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Clinical Exome Sequencing is a patient-centric, phenotype-driven analyses designed to examine coding regions and splice junctions for thousands of genes, and report only the variants which are of plausible clinical relevance for your patient. Family history and clinical information is required for all Clinical Exome orders. Trio analysis is also available and focuses on the proband of a familial trio (proband and parents). Familial testing can be expanded to include siblings and/or other relatives. Incidental or secondary findings which do not match the provided clinical information are not routinely reported. Inclusion of incidental findings can be requested by submitting a signed Informed Consent for Genetic Testing form. Only pathogenic or likely pathogenic variants identified in the 59 genes recommended by ACMG will be reported as incidental findings. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions of nuclear-encoded genes enriched for clinical significance. Variants occurring in genes which do not match the provided clinical information are not routinely reported.

Order Options

Sequencing (included)
Del/Dup (included)

 

Genes

A2M, A2ML1, A4GALT, A4GNT, AAAS, AADAC, AADACL2, AAGAB, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA13, ABCA2, ABCA3, ABCA4, ABCB1, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCC1, ABCC11, ABCC2, ABCC3, ABCC4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD5, ABI3BP, ABL1, ABL2, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACCS, ACE, ACHE, ACKR1, ACLY, ACO2, ACOX1, ACP1, ACP2, ACP5, ACSF3, ACSL4, ACSL5, ACSL6, ACSM3, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN1, ACTN2, ACTN4, ACVR1, ACVR1B, ACVR1C, ACVR2A, ACVR2B, ACVRL1, ACY1, ADA, ADA2, ADAM10, ADAM12, ADAM17, ADAM19, ADAM22, ADAM23, ADAM33, ADAM7, ADAM9, ADAMTS1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADARB1, ADCY1, ADCY10, ADCY3, ADCY5, ADCY6, ADCY9, ADD1, ADD2, ADGRG1, ADGRV1, ADH4, ADH7, ADIPOQ, ADIPOR1, ADK, ADM, ADORA2A, ADRA2A, ADRA2B, ADRA2C, ADRB1, ADRB2, ADRB3, ADSL, ADTRP, AFF2, AFF3, AFG3L2, AFP, AGA, AGGF1, AGK, AGL, AGMO, AGO1, AGPAT2, AGPS, AGRN, AGRP, AGT, AGTPBP1, AGTR1, AGTR2, AGXT, AGXT2, AHCY, AHI1, AHR, AHSG, AHSP, AICDA, AIFM1, AIMP1, AIP, AIPL1, AIRE, AK1, AK2, AK3, AK7, AK8, AKAP10, AKAP2, AKAP9, AKR1C2, AKR1C3, AKR1C4, AKR1D1, AKR7A2, AKT1, AKT2, AKT3, ALAD, ALAS2, ALB, ALDH16A1, ALDH18A1, ALDH1A1, ALDH1A2, ALDH1A3, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG1L2, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ALK, ALMS1, ALOX12, ALOX12B, ALOX5, ALOX5AP, ALOXE3, ALPL, ALS2, ALS2CL, ALX1, ALX3, ALX4, AMACR, AMBN, AMELX, AMELY, AMER1, AMH, AMHR2, AMMECR1, AMN, AMPD1, AMPD3, AMT, ANG, ANGPTL3, ANGPTL4, ANGPTL5, ANGPTL6, ANGPTL7, ANK1, ANK2, ANK3, ANKH, ANKK1, ANKLE2, ANKRD1, ANKRD11, ANKRD26, ANKS1A, ANKS6, ANO10, ANO3, ANO5, ANO6, ANO7, ANOS1, ANTXR2, ANXA5, AP1S1, AP1S2, AP1S3, AP2S1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APAF1, APBA2, APBB2, APC, APCDD1, APEX1, APOA1, APOA2, APOA4, APOA5, APOB, APOBEC1, APOBEC3H, APOC2, APOC3, APOC4, APOD, APOE, APOH, APOL1, APOL3, APOPT1, APP, APRT, APTX, AQP2, AQP3, AQP4, AQP5, AR, ARFGEF2, ARG1, ARHGAP24, ARHGAP26, ARHGAP31, ARHGAP45, ARHGAP6, ARHGAP9, ARHGEF10, ARHGEF12, ARHGEF15, ARHGEF6, ARHGEF7, ARHGEF9, ARID1A, ARID1B, ARID4A, ARID4B, ARL13B, ARL2BP, ARL3, ARL6, ARMC4, ARMC5, ARMS2, ARSA, ARSB, ARSE, ART4, ARX, AS3MT, ASAH1, ASB10, ASCC1, ASCC3, ASCL1, ASIC3, ASIP, ASL, ASMT, ASNS, ASPA, ASPM, ASPN, ASPRV1, ASS1, ASXL1, ATAD3A, ATAD3B, ATAD3C, ATCAY, ATF3, ATF6, ATG16L1, ATG7, ATIC, ATL1, ATM, ATN1, ATOH7, ATP10A, ATP10D, ATP13A2, ATP13A4, ATP1A2, ATP1A3, ATP1B1, ATP2A1, ATP2A2, ATP2A3, ATP2B2, ATP2B3, ATP2B4, ATP2C1, ATP5F1A, ATP5F1B, ATP5F1E, ATP5MF-PTCD1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATR, ATRIP, ATRNL1, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN3L, ATXN7, AUH, AURKC, AUTS2, AVP, AVPR1A, AVPR2, AXIN1, AXIN2, AXL, AZIN2, B2M, B3GALNT1, B3GALNT2, B3GALT1, B3GALT2, B3GALT5, B3GALT6, B3GAT1, B3GAT2, B3GAT3, B3GLCT, B3GNT2, B3GNT3, B3GNT4, B3GNT5, B3GNT6, B3GNT7, B3GNT8, B4GALNT1, B4GALNT2, B4GALNT3, B4GALNT4, B4GALT1, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BAG3, BANK1, BAP1, BARD1, BARX2, BAX, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAM, BCAT1, BCAT2, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11A, BCL2, BCL2L1, BCL2L2-PABPN1, BCL6, BCL9, BCO1, BCOR, BCORL1, BCS1L, BDNF, BDP1, BEAN1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BHLHE41, BICC1, BICD2, BIN1, BLK, BLM, BLMH, BLNK, BLOC1S3, BLOC1S5, BLOC1S6, BLVRA, BMI1, BMP1, BMP15, BMP2, BMP4, BMP5, BMP7, BMPER, BMPR1A, BMPR1B, BMPR2, BNC2, BOC, BOLA3, BPGM, BRAF, BRAT1, BRCA1, BRCA2, BRD1, BRD2, BRIP1, BRSK2, BRWD1, BRWD3, BSCL2, BSG, BSND, BTBD9, BTD, BTK, BUB1, BUB1B, C10orf105, C10orf55, C12orf57, C12orf65, C15orf41, C15orf62, C16orf58, C19orf12, C1GALT1, C1GALT1C1, C1QA, C1QB, C1QC, C1QTNF5, C1R, C1S, C21orf91, C2orf42, C2orf71, C3, C3AR1, C5, C5AR2, C6, C7, C8A, C8B, C8orf37, C9, C9orf72, CA1, CA12, CA2, CA4, CA5A, CA8, CABIN1, CABP2, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4, CACNB2, CACNB4, CACNG2, CACNG3, CACNG4, CADPS2, CALCA, CALCR, CALCRL, CALHM1, CALM1, CALM2, CALM3, CALR, CALR3, CAMK4, CAMKMT, CAMSAP2, CAMTA1, CANT1, CAPN10, CAPN3, CARD11, CARD14, CARD9, CARS2, CARTPT, CASK, CASP10, CASP12, CASP14, CASP2, CASP8, CASQ2, CASR, CAT, CATSPER1, CATSPER2, CATSPER3, CATSPER4, CAV1, CAV3, CAVIN1, CAVIN4, CBFB, CBL, CBLB, CBR1, CBR3, CBS, CBSL, CBX2, CBX4, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC107, CCDC114, CCDC14, CCDC141, CCDC151, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC50, CCDC65, CCDC66, CCDC78, CCDC8, CCDC88C, CCKAR, CCKBR, CCL11, CCL2, CCM2, CCND1, CCND2, CCNO, CCR2, CCR3, CCR5, CCR7, CCT7, CD109, CD151, CD19, CD200, CD207, CD209, CD244, CD247, CD27, CD2AP, CD320, CD36, CD38, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD44, CD5, CD59, CD74, CD79A, CD79B, CD80, CD81, CD86, CD8A, CD96, CDA, CDAN1, CDC42, CDC42BPB, CDC45, CDC6, CDC73, CDH1, CDH13, CDH15, CDH23, CDH3, CDH5, CDHR1, CDK16, CDK4, CDK5R1, CDK5RAP2, CDK6, CDKAL1, CDKL3, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDON, CDT1, CDX2, CEACAM16, CEBPA, CEBPE, CECR2, CEL, CELSR1, CELSR2, CEMIP, CENPE, CENPF, CENPJ, CEP104, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CEP85L, CERKL, CERS3, CERS6, CES2, CETP, CFAP298, CFAP53, CFAP57, CFD, CFH, CFHR5, CFI, CFL2, CFP, CFTR, CHAT, CHCHD10, CHD1L, CHD2, CHD3, CHD6, CHD7, CHD8, CHDH, CHEK2, CHGA, CHI3L1, CHIC2, CHIT1, CHKB, CHKB-CPT1B, CHL1, CHM, CHMP1A, CHMP2B, CHMP4B, CHN1, CHPF, CHPF2, CHRD, CHRDL1, CHRM1, CHRM2, CHRM3, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA9, CHRNB1, CHRNB2, CHRNB4, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST5, CHST6, CHST7, CHST8, CHSY1, CHSY3, CHUK, CIB2, CIDEC, CIITA, CILP, CISD2, CISH, CITED2, CIZ1, CKAP2L, CKM, CKMT2, CLCF1, CLCN1, CLCN2, CLCN3, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN14, CLDN16, CLDN19, CLEC3B, CLEC7A, CLIC2, CLIC5, CLIP2, CLMP, CLN3, CLN5, CLN6, CLN8, CLOCK, CLP1, CLPP, CLPTM1, CLRN1, CLTCL1, CLU, CLYBL, CMPK1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNKSR1, CNKSR2, CNNM1, CNNM2, CNNM4, CNOT4, CNR1, CNR2, CNTF, CNTN1, CNTN2, CNTN4, CNTNAP2, CNTNAP4, CNTNAP5, COA5, COASY, COCH, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COLQ, COMMD1, COMP, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, CORIN, CORO1A, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7A1, COX7A2, COX7B, COX8A, CP, CPA6, CPB2, CPE, CPLANE1, CPN1, CPOX, CPS1, CPT1A, CPT1B, CPT2, CPZ, CR2, CRADD, CRB1, CRBN, CREB1, CREB3L3, CREBBP, CRELD1, CRH, CRIPT, CRISP2, CRKL, CRLF1, CRP, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CRYL1, CRYM, CSDE1, CSF1, CSF1R, CSF2, CSF2RA, CSF2RB, CSF3R, CSGALNACT1, CSMD1, CSMD3, CSNK1D, CSNK2A2, CSRP3, CST3, CST6, CSTA, CSTB, CSTF2T, CTC1, CTDP1, CTF1, CTGF, CTH, CTHRC1, CTLA4, CTNNA3, CTNNB1, CTNND2, CTNS, CTRC, CTSA, CTSC, CTSD, CTSF, CTSG, CTSK, CTTNBP2, CUBN, CUL2, CUL3, CUL4B, CUL5, CUL7, CWF19L1, CX3CR1, CXCL12, CXCL5, CXCR1, CXCR4, CYB5A, CYB5R3, CYB5R4, CYBA, CYBB, CYBRD1, CYC1, CYCS, CYFIP1, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A1P, CYP21A2, CYP24A1, CYP26B1, CYP26C1, CYP27A1, CYP27B1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, CYP2J2, CYP2R1, CYP2U1, CYP3A5, CYP4F22, CYP4V2, CYP7A1, CYP7B1, CYR61, D2HGDH, DAD1, DAG1, DAO, DARS, DARS2, DAZL, DBH, DBT, DCAF17, DCC, DCDC2, DCK, DCLRE1C, DCN, DCTD, DCTN1, DCX, DCXR, DDAH1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX25, DDX3X, DDX58, DEAF1, DECR1, DEFB126, DEPDC5, DES, DGCR2, DGKD, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHH, DHODH, DHTKD1, DHX37, DHX38, DIABLO, DIAPH1, DIAPH2, DIAPH3, DICER1, DIP2A, DIP2B, DIP2C, DIRC2, DIS3L2, DISC1, DISP1, DKC1, DKK3, DLAT, DLC1, DLD, DLEC1, DLG3, DLG4, DLGAP2, DLL1, DLL3, DLX3, DLX5, DLX6, DMAC2, DMC1, DMD, DMGDH, DMP1, DMPK, DMRT1, DMXL1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJB2, DNAJB6, DNAJC19, DNAJC30, DNAJC5, DNAJC6, DNAL1, DNASE1, DNASE1L3, DNASE2, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DNMT3L, DOC2A, DOCK3, DOCK4, DOCK6, DOCK7, DOCK8, DOCK9, DOK1, DOK2, DOK7, DOLK, DOLPP1, DOT1L, DPAGT1, DPM1, DPM2, DPM3, DPP10, DPP6, DPY19L2, DPYD, DPYS, DRAM2, DRC1, DRD1, DRD2, DRD3, DRD4, DRD5, DSC2, DSC3, DSCAM, DSE, DSG1, DSG2, DSG3, DSG4, DSP, DSPP, DST, DTNA, DTNBP1, DUOX2, DUOXA2, DVL1, DVL2, DVL3, DYM, DYNAP, DYNC1H1, DYNC2H1, DYRK1A, DYSF, E2F1, E2F4, E2F5, EARS2, EBAG9, EBP, ECE1, ECE2, ECEL1, ECHS1, ECI1, ECM1, ECM2, ECSIT, EDA, EDA2R, EDAR, EDARADD, EDN1, EDN3, EDNRA, EDNRB, EDRF1, EEF1A2, EEF2, EFCAB5, EFEMP1, EFEMP2, EFHC1, EFHC2, EFNA5, EFNB1, EFR3A, EFTUD2, EGF, EGFR, EGLN1, EGR2, EHBP1, EHD2, EHHADH, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELAC2, ELANE, ELF4, ELK1, ELK3, ELMOD2, ELMOD3, ELN, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, EMC4, EMD, EME1, EMG1, EMX1, EMX2, EN2, ENAM, ENG, ENO3, ENPP1, ENTPD1, EOMES, EP300, EPAS1, EPB41, EPB41L1, EPB42, EPC2, EPCAM, EPHA2, EPHA3, EPHA5, EPHA7, EPHB2, EPHB6, EPHX1, EPHX2, EPM2A, EPO, EPOR, EPS8, EPX, ERAP1, ERAP2, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ERMAP, ERMARD, ERRFI1, ESCO2, ESPN, ESPNP, ESR1, ESR2, ESRRB, ESS2, ETFA, ETFB, ETFDH, ETHE1, ETV4, ETV6, EVC, EVC2, EVI5, EWSR1, EXO1, EXO5, EXOC4, EXOSC3, EXOSC8, EXPH5, EXT1, EXT2, EXTL1, EXTL2, EXTL3, EYA1, EYA4, EYS, EZH2, F10, F11, F12, F13A1, F13B, F2, F2RL1, F5, F7, F8, F9, FA2H, FAAH, FAAH2, FABP1, FABP2, FADD, FAH, FAM111A, FAM126A, FAM161A, FAM205A, FAM20A, FAM20C, FAM47B, FAM47C, FAM83H, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARS2, FAS, FASLG, FASN, FASTKD2, FAT4, FBH1, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXL6, FBXO10, FBXO11, FBXO38, FBXO7, FBXW4, FBXW7, FCER1G, FCN2, FCN3, FDFT1, FDPS, FECH, FEM1A, FEM1B, FERMT1, FERMT3, FEZF2, FFAR1, FFAR4, FGA, FGB, FGD1, FGD3, FGD4, FGF10, FGF14, FGF2, FGF23, FGF3, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FGFRL1, FGG, FH, FHIT, FHL1, FHL2, FIG4, FIGLA, FKBP10, FKBP14, FKBP5, FKBP8, FKRP, FKTN, FLCN, FLG, FLI1, FLNA, FLNB, FLNC, FLT1, FLT3, FLT4, FLVCR1, FLVCR2, FMN1, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FMR1, FN1, FN3K, FOLH1, FOLH1B, FOLR1, FOXA1, FOXA2, FOXA3, FOXC1, FOXC2, FOXD3, FOXE1, FOXE3, FOXF1, FOXF2, FOXG1, FOXH1, FOXI1, FOXJ1, FOXK1, FOXL2, FOXM1, FOXN1, FOXO1, FOXP1, FOXP2, FOXP3, FOXRED1, FPGS, FPR1, FRAS1, FREM1, FREM2, FREM3, FRK, FRMD7, FRMPD4, FRY, FRZB, FSCB, FSCN2, FSHB, FSHR, FST, FTCD, FTH1, FTHL17, FTL, FTO, FTSJ1, FUCA1, FUS, FUT1, FUT2, FUT3, FUT5, FUT6, FUT7, FUT8, FUZ, FXN, FXYD2, FYCO1, FZD3, FZD4, FZD6, FZD9, G6PC, G6PC2, G6PC3, G6PD, GAA, GABBR1, GABBR2, GABRA1, GABRA2, GABRA6, GABRB2, GABRB3, GABRD, GABRG1, GABRG2, GABRR2, GAD1, GAD2, GADD45A, GAK, GAL3ST1, GAL3ST2, GAL3ST3, GAL3ST4, GALC, GALE, GALK1, GALNS, GALNT11, GALNT12, GALNT13, GALNT14, GALNT17, GALNT2, GALNT3, GALNT5, GALNT6, GALNT7, GALNT8, GALNT9, GALNTL6, GALT, GAMT, GAN, GANAB, GAP43, GARS, GAS1, GAS2L2, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATD3A, GATM, GBA, GBA2, GBE1, GBGT1, GC, GCDH, GCGR, GCH1, GCK, GCKR, GCLC, GCLM, GCM2, GCNT1, GCNT2, GCSH, GDAP1, GDF1, GDF2, GDF3, GDF5, GDF6, GDF9, GDI1, GDNF, GFAP, GFER, GFI1, GFI1B, GFM1, GFM2, GFPT1, GFRA1, GGCX, GGH, GHR, GHRH, GHRHR, GHRL, GHSR, GIF, GIGYF2, GIMAP8, GIP, GIPC3, GIPR, GIT1, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GJC3, GK, GLA, GLB1, GLCCI1, GLDC, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLO1, GLP1R, GLRA1, GLRB, GLRX5, GLUD1, GLUD2, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNA14, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNAT1, GNAT2, GNB1L, GNB3, GNB4, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA3, GOLGA5, GOPC, GORAB, GOSR2, GOT1, GP1BA, GP1BB, GP6, GP9, GPAM, GPATCH8, GPBAR1, GPC3, GPC4, GPC6, GPD1, GPD1L, GPD2, GPHN, GPI, GPIHBP1, GPNMB, GPR1, GPR12, GPR132, GPR139, GPR143, GPR179, GPS1, GPSM2, GPT, GRB10, GREM1, GRHL1, GRHL2, GRHL3, GRHPR, GRIA3, GRID1, GRID2, GRIK1, GRIK2, GRIK4, GRIN1, GRIN2A, GRIN2B, GRIN3A, GRIP1, GRK1, GRK3, GRK4, GRM1, GRM6, GRM7, GRN, GRPR, GRXCR1, GRXCR2, GSC, GSDME, GSE1, GSN, GSPT2, GSR, GSS, GSTA3, GSTM3, GSTP1, GSTT1, GSTZ1, GTF2H5, GTPBP2, GTPBP3, GUCA1A, GUCA1B, GUCY2C, GUCY2D, GUCY2F, GUSB, GYG1, GYPC, GYS1, GYS2, H6PD, HABP2, HACE1, HADH, HADHA, HADHB, HAL, HAMP, HAND1, HAND2, HAPLN1, HARS, HARS2, HAX1, HBA1, HBA2, HBB, HBD, HBE1, HBM, HCCS, HCFC1, HCN1, HCN2, HCN3, HCN4, HCRT, HCRTR2, HDAC4, HDAC6, HDAC8, HDAC9, HDC, HDGFL2, HDLBP, HDX, HECW2, HEPACAM, HEPH, HES7, HESX1, HEXA, HEXB, HEY1, HEY2, HFE, HGD, HGF, HGSNAT, HIBCH, HIF1A, HIGD2A, HINT1, HIP1, HIST1H2AE, HIST3H3, HIVEP2, HJV, HK1, HK2, HLCS, HLX, HMBS, HMCN1, HMGB3, HMGCL, HMGCR, HMGCS2, HMMR, HMOX1, HMX1, HMX2, HNF1A, HNF1B, HNF4A, HNMT, HNRNPH1, HNRNPH3, HNRNPU, HOGA1, HOMER2, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXB1, HOXB13, HOXB6, HOXB8, HOXC13, HOXD10, HOXD13, HOXD4, HPCA, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HRG, HSD11B1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B1, HSD3B2, HSD3B7, HSF1, HSF4, HSPA9, HSPB1, HSPB3, HSPB6, HSPB7, HSPB8, HSPD1, HSPE1, HSPG2, HTR1A, HTR1B, HTR2A, HTR2B, HTR2C, HTR3A, HTR3B, HTR3C, HTR3E, HTR7, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYI, HYLS1, IAPP, IARS2, IBA57, ICAM1, ICAM4, ICK, ICOS, ID3, ID4, IDH1, IDH2, IDH3B, IDO1, IDS, IDUA, IER3IP1, IFIH1, IFITM1, IFITM2, IFITM3, IFITM4P, IFITM5, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IFRD1, IFT122, IFT140, IFT172, IFT43, IFT80, IFT88, IGBP1, IGF1, IGF1R, IGF2, IGF2R, IGFALS, IGFBP7, IGHMBP2, IGLL1, IGLL3P, IGSF1, IHH, IKBIP, IKBKB, IKBKG, IKZF3, IL10, IL10RA, IL10RB, IL11RA, IL12B, IL12RB1, IL12RB2, IL13, IL17F, IL17RA, IL18RAP, IL1B, IL1R1, IL1RAPL1, IL1RN, IL20RB, IL21R, IL23R, IL2RA, IL2RG, IL3, IL31RA, IL36RN, IL4, IL4R, IL6, IL6R, IL6ST, IL7R, IL9R, ILDR1, ILK, IMMP2L, IMMT, IMPA1, IMPAD1, IMPDH1, IMPDH2, IMPG2, INAVA, INF2, ING1, INHA, INMT, INPP5B, INPP5E, INS, INSL6, INSR, INVS, IQCB1, IQGAP2, IQGAP3, IQSEC2, IRAK3, IRAK4, IRF1, IRF4, IRF5, IRF6, IRF8, IRS1, IRS2, IRS4, IRX4, IRX5, ISCU, ISL1, ISPD, ITCH, ITGA2, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA9, ITGAM, ITGB2, ITGB3, ITGB4, ITGB6, ITIH4, ITIH6, ITK, ITM2B, ITPA, ITPKC, ITPR1, ITSN2, IVD, IYD, JAG1, JAG2, JAK2, JAK3, JAM3, JCAD, JMJD1C, JPH2, JPH3, JUN, JUNB, JUP, KAAG1, KALRN, KANK1, KANSL1, KARS, KAT2A, KAT6A, KAT6B, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNE1, KCNE1B, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNH3, KCNIP4, KCNJ1, KCNJ10, KCNJ11, KCNJ12, KCNJ13, KCNJ18, KCNJ2, KCNJ5, KCNJ6, KCNJ8, KCNK18, KCNK3, KCNK9, KCNMA1, KCNMB1, KCNMB4, KCNN2, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KCNS1, KCNT1, KCNV1, KCNV2, KCTD1, KCTD13, KCTD17, KCTD7, KDM3A, KDM5A, KDM5C, KDM6A, KDM6B, KDR, KEL, KERA, KHDC3L, KHK, KIAA0100, KIAA0232, KIAA0319, KIF11, KIF17, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF22, KIF2A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KISS1R, KIT, KITLG, KIZ, KL, KLC1, KLF1, KLF10, KLF11, KLF6, KLF8, KLHDC8B, KLHL10, KLHL3, KLHL40, KLHL41, KLHL7, KLHL9, KLK1, KLK12, KLK4, KLKB1, KMT2D, KMT5B, KNG1, KNL1, KPNA1, KPNA7, KRAS, KRIT1, KRT1, KRT10, KRT12, KRT13, KRT14, KRT16, KRT17, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT75, KRT85, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KYNU, L1CAM, L2HGDH, L3MBTL1, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE1, LARGE2, LARS2, LAS1L, LBR, LCA5, LCAT, LCE2A, LCE3B, LCE3D, LCE3E, LCE5A, LCK, LCT, LDB1, LDB3, LDHA, LDHB, LDLR, LDLRAP1, LECT2, LEF1, LEFTY1, LEFTY2, LEMD3, LEP, LEPR, LETM1, LFNG, LGALS13, LGALS2, LGI1, LGI4, LGR5, LHB, LHCGR, LHFPL5, LHX1, LHX3, LHX4, LHX8, LIAS, LIF, LIFR, LIG1, LIG3, LIG4, LIM2, LIMK1, LINS1, LIPA, LIPC, LIPG, LIPH, LIPI, LIPN, LIPT1, LITAF, LLGL1, LMAN1, LMBR1, LMBRD1, LMF1, LMNA, LMNB1, LMNB2, LMO2, LMO4, LMOD3, LMTK3, LMX1B, LOR, LOX, LOXHD1, LOXL1, LPAR6, LPIN1, LPIN2, LPIN3, LPL, LPP, LRAT, LRBA, LRFN5, LRIT3, LRMDA, LRP1, LRP2, LRP4, LRP5, LRP5L, LRP6, LRP8, LRPPRC, LRRC4, LRRC6, LRRC8A, LRRFIP2, LRRK2, LRRTM1, LRSAM1, LRTOMT, LTBP1, LTBP2, LTBP3, LTBP4, LTBR, LTC4S, LTN1, LUM, LY96, LYN, LYST, LYZ, LZTFL1, LZTR1, LZTS1, MAB21L2, MACROD2, MAD1L1, MADD, MAF, MAFA, MAFB, MAGEE2, MAGEL2, MAGI2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN1A2, MAN1B1, MAN2A1, MAN2B1, MANBA, MAOA, MAOB, MAP2, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K7, MAP3K1, MAP3K14, MAP3K15, MAP3K8, MAP6, MAPK1, MAPK10, MAPT, MARS, MARS2, MARVELD2, MASP1, MASP2, MASTL, MAT1A, MATN3, MATR3, MAX, MBD1, MBD3, MBD4, MBD5, MBL2, MBNL1, MBOAT7, MBTPS2, MC1R, MC2R, MC3R, MC4R, MCC, MCCC1, MCCC2, MCEE, MCFD2, MCHR1, MCIDAS, MCM4, MCM5, MCM6, MCM9, MCOLN1, MCPH1, MDH2, MDK, MDM2, MDN1, ME2, MECOM, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2A, MEF2C, MEFV, MEGF10, MEGF11, MEGF8, MEIS1, MEN1, MERTK, MESD, MESP2, MET, MFAP4, MFAP5, MFF, MFGE8, MFN2, MFRP, MFSD2A, MFSD8, MGAT1, MGAT2, MGAT3, MGAT4A, MGAT4B, MGAT4C, MGAT5, MGAT5B, MGLL, MGME1, MGMT, MGP, MGST2, MGST3, MHRT, MIB1, MID1, MIF, MINPP1, MIP, MIPOL1, MIR1225, MIR1228, MIR1229, MIR1260B, MIR1292, MIR17HG, MIR3606, MIR3648-1, MIR3648-2, MIR3911, MIR4253, MIR4260, MIR4281, MIR4310, MIR4321, MIR4489, MIR4632, MIR4648, MIR4668, MIR4673, MIR4685, MIR4695, MIR4701, MIR4721, MIR4728, MIR4742, MIR4761, MIR5004, MIR6084, MIR6125, MIR631, MIR638, MIR639, MIR6505, MIR6511B1, MIR6511B2, MIR6515, MIR671, MIR6720, MIR6731, MIR6735, MIR6744, MIR6752, MIR6757, MIR6758, MIR6759, MIR6761, MIR6764, MIR6765, MIR6766, MIR6774, MIR6775, MIR6777, MIR6778, MIR6788, MIR6793, MIR6795, MIR6797, MIR6800, MIR6808, MIR6810, MIR6811, MIR6814, MIR6815, MIR6817, MIR6819, MIR6824, MIR6829, MIR6841, MIR6846, MIR6857, MIR6863, MIR6870, MIR6878, MIR6881, MIR6886, MIR6889, MIR6890, MIR6894, MIR6895, MIR7108, MIR711, MIR7113, MIR7114, MIR7846, MIR7855, MIR8077, MIR936, MIR937, MIR96, MITF, MKKS, MKL1, MKS1, MLC1, MLH1, MLH3, MLLT11, MLLT3, MLPH, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMEL1, MMGT1, MMP1, MMP13, MMP14, MMP2, MMP20, MMP21, MMP3, MMP8, MMP9, MN1, MNX1, MOCOS, MOCS1, MOCS2, MOGS, MOK, MPC1, MPDU1, MPDZ, MPG, MPI, MPL, MPLKIP, MPO, MPP6, MPST, MPV17, MPZ, MR1, MRAP, MRE11, MREG, MRPL15, MRPL19, MRPL3, MRPL43, MRPL44, MRPL48