Pituitary Adenoma, Prolactin-secreting

Description

Prolactin-secreting pituitary adenoma, or prolactinoma, is the most common type of hormonally active pituitary adenoma. These tumors can also be seen as a feature of multiple endocrine neoplasia type I (MEN1 ).See also {102200} for a discussion of familial isolated pituitary adenoma (FIPA) and acromegaly due to a growth hormone (GH )-secreting pituitary adenoma, which are also caused by mutation in the AIP gene.Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.

Genes related to Pituitary Adenoma, Prolactin-secreting

PRL
CEBPD
BMP4
MEN1
CDH23
AIP

Clinical Features

Top most frequent phenotypes and symptoms related to Pituitary Adenoma, Prolactin-secreting

Seizures
Ptosis
Milia
Blindness
Fatigue
Vomiting
Osteoporosis
Hypogonadism
Headache
Osteopenia

And another 43 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Pituitary Adenoma, Prolactin-secreting Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRL. By Fulgent Genetics Fulgent Genetics in United States. PRL Specificity 100 % Genes 17 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 50 %
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...) View the complete list with 9 more genes Panel GTR000553010 complete gene list ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2, SIX6, BCOR, HCCS, STRA6, NHS, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 17 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...) View the complete list with 52 more genes Panel GTR000528876 complete gene list 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, AKR1C2, UBR1, TCTN3, B3GLCT, BMP4, DHCR24, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SCARF2, RIPK4, SOX9, POR, FAT4, SALL1, SETBP1, OPHN1, ATRX, ANOS1, KISS1R, LHCGR, NR0B1, LMNA, FIG4, CDKN1C, SRY, PTPN11, DHCR7, CREBBP, CHD7, ARX, AR, CYP17A1, MKS1, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, CYP11B1, MKKS, WT1, STAR Specificity 2 % Genes 17 %
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 Panel GTR000531740 complete gene list 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 17 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis. By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1 , (...) View the complete list with 2 more genes Panel GTR000552070 complete gene list REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1, EYA1, INVS Specificity 5 % Genes 17 %
BMP4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. BMP4 Specificity 100 % Genes 17 %
Microphthalmia syndromic 6 (sequence analysis of BMP4 gene). By CGC Genetics in Portugal. BMP4 Specificity 100 % Genes 17 %
Craniosynostosis (NGS panel for 30 genes). By CGC Genetics in Portugal. TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...) View the complete list with 10 more genes Panel GTR000523916 complete gene list TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, ALPL, RECQL4 Specificity 4 % Genes 17 %
Microphthalmia (NGS panel for 26 genes). By CGC Genetics in Portugal. SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...) View the complete list with 6 more genes Panel GTR000525244 complete gene list SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 17 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics in Portugal. HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1 Specificity 6 % Genes 17 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics in Portugal. HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1 Specificity 6 % Genes 17 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. BMP7, SMOC1, ALDH1A3, TENM3, BMP4, CRYBA4, VSX2, FOXE3, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX Specificity 6 % Genes 17 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DSTYK, CHD1L, HOXA4, HOXB6, CDC5L, GREB1L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, TBX18, FGF20, ITGA8, PBX1, ROBO2, AGT, SOX17, HPSE2, LIFR , (...) View the complete list with 29 more genes Panel GTR000530716 complete gene list DSTYK, CHD1L, HOXA4, HOXB6, CDC5L, GREB1L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, TBX18, FGF20, ITGA8, PBX1, ROBO2, AGT, SOX17, HPSE2, LIFR, SRGAP1, REN, MUC1, LRP4, FRAS1, WNT4, HOXA13, FREM2, GRIP1, BMP4, FREM1, ACE, SOX11, GLI3, GLI2, FAT4, FOXP1, MYH9, GATA3, SIX1, SIX5, SALL1, UMOD, NIPBL, FGFR2, PAX2, RET, HNF1B, EYA1 Specificity 3 % Genes 17 %
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 Panel GTR000553215 complete gene list 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 17 %
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 Panel GTR000553216 complete gene list 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 17 %
Cleft lip, cleft palate and related disorders NGS panel. By Connective Tissue Gene Tests in United States. TBX22, SUMO1, TGDS, NECTIN1, MSX1, GRHL3, FOXE1, IRF6, BMP4, SATB2, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 6 % Genes 17 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TBX22, SUMO1, TGDS, NECTIN1, MSX1, GRHL3, FOXE1, IRF6, BMP4, SATB2, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 6 % Genes 17 %
Cleft lip, cleft palate and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. TBX22, SUMO1, TGDS, NECTIN1, MSX1, GRHL3, FOXE1, IRF6, BMP4, SATB2, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 6 % Genes 17 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 34 %
Eye Diseases - panels. By MGZ Medical Genetics Center in Germany. OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...) View the complete list with 147 more genes Panel GTR000552433 complete gene list OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, ATOH7, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, ASPH, COL4A2, ADAMTS10, FAM126A, ADAMTSL4, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ERCC5, COL18A1, C12orf57, LRP2, FRAS1, FREM2, GRIP1, TBC1D20, EPG5, COL17A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RARB, RAB18, FTL, GJA1, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, CHST6, LRMDA, SLC24A5, GDF6, ZNF469, PRDM5, ZIC2, TGIF1, TFAP2A, MYH9, SLC4A11, COL11A2, COL11A1, COL9A2, ERCC2, COL9A3, COL9A1, ACTG1, ACTB, VPS13B, TREX1, TUBB2B, SIX3, RAB3GAP1, COL4A1, SIL1, SLC33A1, ADAMTS2, GLA, CHD7, GSN, PAX2, KRT3, COL5A2, COL5A1, FZD4, KIF21A, MYOC, HESX1, SOX2, CYP4V2, SIX6, CYP27A1, GALK1, CBS, BCOR, HCCS, FRMD7, STRA6, GJA3, PHOX2A, TMEM126A, FYCO1, MTPAP, FBN1, OPA3, CRYAB, MFN2, SHH, NHS, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, WFS1, ABCB6, OPA1, GPR143, TYR, TUBB3, TGFBI, ZEB1, PAX6, SLC45A2, VSX1, OCA2, COL3A1, COL2A1, LRP5, EYA1, TYRP1, RAX, FOXL2, C12orf65 Specificity 1 % Genes 17 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center in Germany. UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...) View the complete list with 97 more genes Panel GTR000552435 complete gene list UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT, SOX17, HPSE2, ETV5, LRIG2, SLC7A9, SEC63, WNK4, CUL3, MYO1E, CLCN5, PAX8, REN, MUC1, CRB2, FRAS1, WNT4, FREM2, GRIP1, APPL1, PRKCSH, HOGA1, SMARCAL1, ITGA3, COQ8B, BMP4, FREM1, BLK, KLF11, PAX4, GREM1, ZIC3, KLHL3, APOL1, DGKE, NOD2, CD2AP, ACE, ACTA2, CLCNKA, MYH9, GATA3, SIX1, SIX5, SALL1, OFD1, KCNJ10, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, ACTN4, SLC12A3, LAMB2, COL4A4, UMOD, INF2, HNF4A, PDX1, INS, ANOS1, CASR, KCNJ11, CEL, WNK1, PKHD1, ABCC8, GRHPR, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, SLC3A1, AGXT, COQ2, CYP24A1, COQ6, PDSS2, COQ9, GCK, OCRL, RET, HNF1B, WT1, EYA1, NEUROD1, HNF1A, ALPL, VHL Specificity 1 % Genes 17 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC). By MGZ Medical Genetics Center in Germany. SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18 , (...) View the complete list with 28 more genes Panel GTR000521108 complete gene list SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18, GJA1, RAB3GAP2, ERCC6, GDF6, ZIC2, TGIF1, TFAP2A, ERCC2, VPS13B, SIX3, RAB3GAP1, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, CYP1B1, OTX2, NDP, MFRP, OCRL, ABCB6, RAX, FOXL2 Specificity 3 % Genes 17 %
Microphthalmia syndromic type 6. By Centogene AG - the Rare Disease Company in Germany. BMP4 Specificity 100 % Genes 17 %
Microphthalmia panel. By Centogene AG - the Rare Disease Company in Germany. TENM1, ALDH1A3, TENM3, BMP4, VSX2, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX Specificity 8 % Genes 17 %
Orofacial cleft type 11. By Centogene AG - the Rare Disease Company in Germany. BMP4 Specificity 100 % Genes 17 %
Cleft lip/palate panel. By Centogene AG - the Rare Disease Company in Germany. SUMO1, NECTIN1, MSX1, IRF6, BMP4, TP63 Specificity 17 % Genes 17 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel. By CeGaT GmbH in Germany. ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...) View the complete list with 12 more genes Panel GTR000522445 complete gene list ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8, TFAP2A, GATA3, SIX1, SIX5, GATA2, PAX2, NPHP3, FOXC1, RET, HNF1B, WT1, EYA1 Specificity 4 % Genes 17 %
Microphthalmy Panel. By CeGaT GmbH in Germany. SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...) View the complete list with 6 more genes Panel GTR000522503 complete gene list SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 17 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis. By Asper Biogene Asper Biogene LLC in Estonia. SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...) View the complete list with 15 more genes Panel GTR000553195 complete gene list SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, CYP1B1, OTX2, MFRP, PITX2, FOXC1, ABCB6, PAX6, VSX1, EYA1, RAX Specificity 3 % Genes 17 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 34 %
Developmental Eye Disease panel. By Molecular Vision Laboratory in United States. DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...) View the complete list with 39 more genes Panel GTR000521504 complete gene list DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, RAB18, RAB3GAP2, FOXE3, GDF6, NAA10, SOX3, FOXC2, ZEB2, CASK, SIX3, RAB3GAP1, COL4A1, LARGE1, ISPD, POMT1, POMT2, LAMB2, FKRP, FKTN, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, STRA6, CRX, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, ABCB6, PITX3, PAX6, RAX Specificity 2 % Genes 17 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4 Specificity 1 % Genes 17 %
Invitae Microphthalmia/Anophthalmia Disorders Panel. By Invitae in United States. PXDN, ALDH1A3, PRSS56, BMP4, VSX2, FOXE3, GDF6, PAX2, SOX2, BCOR, STRA6, SHH, OTX2, MFRP, RAX Specificity 7 % Genes 17 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...) View the complete list with 3 more genes Panel GTR000512371 complete gene list SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6 Specificity 5 % Genes 17 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 34 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...) View the complete list with 3 more genes Panel GTR000558531 complete gene list SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6 Specificity 5 % Genes 17 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 34 %
BMP4. By Fulgent Genetics Fulgent Genetics in United States. BMP4 Specificity 100 % Genes 17 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 1 % Genes 17 %
Renal Malformation Panel. By Blueprint Genetics in Finland. DSTYK, PBX1, ROBO2, AGT, REN, CCNQ, FREM2, BMP4, FREM1, ACE, ACTG2, FANCB, FOXC2, GATA3, SIX1, SIX5, SALL1, PAX2, RET, HNF1B , (...) View the complete list with 2 more genes Panel GTR000552727 complete gene list DSTYK, PBX1, ROBO2, AGT, REN, CCNQ, FREM2, BMP4, FREM1, ACE, ACTG2, FANCB, FOXC2, GATA3, SIX1, SIX5, SALL1, PAX2, RET, HNF1B, WT1, EYA1 Specificity 5 % Genes 17 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel. By Blueprint Genetics in Finland. COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...) View the complete list with 34 more genes Panel GTR000552747 complete gene list COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1, ERCC6, RBP4, FOXE3, MITF, ZIC2, NAA10, TFAP2A, ERCC2, VPS13B, SIX3, RAB3GAP1, PQBP1, COL4A1, SMCHD1, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, ABCB6, PAX6, RAX, FOXL2 Specificity 2 % Genes 17 %
Craniosynostosis Panel. By Blueprint Genetics in Finland. NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...) View the complete list with 17 more genes Panel GTR000552770 complete gene list NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, SOX10, EDNRB, PAX3, FGFR1, FGFR2, FGFR3, ALPL, RECQL4 Specificity 3 % Genes 17 %
Orofacial cleft 11. By Bioarray in Spain. BMP4 Specificity 100 % Genes 17 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2 , (...) View the complete list with 3 more genes Panel GTR000558218 complete gene list SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2, MFRP, ABCB6, RAX Specificity 5 % Genes 17 %
Cleft Lip with or without Cleft Palate , Sequencing BMP4 Gene. By Reference Laboratory Genetics in Spain. BMP4 Specificity 100 % Genes 17 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. GDF3, BMP4, VSX2, VAX1, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, ABCB6, RAX Specificity 8 % Genes 17 %
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 Panel GTR000508280 complete gene list 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 34 %
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 17 %
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 17 %
Hereditary Endocrine Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. CDC73, PRKAR1A, MAX, SDHD, TSHR, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 7 % Genes 17 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...) View the complete list with 41 more genes Panel GTR000553691 complete gene list RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, CBL, PTPN11, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
MEN1 DNA Sequencing Test. By Athena Diagnostics Inc in United States. MEN1 Specificity 100 % Genes 17 %
Multiple endocrine neoplasia, type 1. By Center for Human Genetics, Inc in United States. MEN1 Specificity 100 % Genes 17 %
Inherited Cancer Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...) View the complete list with 29 more genes Panel GTR000528534 complete gene list CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
VistaSeq Brain/CNS/PNS Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. SMARCB1, NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, MEN1, RB1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 17 %
VistaSeq Endrocrine Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL Specificity 8 % Genes 17 %
Comprehensive Hereditary Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...) View the complete list with 34 more genes Panel GTR000551352 complete gene list DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, CBL, PTPN11, BLM, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, SDHC, RET, SDHAF2, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
Hereditary Pheochromocytoma and Paraganglioma Panel. By Genetic Services Laboratory University of Chicago in United States. EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 8 % Genes 17 %
Hyperparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. AP2S1, GNA11, CDKN1B, PTH1R, CASR, CDC73, MEN1, RET Specificity 13 % Genes 17 %
Hyperparathyroidism Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. AP2S1, GNA11, CDKN1B, PTH1R, CASR, CDC73, MEN1, RET Specificity 13 % Genes 17 %
MEN1. By Institute for Human Genetics University Clinic Freiburg in Germany. MEN1 Specificity 100 % Genes 17 %
Multiple Endoctine Neoplasia Type 1 (MENIN). By Molecular Genetics Laboratory London Health Sciences Centre in Canada. MEN1 Specificity 100 % Genes 17 %
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 17 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2 , (...) View the complete list with 27 more genes Panel GTR000522559 complete gene list CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, NBN, ATM, ALK, TSC1, TSC2, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
MEN Type 1 (MEN1) Seq, Del/Dup. By ARUP Laboratories, Molecular Genetics and Genomics in United States. MEN1 Specificity 100 % Genes 17 %
MEN Type 1 (MEN1) Del/Dup. By ARUP Laboratories, Molecular Genetics and Genomics in United States. MEN1 Specificity 100 % Genes 17 %
MEN Type 1 (MEN1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. MEN1 Specificity 100 % Genes 17 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel. By GeneDx in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 17 %
Hereditary Cancer Panel - Neuro17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 17 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 6 % Genes 17 %
BrainTumorNext. By Ambry Genetics in United States. DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53 , (...) View the complete list with 7 more genes Panel GTR000560499 complete gene list DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 8 % Genes 34 %
CancerNext-Expanded. By Ambry Genetics in United States. HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...) View the complete list with 44 more genes Panel GTR000560508 complete gene list HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
CustomNext: Cancer. By Ambry Genetics in United States. NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...) View the complete list with 48 more genes Panel GTR000560526 complete gene list NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 34 %
MEN1 gene sequence and deletion/duplication. By Ambry Genetics in United States. MEN1 Specificity 100 % Genes 17 %
PGLNext. By Ambry Genetics in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 17 %
MEN1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MEN1 Specificity 100 % Genes 17 %
MEN1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MEN1 Specificity 100 % Genes 17 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000530255 complete gene list WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Hereditary Paraganglioma/Pheochromocytoma Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 17 %
Hereditary Endocrine Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CDKN1B, CDC73, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 7 % Genes 17 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...) View the complete list with 86 more genes Panel GTR000530264 complete gene list DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, POLD1, ERCC4, CDKN1B, BAP1, FANCG, FANCA, KIT, PRSS1, SH2D1A, SMARCB1, SMARCA4, SMARCE1, DOCK8, DKC1, ERCC3, ERCC2, NF1, MPL, SERPINA1, RAD51D, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, CDH1, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, CBL, RMRP, PTPN11, HRAS, GJB2, BLM, GBA, FANCC, SDHA, MEN1, HAX1, SDHB, FAH, FH, SDHC, SLC25A13, RET, SDHAF2, RB1, ABCB11, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, HFE, BRCA2, BRCA1 Specificity 1 % Genes 17 %
Hereditary Brain Tumor Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMARCB1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 17 %
Multiple Endocrine Neoplasia Type 1 (deletion/duplication analysis of MEN1 gene). By CGC Genetics in Portugal. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1 (sequence analysis of MEN1 gene). By CGC Genetics in Portugal. MEN1 Specificity 100 % Genes 17 %
OncoRisk (NGS panel for 48 genes). By CGC Genetics in Portugal. EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...) View the complete list with 28 more genes Panel GTR000525282 complete gene list EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, PALB2, NF2, PHOX2B, NBN, ATM, NSD1, MEN1, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, EPCAM, APC, VHL, BRCA2, MSH2, BRCA1 Specificity 3 % Genes 17 %
OncoRisk Plus (NGS panel for 89 genes). By CGC Genetics in Portugal. CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...) View the complete list with 69 more genes Panel GTR000525735 complete gene list CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 34 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes). By CGC Genetics in Portugal. GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 7 % Genes 17 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes). By CGC Genetics in Portugal. GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 7 % Genes 17 %
Familial isolated Hyperparathyroidism. By Exeter Molecular Genetics Laboratory in United Kingdom. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1. By Exeter Molecular Genetics Laboratory in United Kingdom. MEN1 Specificity 100 % Genes 17 %
Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...) View the complete list with 11 more genes Panel GTR000509692 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 17 %
Multiple Endocrine Neoplasia Type 1 via MEN1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MEN1 Specificity 100 % Genes 17 %
Endocrine tumours. By Institute of Human Genetics Cologne University in Germany. CDKN1B, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 17 %
Multiple Endocrine Neoplasia Type 1. By MGZ Medical Genetics Center in Germany. MEN1 Specificity 100 % Genes 17 %
Hereditary Cancer Syndromes - panels. By MGZ Medical Genetics Center in Germany. RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...) View the complete list with 80 more genes Panel GTR000552439 complete gene list RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1, POLD1, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 34 %
Pheochromozytoma-Paraganglioma syndrome. By MGZ Medical Genetics Center in Germany. NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 17 %
Gastrointestinal Stromal Tumor. By MGZ Medical Genetics Center in Germany. KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2 Specificity 10 % Genes 17 %
Thyroid Cancer. By MGZ Medical Genetics Center in Germany. DICER1, CHEK2, FLCN, SDHD, STK11, ATM, MEN1, SDHB, SDHC, RET, PTEN, MUTYH, APC Specificity 8 % Genes 17 %
Multiple Endocrine Neoplasia I. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. MEN1 Specificity 100 % Genes 17 %
MEN1. By GeneTech ATS GeneTech Private Limited in India. MEN1 Specificity 100 % Genes 17 %
MEN1. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MEN1 Specificity 100 % Genes 17 %
Multiple endocrine neoplasia type 1. By Centogene AG - the Rare Disease Company in Germany. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1. By Medical Genetics Laboratory Diagenom GmbH in Germany. MEN1 Specificity 100 % Genes 17 %
Multiple endocrine neoplasia. By bio.logis Center for Human Genetics Diagnosticum in Germany. MEN1, RET Specificity 50 % Genes 17 %
Pheochromocytoma and Paraganglioma Panel. By CeGaT GmbH in Germany. CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 8 % Genes 17 %
Breast and Ovarian Cancer - extended Diagnostic Panel. By CeGaT GmbH in Germany. UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD , (...) View the complete list with 21 more genes Panel GTR000522395 complete gene list UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, FANCC, MEN1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 3 % Genes 17 %
Single gene testing MEN1. By CeGaT GmbH in Germany. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. MEN1, RET Specificity 50 % Genes 17 %
Multiple Endocrine Neoplasia type 1. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. MEN1 Specificity 100 % Genes 17 %
multiple endocrine neoplasia type I, MEN1. By GGA - Galil Genetic Analysis in Israel. MEN1 Specificity 100 % Genes 17 %
Breast and Ovarian Cancer. By Asper Biogene Asper Biogene LLC in Estonia. CHD1, RAD51, XRCC2, FANCD2, FANCE, FANCF, FANCG, FANCA, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, PALB2, NBN, MRE11, ATM, KRAS, FANCC , (...) View the complete list with 9 more genes Panel GTR000326160 complete gene list CHD1, RAD51, XRCC2, FANCD2, FANCE, FANCF, FANCG, FANCA, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, PALB2, NBN, MRE11, ATM, KRAS, FANCC, MEN1, CASP8, TP53, MUTYH, MLH1, MSH6, MSH2, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Cancer Predisposition. By Asper Biogene Asper Biogene LLC in Estonia. DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...) View the complete list with 69 more genes Panel GTR000520069 complete gene list DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 34 %
Thyroid Cancer. By Asper Biogene Asper Biogene LLC in Estonia. DICER1, CDC73, PRKAR1A, SDHD, MEN1, SDHB, RET, TP53, PTEN, APC Specificity 10 % Genes 17 %
Multiple endocrine neoplasia Type 1, MEN1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. MEN1 Specificity 100 % Genes 17 %
Multiple endocrine Neoplasia 1. By Praxis fuer Humangenetik Wien in Austria. MEN1 Specificity 100 % Genes 17 %
Inherited Cancer Screen. By Counsyl in United States. POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA , (...) View the complete list with 16 more genes Panel GTR000552078 complete gene list POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA, MEN1, SDHB, SDHC, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
qCancer Risk Expanded. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...) View the complete list with 25 more genes Panel GTR000552850 complete gene list POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TSC1, TSC2, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
Multiple endocrine Neoplasia 1. By MedGene in Slovakia. MEN1 Specificity 100 % Genes 17 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI). By Invitae in United States. DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11 , (...) View the complete list with 22 more genes Panel GTR000528518 complete gene list DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TSC1, TSC2, SDHA, MEN1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
Invitae Multi-Cancer Panel. By Invitae in United States. DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...) View the complete list with 60 more genes Panel GTR000528909 complete gene list DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
Invitae Hyperparathyroidism Panel. By Invitae in United States. CDKN1B, CASR, CDC73, MEN1, RET Specificity 20 % Genes 17 %
Invitae Nervous System/Brain Cancer Panel. By Invitae in United States. DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000528930 complete gene list DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 4 % Genes 17 %
Invitae Pediatric Nervous System/Brain Tumors Panel. By Invitae in United States. DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000551798 complete gene list DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 5 % Genes 17 %
Invitae Pediatric Solid Tumors Panel. By Invitae in United States. DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...) View the complete list with 28 more genes Panel GTR000551805 complete gene list DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 3 % Genes 17 %
Invitae Pancreatic Cancer Panel. By Invitae in United States. NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 17 %
Invitae Multiple Endocrine Neoplasia Type 1 Test. By Invitae in United States. MEN1 Specificity 100 % Genes 17 %
Multiple endocrine Neoplasia type 1 (MEN1): MEN1 gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MEN1 Specificity 100 % Genes 17 %
Multiple endocrine Neoplasia type 1 (MEN1): MEN1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MEN1 Specificity 100 % Genes 17 %
ONCOLOGY, PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...) View the complete list with 60 more genes Panel GTR000531499 complete gene list POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, KIT, PRSS1, SMARCB1, SMARCA4, TERT, DKC1, FANCB, ERCC3, ERCC2, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, ATM, NSD1, TSC1, TSC2, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 34 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 17 %
Multiple Endocrine Neoplasia Type 1: MEN1 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MEN1 Specificity 100 % Genes 17 %
Hereditary Cancer Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...) View the complete list with 40 more genes Panel GTR000512650 complete gene list BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 34 %
Brain, CNS, and PNS Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 7 % Genes 17 %
Endocrine Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MXD1, AIP, CDKN1B, CDC73, PRKAR1A, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 14 % Genes 34 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL Specificity 7 % Genes 17 %
Endocrine Cancer: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 8 % Genes 17 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...) View the complete list with 35 more genes Panel GTR000560746 complete gene list BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
Hereditary Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...) View the complete list with 92 more genes Panel GTR000509427 complete gene list RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT2, AXIN2, PDGFRA, EGFR, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, TERT, MITF, ATR, FANCB, CTNNB1, ERCC3, ERCC2, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, PRKAR1A, SBDS, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, EXT1, TP53, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 34 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 17 %
Multiple Endocrine Neoplasia Type 1 NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MEN1, RET Specificity 50 % Genes 17 %
MEN1. By Fulgent Genetics Fulgent Genetics in United States. MEN1 Specificity 100 % Genes 17 %
Focus Cancer Panel - 40 Genes. By Fulgent Genetics Fulgent Genetics in United States. RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 20 more genes Panel GTR000529345 complete gene list RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, FANCC, MEN1, RET, TP53, PTEN, MUTYH, MLH1, POLD1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
Nervous System / Brain Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000531708 complete gene list DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 4 % Genes 17 %
Pancreatic Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...) View the complete list with 2 more genes Panel GTR000531710 complete gene list NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 17 %
Comprehensive Cancer Panel. By Fulgent Genetics Fulgent Genetics in United States. RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...) View the complete list with 104 more genes Panel GTR000531711 complete gene list RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT1, EXT2, AXIN2, POLE, PDGFRA, GREM1, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, SMARCA4, SMARCE1, TERT, MITF, EZH2, ATR, FANCB, ERCC3, ERCC2, CASR, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 34 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...) View the complete list with 14 more genes Panel GTR000552183 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB, SDHC, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
MEN1 Sequencing and Deletion/Duplication. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. MEN1 Specificity 100 % Genes 17 %
Hyperparathyroidism Panel. By Blueprint Genetics in Finland. CDKN1A, CDKN2C, CDKN2B, GCM2, PTH, AP2S1, GNA11, CDKN1B, CASR, CDC73, AIRE, MEN1, RET Specificity 8 % Genes 17 %
Hereditary Pediatric Cancer Panel. By Blueprint Genetics in Finland. REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...) View the complete list with 51 more genes Panel GTR000552804 complete gene list REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, SDHA, MEN1, TMEM127, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 2 % Genes 17 %
Comprehensive Hereditary Cancer Panel. By Blueprint Genetics in Finland. REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...) View the complete list with 126 more genes Panel GTR000552807 complete gene list REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L, POT1, AIP, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, GREM1, POLD1, SRP72, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KITLG, KIT, SMARCB1, SMARCA4, TERT, TERC, MITF, EZH2, RRAS, RASA2, NSUN2, SPRED1, DKC1, FANCB, LZTR1, ERCC3, ERCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, POLH, XPC, SOS2, TINF2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 34 %
Hereditary Pancreatic Cancer Panel. By Blueprint Genetics in Finland. BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...) View the complete list with 2 more genes Panel GTR000552822 complete gene list BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 17 %
Hereditary Gastrointestinal Cancer Panel. By Blueprint Genetics in Finland. NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1 , (...) View the complete list with 19 more genes Panel GTR000552736 complete gene list NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
Hereditary Endocrine Cancer Panel. By Blueprint Genetics in Finland. DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN , (...) View the complete list with 2 more genes Panel GTR000552750 complete gene list DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN, APC, VHL Specificity 10 % Genes 34 %
Hereditary Cancer High Risk Panel. By Blueprint Genetics in Finland. POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1 , (...) View the complete list with 8 more genes Panel GTR000561520 complete gene list POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Multiple endocrine neoplasia type 1. By Bioarray in Spain. MEN1 Specificity 100 % Genes 17 %
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 Panel GTR000530118 complete gene list 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 17 %
iGene Cancer Panel. By ApolloGen, Inc. in United States. NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 5 more genes Panel GTR000525919 complete gene list NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Multiple Endocrine Neoplasia,Type1(MEN1) Genetic Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. MEN1 Specificity 100 % Genes 17 %
Genetic Test of single known genetic variant. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. GNAS, PKD1, PKD2, TSC1, TSC2, MEN1, RET, TP53, BRCA2, BRCA1 Specificity 10 % Genes 17 %
FoundationOne® Heme. By Foundation Medicine, Inc. in United States. TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...) View the complete list with 385 more genes Panel GTR000527977 complete gene list TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2, ID3, KDM2B, JAK1, JUN, KDM4C, KLHL6, IKBKE, INPP4B, IKZF3, HSP90AA1, JARID2, LRP1B, LEF1, APH1A, BCL2L2, AURKB, ARFRP1, ARHGAP26, MDM4, MAP2K4, MAGED1, BTLA, MCL1, EMSY, BCL7A, MKI67, BTG2, CHEK1, NUP98, PCLO, PCBP1, PASK, PDCD1, PBRM1, DAXX, PDCD11, PDCD1LG2, EPHB1, EPHA3, EBF1, DOT1L, EPHA5, ECT2L, EPHA7, FGF6, FBXO11, FAF1, ERG, FHIT, TENT5C, ETS1, FRS2, FOXO3, GADD45B, CD274, MYO18A, CCT6B, CDK8, CCND3, CD22, NOD1, CD58, GSK3B, IRF1, IRF4, IRS2, PIK3CG, CRKL, MAPK1, MAP3K14, AXIN1, CRLF2, INHBA, XBP1, BCL10, IRF8, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, RICTOR, KDM5A, EED, ERBB4, PPP2R1A, MAP3K7, ELP2, CIC, AXL, CD70, CAD, NUP93, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, CDKN2B, PTPRO, TCF3, RARA, CBFB, ERBB2, MSH3, MAFB, DDR2, MDM2, IGF1R, MALT1, CDK12, HDAC4, BCL2, CCND1, MIB1, KAT6A, DDX3X, CD79B, CD79A, B2M, PLCG2, NCSTN, TNFAIP3, KDR, FLT1, WISP3, NSD2, RAD51, PDGFRB, CTCF, FBXO31, CDK6, SRC, ICK, MAP3K1, CCND2, NTRK2, CARD11, POT1, TRAF3, NOTCH2, TYK2, PRKDC, PIK3R1, CIITA, NFKBIA, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, IL7R, BCORL1, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, CD36, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, TGFBR2, NOTCH1, ATR, MTOR, ZMYM3, TAF1, GATA1, CTNNB1, FOXP1, MED12, S1PR2, GATA3, FGF3, SOX10, HGF, ACTB, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, RELN, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, LRRK2, NF1, NTRK1, DNM2, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, TMSB4X, GID4, SERP2, ZNF703, FLYWCH1, PAG1, MEF2B, GNA12, EXOSC6, DUSP9, AURKA, TOP1, P2RY8, MAP3K6, FGF4, SMARCA1, SUZ12, DUSP2, NCOR2, DTX1, ASMTL, BRSK1, FGF19, RHOA, BCL11B, FOXO1, ADGRA2, PTPN6, PTPN2, RASGEF1A, PRSS8, SGK1, STAT6, SOCS3, TCL1A, SOCS2, SPEN, SOCS1, STAT5A, SPOP, STAT4, YY1AP1, ZNF24, WDR90, TLL2, XPO1, ZNF217, TMEM30A, TRAF2, TNFRSF17, TNFRSF14, U2AF2, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MEF2C, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, BCOR, AMER1, TUSC3, SDHB, IDH2, RAF1, SDHC, CPS1, TNFRSF11A, RET, RB1, WT1, HNF1A, FOXL2, PC, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 17 %
Hereditary Thyroid and Other Neuroendocrine Gland Cancer-Mutation. By GeneKor MSA in Greece. MEN1 Specificity 100 % Genes 17 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel. By Veritas Genetics Veritas Genetics in United States. ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000531756 complete gene list ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Hereditary Cancer Comprehensive Panel. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...) View the complete list with 53 more genes Panel GTR000551448 complete gene list TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA, BAP1, XRCC2, PRSS1, MYH8, MYH3, MYH6, TERT, TERC, CTNNA1, MYH11, ATR, MYH9, MYH14, MYH2, MYH7, NTRK1, RAD51D, BARD1, RAD51C, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, SDHB, SDHC, RET, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...) View the complete list with 295 more genes Panel GTR000558437 complete gene list IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 17 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 17 %
Otogenetics Hereditary Cancers. By Otogenetics in United States. PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...) View the complete list with 19 more genes Panel GTR000552245 complete gene list PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, HRAS, FANCC, MEN1, RET, ELAC2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 17 %
MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1). By Laboratorio de Genetica Clinica SL in Spain. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1 , Sequencing MEN1 Gene. By Reference Laboratory Genetics in Spain. MEN1 Specificity 100 % Genes 17 %
Multiple Endocrine Neoplasia Type 1, Deletions-Duplications (MLPA) MEN1 Gene. By Reference Laboratory Genetics in Spain. MEN1 Specificity 100 % Genes 17 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes. By Reference Laboratory Genetics in Spain. CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...) View the complete list with 70 more genes Panel GTR000559668 complete gene list CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 34 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 17 %
Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes. By Reference Laboratory Genetics in Spain. MLH3, TGFBR2, SMAD4, CDKN2A, STK11, PALB2, KRAS, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1 Specificity 7 % Genes 17 %
Multiple endocrine neoplasia, type 1. By Labor Dr. Wisplinghoff in Germany. MEN1 Specificity 100 % Genes 17 %
Phosphorus Brain and Nervous System Cancer Panel. By Phosphorus Diagnostics LLC in United States. DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1 , (...) View the complete list with 15 more genes Panel GTR000558452 complete gene list DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 6 % Genes 34 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel. By Phosphorus Diagnostics LLC in United States. CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 5 more genes Panel GTR000558454 complete gene list CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 17 %
Phosphorus Pancreatic Cancer Panel. By Phosphorus Diagnostics LLC in United States. NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 17 %
Phosphorus Pan-Cancer Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...) View the complete list with 63 more genes Panel GTR000558459 complete gene list DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 34 %
Phosphorus Pediatric Cancers Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...) View the complete list with 33 more genes Panel GTR000558461 complete gene list DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 2 % Genes 17 %
Tempus xT assay. By Tempus Labs, Inc. in United States. HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 1 % Genes 17 %
Brain, CNS, and PNS Cancer: Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 7 % Genes 17 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL Specificity 7 % Genes 17 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...) View the complete list with 123 more genes Panel GTR000560391 complete gene list RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC, ANTXR1, RHBDF2, KDR, CYLD, GALNT12, BUB1B, XPA, ERCC5, DICER1, WRN, CD96, RSPO1, ESCO2, KLHDC8B, AIP, LIG4, EXT1, EXT2, AKT1, AXIN2, POLE, PDGFRA, POLD1, PIK3CA, ERCC4, CDKN1B, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, GLMN, SMARCB1, SMARCA4, ERCC6, TERT, LYST, MITF, GLI3, TGFBR1, ANTXR2, ATR, DKC1, FANCB, ERCC3, ERCC2, CYP21A2, NF1, NTRK1, WAS, RTEL1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, TINF2, BLM, FANCC, SDHA, MEN1, TMEM127, RNASEL, NDUFA13, SDHB, FAH, FH, SDHC, KIF1B, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, HFE, BRCA2, BRCA1 Specificity 2 % Genes 34 %
Endocrine Cancer: gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. AIP, CDKN1B, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 14 % Genes 34 %
Endocrine Cancer: gene deletion/duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 8 % Genes 17 %
Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MEN1 Specificity 100 % Genes 17 %
Hereditary Cancer Syndrome: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...) View the complete list with 40 more genes Panel GTR000560410 complete gene list BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 34 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...) View the complete list with 35 more genes Panel GTR000560411 complete gene list BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 17 %
Multiple Endocrine Neoplasia Type 1: MEN1 Gene Sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MEN1 Specificity 100 % Genes 17 %
CDH23 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CDH23 Specificity 100 % Genes 17 %
CDH23 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. CDH23 Specificity 100 % Genes 17 %
CDH23 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CDH23 Specificity 100 % Genes 17 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, OTC, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, MECP2, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, OCRL, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A, FMR1 Specificity 1 % Genes 17 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CTNS, NEB, HBA2, MTTP, FKTN, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, LAMB3, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A Specificity 1 % Genes 17 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, CEMIP, RIPOR2, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, ACTB, SALL1, TBX1, KCNJ10, NR2F1, TBC1D24, COL4A5, SLC12A1, BSND, COL4A4, FGFR1, PMP22, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, SLC22A4, ALMS1, MANBA, AIFM1, TIMM8A, MYO7A, CISD2, KARS, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 17 %
NGS Hearing Loss Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...) View the complete list with 71 more genes Panel GTR000548231 complete gene list MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, MT-TS1, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, MARVELD2, PJVK, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, HGF, CLPP, EDN3, GIPC3, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, MAN2B1, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, EYA1, USH1C, USH1G Specificity 2 % Genes 17 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, TCOF1, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, BDP1, ADCY1, ACTG1, TBX1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, FGFR1, MT-TL1, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, SLC22A4, ALMS1, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, TWNK, USH1C, USH1G Specificity 1 % Genes 17 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...) View the complete list with 102 more genes Panel GTR000528548 complete gene list MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DNMT1, DIAPH1, NLRP3, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, COL9A1, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, PITX2, FOXC1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 17 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, NODAL, WDR35, OFD1, PKD2, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, VHL Specificity 2 % Genes 17 %
CDH23 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CDH23 Specificity 100 % Genes 17 %
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TMIE, FOXI1, TMC1, SIX1, TMPRSS3, SIX5, OTOF, MYO6, KCNJ10, POU3F4, GJB6, GJB2, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1 , (...) View the complete list with 3 more genes Panel GTR000500213 complete gene list TMIE, FOXI1, TMC1, SIX1, TMPRSS3, SIX5, OTOF, MYO6, KCNJ10, POU3F4, GJB6, GJB2, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, EYA1, USH1C, USH1G Specificity 5 % Genes 17 %
Usher Syndrome Panel by next-generation sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. MYO7A, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, USH1C, USH1G Specificity 12 % Genes 17 %
OtoSeq Hearing Loss Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TMIE, FOXI1, TMC1, SIX1, TMPRSS3, SIX5, OTOF, MYO6, KCNJ10, POU3F4, GJB6, GJB2, MYO7A, CDH23, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, EYA1 , (...) View the complete list with 2 more genes Panel GTR000519426 complete gene list TMIE, FOXI1, TMC1, SIX1, TMPRSS3, SIX5, OTOF, MYO6, KCNJ10, POU3F4, GJB6, GJB2, MYO7A, CDH23, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, EYA1, USH1C, USH1G Specificity 5 % Genes 17 %
Usher Syndrome Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. MYO7A, CDH23, PCDH15, USH2A, CLRN1, ADGRV1, USH1C, USH1G Specificity 13 % Genes 17 %
CDH23 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CDH23 Specificity 100 % Genes 17 %
OtoGenome Test for Hearing Loss (110 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9 , (...) View the complete list with 90 more genes Panel GTR000509148 complete gene list CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, ESRRB, GSDME, CDC14A, CD164, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, STRC, SOX10, SERPINB6, SNAI2, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, HARS2, ALMS1, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, EYA1, BCS1L, USH1C, USH1G Specificity 1 % Genes 17 %
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. MASP1, MYO1A, GPSM2, CEACAM16, TPRN, TRIOBP, TMIE, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, GJB3, ESRRB, GSDME, TMC1, SMPX, RDX, TMPRSS3 , (...) View the complete list with 36 more genes Panel GTR000515701 complete gene list MASP1, MYO1A, GPSM2, CEACAM16, TPRN, TRIOBP, TMIE, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, GJB3, ESRRB, GSDME, TMC1, SMPX, RDX, TMPRSS3, TECTA, STRC, ESPN, KCNQ4, DNMT1, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, CCDC50, CLDN14, COCH, ACTG1, GJB6, GJB2, HARS2, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, USH1C, USH1G Specificity 2 % Genes 17 %
CDH23. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CDH23 Specificity 100 % Genes 17 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT , (...) View the complete list with 86 more genes Panel GTR000553458 complete gene list SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, SLC4A11, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, CABP2, CIB2, ATP6V1B1, ATP6V1B2, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, ALMS1, TIMM8A, MYO7A, CISD2, SUCLA2, MSRB3, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, USH1C, USH1G, ABHD12 Specificity 1 % Genes 17 %
Usher syndrome type 1D/F (sequence analysis of CDH23 gene). By CGC Genetics in Portugal. CDH23 Specificity 100 % Genes 17 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics in Portugal. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000523375 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 17 %
Non syndromic deafness AR and XL (NGS panel for 56 genes). By CGC Genetics in Portugal. TMC2, GPSM2, OTOGL, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, SLC26A5, OTOA, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, TMC1, SMPX, SLITRK6, RDX , (...) View the complete list with 36 more genes Panel GTR000523517 complete gene list TMC2, GPSM2, OTOGL, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, SLC26A5, OTOA, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, TMC1, SMPX, SLITRK6, RDX, PTPRQ, PRPS1, TMPRSS3, TECTA, STRC, SERPINB6, ESPN, OTOG, MARVELD2, PJVK, OTOF, ILDR1, COL11A2, COL4A6, MYO15A, MYO6, MYO3A, HGF, GIPC3, CLIC5, CLDN14, CABP2, CIB2, KCNJ10, SLC12A1, POU3F4, GJB6, GJB2, MYO7A, KARS, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH1C Specificity 2 % Genes 17 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics in Portugal. TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA , (...) View the complete list with 107 more genes Panel GTR000523804 complete gene list TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, POLR1C, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, SLC12A1, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, EYA4, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 17 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes). By CGC Genetics in Portugal. TMC2, MYO1A, GPSM2, OTOGL, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5 , (...) View the complete list with 59 more genes Panel GTR000523911 complete gene list TMC2, MYO1A, GPSM2, OTOGL, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, GSDME, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, PRPS1, TMPRSS3, TECTA, STRC, SERPINB6, SLC17A8, ESPN, KCNQ4, DIAPH1, OTOG, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL4A6, GRHL2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CLIC5, CCDC50, CLDN14, COCH, CABP2, CIB2, ACTG1, KCNJ10, SLC12A1, POU3F4, GJB6, GJB2, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, WFS1, EYA4, USH1C Specificity 2 % Genes 17 %
Usher syndrome (NGS panel for 12 genes). By CGC Genetics in Portugal. CIB2, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G Specificity 9 % Genes 17 %
Usher Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CIB2, MYO7A, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G Specificity 10 % Genes 17 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN, PEX11B, CEP78, KIAA1549, RCBTB1, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, COL18A1, TUBGCP6, TUBGCP4, PLK4, LRP2, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, IFT172, TCTN3, SLC25A46, VSX2, B9D2, ARL13B, IFT80, CPLANE1, CEP41, IFT43, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, GNPTG, ABCC6, PEX6, PRPS1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, HCN1, LARGE1, ISPD, PNPLA6, AHI1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, MVK, WDR35, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, CTNNB1, TMEM231, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, FBLN5, MMACHC, SPATA7, NEUROD1, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 17 %
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via CDH23 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CDH23 Specificity 100 % Genes 17 %
Usher 1 Panel. By FirmaLab in United States. MYO7A, CDH23, PCDH15, USH1C Specificity 25 % Genes 17 %
DFNB12 Nonsyndromic Hearing Loss and Deafness. By Bioscientia GmbH Center for Human Genetics in Germany. ATP2B2, CDH23 Specificity 50 % Genes 17 %
Usher Syndrome Type 1D. By Bioscientia GmbH Center for Human Genetics in Germany. CDH23 Specificity 100 % Genes 17 %
Usher syndrome type 1D/F. By Centogene AG - the Rare Disease Company in Germany. CDH23 Specificity 100 % Genes 17 %
Deafness, non-syndromic sensorineural AR panel. By Centogene AG - the Rare Disease Company in Germany. GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, SLC26A5, OTOA, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, SMPX, RDX, PTPRQ, PRPS1, TMPRSS3, TECTA, STRC , (...) View the complete list with 23 more genes Panel GTR000503261 complete gene list GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, SLC26A5, OTOA, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, SMPX, RDX, PTPRQ, PRPS1, TMPRSS3, TECTA, STRC, ESPN, MARVELD2, PJVK, OTOF, ILDR1, COL11A2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CLDN14, SLC12A1, POU3F4, GJB6, GJB2, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH1C Specificity 3 % Genes 17 %
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. TMC2, GPSM2, OTOGL, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, SLC26A5, OTOA, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, SMPX, SLITRK6, RDX, PTPRQ , (...) View the complete list with 33 more genes Panel GTR000522361 complete gene list TMC2, GPSM2, OTOGL, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, SLC26A5, OTOA, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, SMPX, SLITRK6, RDX, PTPRQ, PRPS1, TMPRSS3, TECTA, STRC, SERPINB6, ESPN, OTOG, MARVELD2, PJVK, OTOF, ILDR1, COL11A2, COL4A6, MYO15A, MYO6, MYO3A, HGF, GIPC3, CLIC5, CLDN14, CABP2, CIB2, POU3F4, GJB6, GJB2, MYO7A, KARS, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH1C Specificity 2 % Genes 17 %
Syndromic Hearing Loss Panel. By CeGaT GmbH in Germany. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000522364 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 17 %
Usher Syndrome Panel. By CeGaT GmbH in Germany. PEX6, CIB2, PEX1, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 7 % Genes 17 %
Usher Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. LOXHD1, LHFPL5, TNC, DSPP, COL4A6, GIPC3, CIB2, MYO7A, KARS, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 5 % Genes 17 %
Sensorineural Hearing Loss. By Asper Biogene Asper Biogene LLC in Estonia. MYO1A, GPSM2, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GJB3, FOXI1 , (...) View the complete list with 57 more genes Panel GTR000512701 complete gene list MYO1A, GPSM2, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, GSDME, ATP2B2, TMC1, SMPX, SIX1, RDX, PTPRQ, PRPS1, TMPRSS3, TECTA, MT-TS1, STRC, SERPINB6, SLC17A8, ESPN, KCNQ4, DIAPH1, MARVELD2, PJVK, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CCDC50, CLDN14, COCH, CIB2, ATP6V1B1, ACTG1, KCNJ10, BSND, POU3F4, GJB6, GJB2, MYO7A, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, TRMU, EYA4, PDZD7, USH1C, USH1G Specificity 2 % Genes 17 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, B9D2, MT-TV, MT-TH, MT-ND4L, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, ABCC6, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, AHI1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, RP2, PRPF8, PRPF31, PEX6, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 17 %
USHER syndrome panel. By Molecular Vision Laboratory in United States. CEP250, CIB2, MYO7A, PCARE, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, USH1C, USH1G, ABHD12 Specificity 8 % Genes 17 %
CDH23 single gene sequencing. By Molecular Vision Laboratory in United States. CDH23 Specificity 100 % Genes 17 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, MT-TV, MT-TH, MT-ND4L, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PEX6, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, ZNF513 Specificity 1 % Genes 17 %
Usher syndrome. By VECMD VECMD in Mexico. MYO7A, CDH23, USH2A, USH1C, USH1G Specificity 20 % Genes 17 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA, F8, F9, JAK3, THRB, F11, PGK1, DNAH5, CHST6, CASQ2, TRDN, THOC2, IL1RAPL1, SLC16A2, BRWD3, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, AFF2, HUWE1, PHF8, MVK, PEX10, NLGN4X, AP1S2, TPRN, TRIOBP, TMIE, PEX6, GJB3, TMC1, PRPS1, TMPRSS3, SLC4A11, STRC, POLR1C, OTOF, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, GRIA3, FGD1, IQSEC2, ATRX, MFSD8, PQBP1, DCX, POMT1, POMT2, TNNT1, SPART, L1CAM, BSND, COL4A4, CYP21A2, GNRHR, KCNJ11, DYSF, FKRP, CLCN1, AHI1, SPG11, ZFYVE26, GDAP1, MTMR2, SH3TC2, NDRG1, TMEM216, PKHD1, LAMC2, CLN5, CAPN3, TTPA, PEX1, MPL, MCOLN1, GRHPR, TH, UGT1A1, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, CTNS, NEB, G6PD, FKTN, LAMB3, HBA1, CLN8, CLN6, NBN, ATM, SMN1, RMRP, POU3F4, PLP1, PLOD1, NPC2, NPC1, LIPA, LDLR, IDUA, IDS, GLA, GJB2, DMD, DHCR7, GBA, FANCC, CFTR, ARX, ASPA, ARSA, AR, AIRE, IL2RG, GNMT, ARSB, AHCY, AGA, ADA, ABCD4, NR2E3, SLC6A8, CYP17A1, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, ALDH4A1, IVD, GALC, SUCLG1, MLYCD, MAN2B1, DBT, MUT, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GNS, GALNS, CPT1A, SURF1, AGXT, PAH, PTS, ACOX1, HEXB, HEXA, LMBRD1, MMADHC, ABCD1, ACSL4, OTC, RP2, AGPS, MYO7A, ETHE1, EYS, AMT, GLDC, PCCB, SPG7, CERKL, ACADSB, CTSD, TSFM, TUFM, HAX1, P3H1, SUCLA2, RDH12, CNGA1, G6PC, TAT, HMGCL, FAH, RS1, CNGB1, PDE6A, DHDDS, PDHB, ACSF3, IDH3B, CDH23, WHRN, SLC26A4, MECP2, CRB1, GUCY2D, RPE65, RPGR, TULP1, FH, HADHA, PANK2, SLC25A13, DLD, PCDH15, USH2A, CLRN1, CEP290, NPHP1, TMEM67, CNGB3, NDP, ABCA4, OCRL, GLB1, GNPTAB, CPT2, CPS1, MTRR, GPR143, TYR, SLC45A2, TYRP1, RAX, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, HLCS, ARG1, USH1C, PC, USH1G, ALDOB, AIPL1, ACAT1, ACADVL, AGL, ACADS, ACADM, CD40LG, LDLRAP1, PCBD1, SLC46A1, EVC2, ABCB11, MCCC2, MCCC1, MTHFR, FMR1, F5, F2 Specificity 1 % Genes 17 %
DEAFNESS A.D. and A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MYO1A, GPSM2, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GJB3, ESRRB, GSDME, TMC1 , (...) View the complete list with 37 more genes Panel GTR000531429 complete gene list MYO1A, GPSM2, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GJB3, ESRRB, GSDME, TMC1, RDX, PTPRQ, TMPRSS3, TECTA, SERPINB6, SLC17A8, KCNQ4, DIAPH1, MARVELD2, PJVK, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CCDC50, CLDN14, COCH, CIB2, ACTG1, BSND, GJB6, GJB2, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, WFS1, EYA4, USH1C Specificity 2 % Genes 17 %
DEAFNESS A.R. (39 genes). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, SLC26A5, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, RDX, PTPRQ, TMPRSS3, TECTA, SERPINB6, MARVELD2, PJVK, OTOF , (...) View the complete list with 19 more genes Panel GTR000531475 complete gene list GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, SLC26A5, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, RDX, PTPRQ, TMPRSS3, TECTA, SERPINB6, MARVELD2, PJVK, OTOF, ILDR1, COL11A2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CLDN14, CIB2, BSND, GJB6, GJB2, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH1C Specificity 3 % Genes 17 %
USHER SYNDROME and NON-SYNDROMIC DEAFNESS. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MT-RNR1, TMIE, TMC1, TMPRSS3, MT-TS1, OTOF, MYO6, GJB6, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, USH1C, USH1G Specificity 6 % Genes 17 %
Usher Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CIB2, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 8 % Genes 17 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, WDR35, TMEM231, OFD1, PKD2, SCNN1B, SCNN1G, SCNN1A, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, AIPL1, VHL Specificity 1 % Genes 17 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...) View the complete list with 111 more genes Panel GTR000512601 complete gene list MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SOX10, SERPINB6, SLC17A8, SIX5, P2RX2, KCNQ4, EDNRB, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, SALL1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ALMS1, ABHD5, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, OPA1, HSD17B4, EYA4, COL2A1, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 1 % Genes 17 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 76 more genes Panel GTR000558619 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, FOXH1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 2 % Genes 17 %
Hearing Loss: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...) View the complete list with 71 more genes Panel GTR000560677 complete gene list MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, SERPINB6, SLC17A8, KCNQ4, DNMT1, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CCDC50, CLDN14, COCH, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, HSD17B4, EYA4, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 2 % Genes 17 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, CFTR, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 2 % Genes 17 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 1 % Genes 17 %
