Exome & Genome Sequencing -

Exome & Genome Sequencing

Clinical Exome Sequencing

Whole Genome Sequencing

Clinical Exome Sequencing

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.

Price: $1,600.00

Test Details

Overview

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. Depending on the case specifics, this analysis may or may not include Sanger sequencing of promoter regions or other non-coding regions in select genes. Similarly, this analysis may or may not include examination of limited genes for repeat expansion(s), performed by repeat-primed PCR (rpPCR) and amplicon length analysis. This analysis does not include any methylation studies or evaluation of mitochondrial-encoded genes. All Clinical Exome orders include Del/Dup analysis of phenotypically significant genes. Del/Dup analysis is designed to identify deletions or duplications which are two or more contiguous exons in size. Single exon deletions or duplications are not routinely detected by this assay, however may occasionally be identified. Deletions and duplications are reported at the exon level. Breakpoint locations are not analyzed. Del/Dup analysis will not be performed if a diagnosis or likely diagnosis is identified by sequencing.

*Results are considered likely to be diagnostic if a single heterozygous likely pathogenic or pathogenic variant is identified in a gene with autosomal dominant inheritance, X-linked dominant inheritance, or X-linked recessive inheritance (in a genetically male sample). Results are also considered diagnostic/likely diagnostic if two likely pathogenic or pathogenic variants (including homozygosity for a single variant or compound heterozygosity for two variants) are identified in a gene with autosomal recessive inheritance or X-linked recessive inheritance.

Genes

4701 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, 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

Clinical Utility

Diagnosis in adult and pediatric cases with phenotypic presentations
Prenatal
Reflex testing to array CGH

Lab Method & Assay

Next Generation Sequencing
Deletion/Duplication Analyses
Sanger Sequencing

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

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.
HCN2	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.
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.
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.
TUBB	Due to pseudogene interference, our current testing method is only able to reliably detect variants in exon 2 in the TUBB gene.
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.

Specimen Requirements

Buccal Swab

Turn Around Time

6-8 weeks