, MRPL57, MRPS12, MRPS16, MRPS17, MRPS18A, MRPS22, MRRF, MS4A1, MS4A12, MS4A2, MSH2, MSH3, MSH6, MSMB, MSMO1, MSR1, MSRA, MSRB3, MST1R, MSTN, MSX1, MSX2, MTA2, MTAP, MTCH2, MTFMT, MTHFD1, MTHFD1L, MTHFR, MTHFS, MTM1, MTMR14, MTMR2, MTMR9, MTNR1A, MTNR1B, MTO1, MTOR, MTPAP, MTR, MTRR, MTSS1, MTTP, MUC5B, MUC7, MUS81, MUSK, MUT, MUTYH, MVK, MXI1, MYB, MYBPC1, MYBPC3, MYC, MYCN, MYD88, MYF5, MYF6, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL2, MYL3, MYLK, MYLK2, MYO15A, MYO1A, MYO1C, MYO1E, MYO1F, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO7B, MYO9A, MYO9B, MYOC, MYOCD, MYOD1, MYOM1, MYOT, MYOZ2, MYPN, MYT1, MYT1L, NAA10, NAGA, NAGLU, NAGPA, NAGS, NALCN, NAPRT, NARS2, NAT1, NAT2, NAT8L, NAV2, NAV2-AS2, NBAS, NBEA, NBEAL2, NBN, NCAPD2, NCF2, NCF4, NCKAP1, NCOA1, NCS1, NCSTN, NDE1, NDN, NDOR1, NDP, NDRG1, NDST1, NDST2, NDST3, NDST4, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NECTIN1, NECTIN4, NEDD4, NEDD4L, NEFH, NEFL, NEFM, NEGR1, NEIL1, NEIL2, NEK1, NEK2, NEK8, NEU1, NEU2, NEUROD1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFATC2, NFATC3, NFATC4, NFE2L1, NFIA, NFIX, NFKB2, NFKBIA, NFKBIZ, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIN, NINJ1, NIPA1, NIPAL4, NIPBL, NIPSNAP1, NIPSNAP3A, NKAIN2, NKX2-1, NKX2-5, NKX2-6, NKX3-1, NKX3-2, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRC4, NLRP1, NLRP12, NLRP14, NLRP2, NLRP3, NLRP7, NLRX1, NME1, NME5, NME7, NME8, NMNAT1, NMT2, NNT, NOBOX, NOD1, NOD2, NODAL, NOG, NOL3, NOP10, NOS1, NOS1AP, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NPAS2, NPAS3, NPAT, NPC1, NPC1L1, NPC2, NPFFR2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPL, NPM1, NPPA, NPPC, NPR2, NPSR1, NPY, NPY1R, NPY2R, NQO1, NR0B1, NR0B2, NR1H2, NR1H3, NR1H4, NR1I2, NR1I3, NR2E1, NR2E3, NR2F1, NR2F2, NR3C1, NR3C2, NR4A1, NR4A2, NR4A3, NR5A1, NRAS, NRCAM, NRG1, NRL, NRP2, NRTN, NRXN1, NRXN2, NSD1, NSD2, NSDHL, NSMF, NSUN2, NSUN7, NT5E, NTF3, NTF4, NTHL1, NTNG1, NTRK1, NTRK2, NTRK3, NUAK1, NUBPL, NUDT1, NUMA1, NUP155, NUP214, NUP62, NXNL1, NYX, OAS1, OAS2, OAT, OBSCN, OBSL1, OCA2, OCLN, OCRL, ODAPH, ODC1, OFD1, OGG1, OGT, OLFM2, OLIG2, OLR1, OMG, OPA1, OPA3, OPHN1, OPLAH, OPN1SW, OPRL1, OPRM1, OPTC, OPTN, OR10X1, OR13G1, OR1B1, OR51G1, OR52H1, OR52N4, OR5AC2, OR5H6, OR8K3, ORAI1, ORC1, ORC4, ORC6, OSBPL2, OSMR, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTX2, OVCH2, OXCT1, P2RX1, P2RX2, P2RX5, P2RX7, P2RY12, P2RY4, P3H1, P3H2, P4HB, PABPC4L, PABPN1, PACRG, PACS1, PADI4, PAFAH1B1, PAFAH1B3, PAH, PAK3, PALB2, PALLD, PANK2, PAPSS2, PARD3B, PARK7, PARL, PARP1, PASK, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PBX1, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH18, PCDH19, PCDH9, PCDHA10, PCDHA13, PCDHB4, PCK1, PCK2, PCLO, PCM1, PCMT1, PCNT, PCOLCE, PCSK1, PCSK5, PCSK9, PDCD1, PDCD10, PDE10A, PDE11A, PDE4B, PDE4D, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDE8B, PDGFB, PDGFRA, PDGFRB, PDGFRL, PDHA1, PDHB, PDHX, PDK1, PDK3, PDLIM3, PDLIM4, PDP1, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PECR, PEPD, PER1, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAM5, PGAP1, PGBD3, PGK1, PGM1, PGM3, PGR, PGRMC1, PHB, PHC1, PHEX, PHF11, PHF2, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHLPP2, PHOX2A, PHOX2B, PHYH, PICALM, PICK1, PIEZO2, PIF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGR, PIGV, PIGZ, PIH1D3, PIK3AP1, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PIK3R5, PIKFYVE, PIM1, PIN1, PINK1, PIP5K1B, PIP5K1C, PITPNA, PITPNM3, PITX1, PITX2, PITX3, PJVK, PKD1, PKD2, PKHD1, PKLR, PKM, PKN3, PKP1, PKP2, PLA2G2A, PLA2G4A, PLA2G5, PLA2G6, PLA2G7, PLAG1, PLAGL1, PLAT, PLAU, PLCB1, PLCB4, PLCD1, PLCE1, PLCG2, PLCZ1, PLD2, PLEC, PLEKHG2, PLEKHG4, PLEKHG5, PLG, PLIN1, PLK4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLP2, PLSCR3, PLTP, PML, PMM2, PMP22, PMS1, PMS2, PNKD, PNKP, PNLIP, PNMT, PNP, PNPLA1, PNPLA2, PNPLA6, PNPO, PNPT1, POC1A, POC1B, POF1B, POFUT2, POGZ, POLB, POLD1, POLE, POLE2, POLG, POLG2, POLH, POLL, POLR1C, POLR1D, POLR3A, POLR3B, POLRMT, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, PON1, PON2, PON3, POP1, POR, PORCN, POSTN, POT1, POU1F1, POU3F4, POU4F3, PPARA, PPARG, PPARGC1A, PPARGC1B, PPIB, PPM1B, PPM1D, PPM1G, PPM1K, PPOX, PPP1R15B, PPP1R17, PPP1R1A, PPP1R3A, PPP1R3C, PPP2R1B, PPP2R2B, PPP2R2C, PPP2R5D, PPP3CA, PPP3R1, PPT1, PPT2, PQBP1, PRB1, PRB2, PRB3, PRB4, PRCC, PRCD, PRCP, PRDM16, PRDM5, PREPL, PRF1, PRG4, PRICKLE1, PRICKLE2, PRKAG2, PRKAG3, PRKAR1A, PRKCA, PRKCD, PRKCG, PRKCH, PRKCSH, PRKDC, PRKG1, PRKN, PRKRA, PRLH, PRLR, PRM1, PRM2, PRMT3, PRMT7, PRMT9, PRND, PRNP, PROC, PROCR, PRODH, PROK1, PROK2, PROKR1, PROKR2, PROM1, PROP1, PROS1, PROX1, PROZ, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS1, PRSS12, PRSS3P2, PRSS56, PRSS8, PRX, PSAP, PSEN1, PSEN2, PSENEN, PSMB8, PSMC3IP, PSPH, PSPN, PSTPIP1, PSTPIP2, PTAFR, PTCD1, PTCH1, PTCH2, PTCHD1, PTCHD3, PTEN, PTF1A, PTGDR, PTGER2, PTGER4, PTGIR, PTGIS, PTGS1, PTGS2, PTH1R, PTHLH, PTK7, PTPN1, PTPN11, PTPN12, PTPN14, PTPN22, PTPN6, PTPRC, PTPRJ, PTPRK, PTPRN2, PTPRO, PTPRQ, PTPRT, PTS, PURA, PUS1, PXDN, PYCR1, PYGL, PYGM, PYY, PZP, QARS, QDPR, QKI, RAB11FIP5, RAB18, RAB23, RAB25, RAB27A, RAB27B, RAB28, RAB29, RAB39B, RAB3GAP1, RAB3GAP2, RAB40A, RAB40AL, RAB7A, RABGGTA, RAC2, RAD21, RAD21L1, RAD50, RAD51, RAD51C, RAD51D, RAD54B, RAD54L, RAF1, RAG1, RAG2, RAI1, RALGDS, RANBP2, RANGAP1, RANGRF, RAP1GDS1, RAPSN, RARA, RARB, RARS, RARS2, RASA1, RASA2, RASGRP1, RASGRP2, RASSF5, RAX, RAX2, RB1, RB1CC1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBL1, RBL2, RBM10, RBM15, RBM20, RBM28, RBM8A, RBMXL2, RBP3, RBP4, RC3H1, RCBTB1, RD3, RDH11, RDH12, RDH5, RDH8, RDX, RECQL4, REEP1, REL, RELN, REN, REPS2, RET, RETN, RETREG1, RFC2, RFT1, RFX2, RFX5, RFX6, RFX8, RFXANK, RFXAP, RGMA, RGR, RGS2, RGS7, RGS9, RGS9BP, RHAG, RHBDF2, RHO, RHOG, RHOH, RIC1, RIMS1, RIMS3, RIN2, RIPK4, RIPOR2, RIT1, RLBP1, RMC1, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNASET2, RNF113A, RNF135, RNF139, RNF168, RNF170, RNF212, RNF213, RNF6, ROBO1, ROBO2, ROBO3, ROCK1, ROGDI, ROM1, ROR2, RORA, ROS1, RP1, RP1L1, RP2, RP9, RPA1, RPA4, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL26, RPL35A, RPL38, RPL5, RPN2, RPS10, RPS10P7, RPS14, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS6KL1, RPS7, RPTOR, RRAS, RRH, RRM2B, RS1, RSC1A1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO4, RSRC1, RTEL1, RTN2, RTN4R, RTTN, RUBCN, RUNX1, RUNX2, RUNX3, RUVBL1, RXFP2, RXRA, RXYLT1, RYR1, RYR2, RYR3, SACS, SAG, SAGE1, SALL1, SALL2, SALL4, SAMD9, SAMHD1, SAR1B, SARDH, SARS2, SART3, SASS6, SAT1, SATB2, SATL1, SBDS, SBF1, SBF1P1, SBF2, SC5D, SCARB1, SCARB2, SCARF2, SCGB1A1, SCGB3A2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCRIB, SCUBE2, SDC3, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23A, SEC23B, SEC24D, SEC63, SECISBP2, SELE, SELENON, SELL, SELP, SELPLG, SEMA3A, SEMA3E, SEMA4A, SEMA4C, SEMA4G, SEMA6D, SEMA7A, SEMG1, SEPSECS, SEPT12, SEPT9, SERAC1, SERPINA1, SERPINA10, SERPINA3, SERPINA6, SERPINA7, SERPINB11, SERPINB5, SERPINB6, SERPINC1, SERPIND1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SERPINI1, SERPINI2, SESN2, SETBP1, SETD2, SETX, SEZ6, SEZ6L2, SF3B1, SF3B4, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SGCA, SGCB, SGCD, SGCE, SGCG, SGO1, SGO1-AS1, SGSH, SH2B1, SH2B3, SH2D1A, SH3BP2, SH3GL1, SH3PXD2B, SH3TC2, SHANK2, SHANK3, SHARPIN, SHBG, SHH, SHMT1, SHMT2, SHOC2, SHOX, SHOX2, SHROOM3, SHROOM4, SI, SIAE, SIGLEC12, SIGMAR1, SIK1, SIL1, SIM1, SIM2, SIPA1, SIPA1L1, SIRT1, SIRT3, SIRT5, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SLC10A1, SLC10A2, SLC11A1, SLC11A2, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A2, SLC13A5, SLC14A1, SLC15A1, SLC16A1, SLC16A12, SLC16A2, SLC17A3, SLC17A5, SLC17A8, SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A3, SLC1A4, SLC1A5, SLC20A2, SLC22A1, SLC22A12, SLC22A18, SLC22A2, SLC22A3, SLC22A4, SLC22A5, SLC22A6, SLC22A9, SLC24A1, SLC24A2, SLC24A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A16, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A3, SLC25A32, SLC25A35, SLC25A38, SLC25A39, SLC25A4, SLC25A42, SLC25A5, SLC25A6, SLC26A1, SLC26A10, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A9, SLC27A4, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A2, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A4, SLC2A9, SLC30A10, SLC30A2, SLC30A5, SLC30A8, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC35G2, SLC36A2, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC40A1, SLC41A1, SLC41A2, SLC41A3, SLC44A2, SLC45A2, SLC46A1, SLC47A1, SLC47A2, SLC4A1, SLC4A10, SLC4A11, SLC4A3, SLC4A4, SLC4A7, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A11, SLC5A2, SLC5A5, SLC5A7, SLC5A8, SLC6A1, SLC6A11, SLC6A12, SLC6A13, SLC6A14, SLC6A18, SLC6A19, SLC6A2, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A10, SLC7A11, SLC7A14, SLC7A2, SLC7A7, SLC7A9, SLC9A3R1, SLC9A6, SLC9A9, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLCO5A1, SLFN14, SLFN5, SLIT3, SLITRK1, SLITRK5, SLITRK6, SLMAP, SLPI, SLURP1, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD7, SMAD9, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG6, SMIM3, SMN1, SMN2, SMO, SMOC1, SMOC2, SMPD1, SMPD3, SMPX, SMS, SMUG1, SNAI2, SNAP25, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNORD37, SNORD56, SNORD57, SNORD59A, SNORD59B, SNORD66, SNORD86, SNRK, SNRNP200, SNRPN, SNTA1, SNTG2, SNURF, SNX10, SNX14, SNX3, SOBP, SOCS3, SOD1, SOD2, SOD3, SOGA3, SOHLH1, SORCS1, SORL1, SORT1, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX5, SOX6, SOX7, SOX9, SP110, SP7, SP8, SPAG1, SPAG17, SPARC, SPART, SPAST, SPATA13, SPATA16, SPATA21, SPATA45, SPATA5, SPATA7, SPECC1, SPECC1L, SPEF2, SPEG, SPG11, SPG21, SPG7, SPI1, SPINK1, SPINK5, SPINT2, SPP1, SPR, SPRED1, SPRED2, SPRN, SPRY2, SPRY4, SPTA1, SPTAN1, SPTB, SPTBN1, SPTBN2, SPTBN5, SPTLC1, SPTLC2, SQSTM1, SRC, SRCAP, SRD5A2, SRD5A3, SREBF1, SREBF2, SRGAP2, SRGAP3, SRI, SRP72, SRPX, SRPX2, SRR, SRY, SSH1, SSPN, SSR4, SSTR5, ST14, ST20-MTHFS, ST3GAL1, ST3GAL2, ST3GAL3, ST3GAL4, ST3GAL5, ST3GAL6, ST5, ST6GAL1, ST6GAL2, ST6GALNAC1, ST6GALNAC2, ST6GALNAC3, ST6GALNAC4, ST6GALNAC5, ST6GALNAC6, ST7, ST8SIA1, ST8SIA2, ST8SIA3, ST8SIA4, ST8SIA5, ST8SIA6, STAC3, STAMBP, STAR, STAT1, STAT3, STAT4, STAT5B, STEAP3, STIL, STIM1, STK11, STK11IP, STK3, STK36, STK39, STK4, STOX1, STRA6, STRADA, STRC, STS, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUCO, SUFU, SUGCT, SULF1, SULT1C2, SULT2A1, SULT2B1, SULT4A1, SUMF1, SUMO4, SUOX, SURF1, SV2B, SYCE2, SYCP3, SYK, SYN1, SYN2, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNGR1, SYNM, SYNPO, SYP, SYT14, SYT2, SYTL3, SYTL5, SZT2, TAAR1, TAAR9, TAB2, TAC3, TACO1, TACR3, TACSTD2, TAF1, TAF15, TAF1C, TAF1L, TAF2, TAL1, TAL2, TALDO1, TARDBP, TARS2, TAS1R1, TAS1R3, TAS2R16, TAS2R3, TAS2R30, TAS2R38, TAS2R46, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D4, TBCE, TBK1, TBL1X, TBL1XR1, TBP, TBX1, TBX10, TBX15, TBX19, TBX2, TBX20, TBX21, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TBXT, TCAP, TCF21, TCF3, TCF4, TCF7L1, TCF7L2, TCIRG1, TCN1, TCN2, TCOF1, TCTE1, TCTE3, TCTN1, TCTN2, TCTN3, TDO2, TDP1, TDRD7, TEAD1, TEC, TECPR2, TECR, TECTA, TEK, TEKT2, TENM3, TERC, TERT, TET1, TET2, TEX14, TF, TFAM, TFAP2A, TFAP2B, TFB1M, TFE3, TFF1, TFPI, TFR2, TFRC, TG, TGFB1, TGFB2, TGFB3, TGFBI, TGFBR1, TGFBR2, TGFBR3, TGIF1, TGM1, TGM2, TGM5, TGM6, TH, THAP1, THBD, THBS1, THBS2, THOC2, THOC6, THPO, THRA, THRB, THSD7A, TIA1, TICAM1, TIMM13, TIMM44, TIMM50, TIMM8A, TIMM9, TIMP3, TINAG, TINF2, TIRAP, TJP2, TK2, TKT, TLL1, TLR1, TLR2, TLR3, TLR4, TLR5, TLR6, TLR9, TLX1, TLX2, TLX3, TM4SF19, TMC1, TMC2, TMC6, TMC8, TMCO1, TMEM114, TMEM126A, TMEM127, TMEM132E, TMEM135, TMEM138, TMEM165, TMEM173, TMEM187, TMEM216, TMEM231, TMEM237, TMEM240, TMEM38B, TMEM43, TMEM67, TMEM70, TMEM8A, TMEM99, TMIE, TMPO, TMPRSS15, TMPRSS3, TMPRSS5, TMPRSS6, TMTC3, TNC, TNF, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF1B, TNFRSF9, TNFSF11, TNFSF14, TNFSF4, TNK2, TNKS, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNP1, TNPO3, TNR, TNS2, TNS3, TNXB, TOMM40, TOP1, TOP1MT, TOP2A, TOPORS, TOR1A, TP53, TP53BP1, TP53RK, TP63, TP73, TPCN2, TPH1, TPH2, TPI1, TPK1, TPM1, TPM2, TPM3, TPMT, TPO, TPP1, TPRN, TRADD, TRAF3, TRAF3IP2, TRAK1, TRAPPC2, TRAPPC9, TRDN, TREH, TREM2, TRERF1, TREX1, TRHR, TRIB2, TRIB3, TRIM2, TRIM21, TRIM24, TRIM32, TRIM33, TRIM37, TRIO, TRIOBP, TRIP11, TRIP12, TRMT10A, TRMU, TRNT1, TROAP, TROVE2, TRPC3, TRPC4, TRPC6, TRPM1, TRPM2, TRPM3, TRPM4, TRPM6, TRPM7, TRPS1, TRPV1, TRPV3, TRPV4, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSG101, TSHB, TSHR, TSHZ1, TSLP, TSPAN12, TSPAN7, TSPEAR, TSPO, TSPYL1, TSSC4, TSSK4, TST, TTBK2, TTC19, TTC21B, TTC37, TTC7A, TTC8, TTI2, TTLL1, TTLL5, TTN, TTN-AS1, TTPA, TTR, TUB, TUBA1A, TUBA1B, TUBA1C, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWIST2, TWNK, TXN2, TXNIP, TXNL4A, TXNRD2, TYK2, TYMP, TYMS, TYR, TYRO3P, TYROBP, TYRP1, UACA, UBA1, UBAC2, UBE2A, UBE2B, UBE2NL, UBE3A, UBE3C, UBIAD1, UBQLN2, UBR1, UBR3, UBR5, UBR7, UCHL1, UCN, UCP1, UCP2, UCP3, UGCG, UGGT1, UGGT2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT2A1, UGT2A2, UGT2B10, UGT2B11, UGT2B4, UGT2B7, UGT8, UIMC1, ULK4, UMOD, UMPS, UNC119, UNC13D, UNC5C, UNC5CL, UNC80, UNG, UNKL, UPB1, UPF3B, UPK3A, UQCC2, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USH1C, USH1G, USH2A, USP1, USP15, USP26, USP46, USP9X, USP9Y, UST, UTF1, UTP4, UTRN, UVSSA, VAMP1, VAMP7, VANGL1, VANGL2, VAPB, VARS2, VAV1, VAX1, VCAM1, VCAN, VCL, VCP, VCX3B, VDAC1, VDR, VEGFA, VHL, VIM, VIPAS39, VKORC1, VLDLR, VMA21, VNN1, VPS13A, VPS13B, VPS33B, VPS35, VPS45, VPS53, VPS54, VRK1, VSIG4, VSX1, VSX2, VWF, WARS2, WAS, WASF3, WASHC4, WASHC5, WDFY3, WDPCP, WDR11, WDR13, WDR19, WDR26, WDR35, WDR36, WDR45, WDR62, WDR72, WDR73, WDR81, WFS1, WHRN, WIPF1, WISP3, WNK1, WNK4, WNT1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWC1, WWOX, WWTR1, XBP1, XDH, XIAP, XK, XPA, XPC, XPNPEP2, XPNPEP3, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XYLT1, XYLT2, YAP1, YARS, YARS2, YWHAE, YY1, ZAN, ZAP70, ZBTB16, ZBTB18, ZBTB24, ZBTB40, ZBTB41, ZBTB42, ZC3H14, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC8, ZDHHC15, ZDHHC17, ZDHHC9, ZEB1, ZEB2, ZFAT, ZFHX3, ZFP36, ZFP36L1, ZFP36L2, ZFP57, ZFP69, ZFP90, ZFPM2, ZFYVE26, ZFYVE27, ZHX3, ZIC1, ZIC2, ZIC3, ZIC4, ZMPSTE24, ZMYM3, ZMYND10, ZNF213, ZNF335, ZNF365, ZNF408, ZNF41, ZNF420, ZNF423, ZNF469, ZNF480, ZNF507, ZNF513, ZNF526, ZNF592, ZNF644, ZNF674, ZNF711, ZNF750, ZNF75D, ZNF80, ZNF804A, ZNF81, ZNHIT6, ZP1, ZPBP, ZPBP2 ( 4702 genes )

Coverage:

96% at 20x

Specimen Requirements:

Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)

Test Limitations:

Exome/Complete Analysis is a phenotype-driven test for a single individual (proband only). Family history and clinical information are required for all Clinical Exome orders. Incidental or secondary findings which do not match the test indication or clinical phenotype are not regularly reported. All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, most repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). If performed, repeat expansion analysis may not elicit the precise number of repeats present in large expansions. This assay is not designed or validated for the detection of somatic or mosaic mutations.

Gene Specifics:

Gene Notes
ARX Heterozygous polyalanine expansions of >7 repeats (21bp) in the ARX gene in females may not be detected by this method.
ATXN10 The current testing method does not assess repeat expansions in this gene.
CD40LG The current testing method does not assess trinucleotide repeat expansions in this gene.
CFHR5 Truncating variants, including partial or whole gene deletions, are typically not reported as they are very common in the general population and thus considered likely benign.
DIP2B The current testing method does not assess trinucleotide repeat expansions in this gene.
FOXL2 The current testing method does not assess trinucleotide repeat expansions in this gene.
GALNT12 Due to high GC content, copy-number variants located in exon 1 of the GALNT12 gene (NM_024642.4) cannot be reliably detected and will not be reported.
HYDIN Due significant pseudogene interference this test will only assess and report variants in exons 1-5 of the HYDIN gene (NM_001270974.2).
IL11RA The current testing method does not assess repeat expansions in this gene.
PIK3CA Because the vast majority of PIK3CA pathogenic variants arise postzygotic and are thus mosaic, more than one tissue may need to be tested. Failure to detect a PIK3CA pathogenic variant does not exclude a clinical diagnosis of the PIK3CA-associated segmental overgrowth disorders in individuals with suggestive features (PubMed: 23946963).
RUNX2 The current testing method does not assess trinucleotide repeat expansions in this gene.
SMN2 The current testing method for SMN2 (NM_017411.3) is limited to sequencing and deletion/duplication analysis of exon 7-8, under the condition that a diagnostic result was detected in SMN1. Sequencing and deletion/duplication analysis are not performed on any other region in this gene.
SOX3 The current testing method does not assess trinucleotide repeat expansions in this gene.
TNXB This gene is susceptible to significant pseudogene interference, particularly for exons 32-44 (NM_019105.6). Exons 33, 37, and 38 are not evaluated by this test. In addition, copy number analysis is not available for regions spanning exon 32-34 and 36-44. Sequencing variants detected in exons 32, 34-36, and 39-44 will be confirmed by long-range PCR and Sanger sequencing as an alternative methodology.
TPRN Exon 1 of this gene is currently not amenable to current sequencing methods, therefore, sequencing and deletion/duplication analysis will not be performed for this region.
TXNL4A The current testing method has not been validated to detect the common 34 bp deletion in the putative core promoter of TXNL4A.
ZIC2 The current testing method does not assess trinucleotide repeat expansions in this gene.
ZIC3 The current testing method does not assess trinucleotide repeat expansions in this gene.

CPT Codes:

CPT Code 81415

NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

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