Retinitis Pigmentosa NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...) View the complete list with 68 more genes Panel GTR000509465 complete gene list RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, PHYH, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, IQCB1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, MKKS, NPHP1, NPHP3, ARL6, CACNA1F, ABCA4, WFS1, RP1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 2 % Genes 17 %
Hearing Loss NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2 , (...) View the complete list with 83 more genes Panel GTR000510709 complete gene list MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, ATP2B2, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, SLC4A11, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, EDN3, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ACTG1, ACTB, KCNJ10, BSND, PMP22, POU3F4, GJB6, GJB2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, JAG1, WFS1, TRMU, EYA4, PDZD7, EYA1, BCS1L, USH1C, USH1G Specificity 1 % Genes 17 %
Usher Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYO7A, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 10 % Genes 17 %
CDH23. By Fulgent Genetics Fulgent Genetics in United States. CDH23 Specificity 100 % Genes 17 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, SALL1, KCNJ10, SPATA5, TBC1D24, SLC33A1, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, MET, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, ALMS1, SUCLG1, MAN2B1, MANBA, AIFM1, TIMM8A, MYO7A, SUCLA2, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, TRMU, HSD17B4, EYA4, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, USH1G, ABHD12 Specificity 1 % Genes 17 %
Non-Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. WBP2, GPSM2, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5 , (...) View the complete list with 75 more genes Panel GTR000552702 complete gene list WBP2, GPSM2, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GJB3, ESRRB, GSDME, CDC14A, CD164, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PRPS1, RIPOR2, TMPRSS3, TECTA, STRC, SERPINB6, SLC17A8, P2RX2, ESPN, KCNQ4, DCDC2, DIAPH1, OTOG, PNPT1, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, GIPC3, CLIC5, CCDC50, CLDN14, COCH, CABP2, CIB2, BDP1, ADCY1, ACTG1, TBC1D24, BSND, MET, POU3F4, GJB6, GJB2, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, WFS1, EYA4, USH1C Specificity 2 % Genes 17 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1, COL18A1, LRP2, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP104, IFT172, TCTN3, SLC25A46, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CTC1, KIF11, SDCCAG8, WDPCP, BBIP1, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, SPP2, DHX38, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, DTHD1, GPR179, LRIT3, GNB3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, GNPTG, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CTNNB1, TMEM231, PEX6, PRPS1, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, PNPLA6, AHI1, TMEM216, TTPA, PEX1, PEX7, PEX2, MTTP, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, ALMS1, CLN3, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, KIAA0586, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, MMACHC, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 17 %
Usher Syndrome Panel. By Blueprint Genetics in Finland. CEP78, CIB2, PEX1, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 7 % Genes 17 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, LARS2, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, DNMT1, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, CLPP, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, CDKN1C, CHD7, HARS2, ALMS1, MAN2B1, MANBA, TIMM8A, MYO7A, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 17 %
Usher syndrome, type 1D. By Bioarray in Spain. CDH23 Specificity 100 % Genes 17 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 1 % Genes 17 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics in United States. MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...) View the complete list with 109 more genes Panel GTR000552366 complete gene list MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, CEMIP, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, STRC, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ATP6V1B2, ACTG1, ACTB, KCNJ10, NR2F1, BSND, MT-TK, MT-TL1, GJB1, PMP22, POU3F4, GJB6, GJB2, FGFR3, SOX2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, JAG1, WFS1, EYA4, PDZD7, BCS1L, USH1C, USH1G Specificity 1 % Genes 17 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. TMC1, TMPRSS3, STRC, PJVK, OTOF, MYO15A, GJB6, GJB2, MYO7A, CDH23, SLC26A4, PCDH15, USH1C Specificity 8 % Genes 17 %
USHER SYNDROME TYPE 1. By Laboratorio de Genetica Clinica SL in Spain. MYO7A, CDH23, PCDH15, USH1C, USH1G Specificity 20 % Genes 17 %
Usher Syndrome Type 1D , Sequencing CDH23 Gene. By Reference Laboratory Genetics in Spain. CDH23 Specificity 100 % Genes 17 %
Usher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes. By Reference Laboratory Genetics in Spain. TMIE, TMC1, TMPRSS3, OTOF, MYO6, GJB6, MYO7A, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G Specificity 6 % Genes 17 %
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes. By Reference Laboratory Genetics in Spain. GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, SLC26A5, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, RDX, PTPRQ, TMPRSS3, TECTA, SERPINB6, MARVELD2, PJVK, OTOF , (...) View the complete list with 19 more genes Panel GTR000559730 complete gene list GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, SLC26A5, LHFPL5, LRTOMT, GJB3, ESRRB, TMC1, RDX, PTPRQ, TMPRSS3, TECTA, SERPINB6, MARVELD2, PJVK, OTOF, ILDR1, COL11A2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CLDN14, CIB2, BSND, GJB6, GJB2, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH1C Specificity 3 % Genes 17 %
planTrue Extended. By True Health Diagnostics in United States. HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS, NEB, HBA2, FKTN, HBA1, ATM, SMN1, RMRP, NPC1, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, TPP1, BBS1, MKS1, PMM2, SLC22A5, LRPPRC, GALT, GCDH, CBS, PAH, CYP27B1, HEXB, ALDH3A2, HEXA, ABCD1, MYO7A, G6PC, FAH, RS1, CDH23, SLC26A4, SMPD1, DLD, PCDH15, CLRN1, NPHP1, GLB1, GNPTAB, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, ALDOB, ACADVL, AGL, ACADM, FMR1 Specificity 2 % Genes 17 %
AIP Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. AIP Specificity 100 % Genes 17 %
AIP Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. AIP Specificity 100 % Genes 17 %
Familial isolated pituitary adenoma (sequence analysis of AIP gene). By CGC Genetics in Portugal. AIP Specificity 100 % Genes 17 %
Familial isolated pituitary adenoma (deletion/duplication analysis of AIP gene). By CGC Genetics in Portugal. AIP Specificity 100 % Genes 17 %
AIP-Related Familial Isolated Pituitary Adenomas. By Exeter Molecular Genetics Laboratory in United Kingdom. AIP Specificity 100 % Genes 17 %
Familial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AIP Specificity 100 % Genes 17 %
AIP. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. AIP Specificity 100 % Genes 17 %
Pituitary adenoma, growth hormone-secreting. By Centogene AG - the Rare Disease Company in Germany. AIP Specificity 100 % Genes 17 %
AIP-Related Familial Isolated Pituitary Adenomas. By GGA - Galil Genetic Analysis in Israel. AIP Specificity 100 % Genes 17 %
Pituitary adenomas, familial: AIP gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AIP Specificity 100 % Genes 17 %
Pituitary adenoma, familial: AIP gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AIP Specificity 100 % Genes 17 %
AIP. By Fulgent Genetics Fulgent Genetics in United States. AIP Specificity 100 % Genes 17 %
FAMILIAL PITUITARY ADENOMA. By Laboratorio de Genetica Clinica SL in Spain. AIP Specificity 100 % Genes 17 %
ACROMEGALY. By Laboratorio de Genetica Clinica SL in Spain. AIP Specificity 100 % Genes 17 %
ACTH- secreting Pituitary Adenoma , Sequencing AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 17 %
Prolactin-secreting Pituitary Adenoma , Sequencing AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 17 %
Growth Hormone-secreting Pituitary Adenoma , Sequencing AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 17 %
Pituitary Adenoma , Deletions-Duplications (MLPA) AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 17 %

Alternate names

Pituitary Adenoma, Prolactin-secreting Is also known as prolactinoma, familial;lactotroph adenoma; prl-secreting pituitary adenoma; prloma; pituitary lactotrophic adenoma; prolactin-secreting pituitary adenoma.

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