1H3B, HEY2, HLTF, PHLPP2, PIK3C3, PRDM1, PIM2, POU5F1, PLK1, PRMT1, PRDM2, PMAIP1, PIM1, POU5F2, PLK3, POU2AF1, PIK3C2A, POU5F1B, PRMT6, PPARD, PPFIA1, PRDM6, PIK3R3, PRSS3, PLAGL2, PRDM7, PRDM11, PPP1R1C, PREX2, POU6F1, PLK2, PRDM14, PRKCI, PNRC1, PIK3C2B, PRMT3, PRCC, PRMT8, PRDM4, PIK3R4, PLCG1, PLAG1, PRDM10, PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1, UHRF2, TYRO3, TRAF3IP3, TRIB3, TNK1, TXK, UBE2D2, TRAF7, TNFRSF17, VAV2, VHLL, TLX2, WAPL, TRAF2, TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH, WNT6, YWHAB, WISP1, ZNF607, TLR10, WNT16, WWTR1, WNT7B, TGFA, WNT8B, WNT5B, ZMYND8, WNT2, TLR8, TLK2, ZC3H7B, ZNF471, ZNF668, WNT2B, NSD3, TLR7, WNT11, ELOC, TBX2, SSX3, SPIC, SRGAP3, STAT4, KMT5C, SMURF2, SULT1A1, SP100, SOX8, SS18, SSX1, TFEC, SPOP, TCF7, SP140, SPRED2, STAT5A, TERF1, SPI1, SP140L, TEAD2, TENM2, SMYD4, TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6, SSTR1, SMAD5, SUV39H1, STAT6, SLC47A2, SSTR3, SMC2, SLC47A1, TAOK3, RSPO2, SKOR1, RIPK3, RYK, SETD9, SETD3, RPA1, RPS6KB2, SLC15A2, REL, SETDB1, ROCK1, SETMAR, REC8, RHOB, RHEB, RSPO3, SAV1, SKP2, SLC22A1, ROCK2, SH3GL1, SLC22A6, SETD4, SHC1, SHC4, SLC22A2, RIPK1, RELA, SF3A1, RNF40, SF1, SGO1, SLC22A3, SETD7, RHOT1, SFRP1, SGO2, SETDB2, RIPK2, RUVBL1, SGK1, SKIL, RPS6KB1, RUNX3, SHB, SETD1B, RAB25, PTK6, PTPRB, PVT1, PRSS8, PTK7, RAD52, RBM14, PTPRJ, RAD51B, PTPRR, PTGS1, PTTG1, PTPRG, PSIP1, RAD51AP1, PTGS2, PTK2, PTK2B, PTPRM, PTPRK, PTPN21, PTPN2, PSPN, RABEP1, PTPRD, PTPN6, ADGRL2, ADGRB3, ADAMTS20, ACVR1B, ACSL6, ACVR2A, AATK, ABCC1, AFF1, AHR, ADGRL3, ADGRA2, BTG1, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, SSX2, NUTM2A, NUTM2B, HLA-A, BCL11B, CDK13, KLF4, H3F3A, BCL2L1, RHOA, HES1, FGF19, NCOR2, SUZ12, SMARCA1, FGF4, MAP3K6, TOP1, AURKA, MEF2B, ZNF703, GID4, MAPK3, TRIM33, WIF1, SFPQ, LYL1, MDS2, RAP1GDS1, LMO2, HOXC11, TAL2, MLLT6, HLF, OLIG2, CBFA2T3, CCDC6, TLX1, HOXD11, MTCP1, NKX2-8, ICOSLG, USP9Y, CES1, PDPK1, POU2F2, YEATS4, TBC1D12, FOXQ1, ZNRF3, PPP6C, RELB, CDX1, E2F5, TRIM24, SMYD2, HDGFL3, MAPK12, EPHA6, SMARCD1, VEGFD, ASCL5, GFRA4, PRRX2, KDM5D, PBX3, BMX, MAPK11, VGLL2, FGF21, CKS2, JUND, CDK11B, TRIM28, CHIC1, TEF, WNT9A, UTY, CUL4A, SMARCC1, SOX21, NRG2, GLIS1, CASC11, WASL, KHSRP, PAK2, MAP3K11, PDGFA, MAP3K10, PIM3, SETD6, MAPK14, ASCL2, HES2, NKX2-4, BTG3, DACH2, PDS5A, CBX3, NRG4, MAPK13, IL3RA, ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1, ID4, FGF22, ZNF444, FKBP9, HDAC5, IL2RB, TCL1B, IL9R, NFIC, CEBPD, HES4, IL13RA1, SHC3, CBX7, BUB3, INSRR, WNK2, ARTN, SSTR4, PHLPP1, GUCY1A2, FOSB, SMURF1, BBC3, SRMS, PGF, NFKBIB, FGF13, KAT5, PBX4, PRKACB, AREG, CEBPB, E2F1, PRDM15
Specificity
1 %
Genes
100 %
|
Wilms Tumor: Gene Deletion/Duplication Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
WT1, CDKN1C
Specificity
50 %
Genes
100 %
|
Renal Cancer: Gene Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
VHL, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)
View the complete list with 3 more genes
VHL, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1, BAP1, BUB1B
Specificity
5 %
Genes
100 %
|
Renal Cancer: Gene Deletion/Duplication Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
VHL, MSH2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1 , (...)
View the complete list with 2 more genes
VHL, MSH2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1, BAP1, BUB1B
Specificity
5 %
Genes
100 %
|
Wilms Tumor: Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
WT1, CDKN1C
Specificity
50 %
Genes
100 %
|
Hereditary Cancer Syndrome: Gene Sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)
View the complete list with 40 more genes
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, SMARCA4, SMARCB1, MGMT, XRCC2, BAP1, CDKN1B, POLD1, AIP, BUB1B
Specificity
2 %
Genes
100 %
|
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)
View the complete list with 35 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, SMARCB1, XRCC2, BAP1, POLD1, BUB1B
Specificity
2 %
Genes
100 %
|
IMAGe Syndrome: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
CDKN1C
Specificity
100 %
Genes
100 %
|
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Is also known as image syndrome;intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome.