EXOME - SKELETAL DYSPLASIA (SKD) - v12 MGI

12

396 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ABCC9 ABL1 ACAN ACP4 ACP5 ACVR1 ADAMTS10 ADAMTS17 ADAMTSL2 AFF4 AGA AGPS AHDC1 AKT1 ALPL ALX1 ALX3 ALX4 AMER1 ANKH ANKRD11 ANO5 ANTXR2 APC ARCN1 ARHGAP31 ARID1A ARID1B ARSB ARSE ASCC1 ASXL2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BGN BHLHA9 BMP1 BMP2 BMPER BMPR1B BRIP1 C1R C1S C2CD3 CA2 CANT1 CASR CC2D2A CCDC8 CCNQ CD96 CDC45 CDC6 CDH3 CDKN1C CDT1 CEP120 CEP290 CHD7 CHST14 CHST3 CHSY1 CKAP2L CLCN5 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CREB3L1 CREBBP CRTAP CSPP1 CTSA CTSK CUL7 CYP26B1 DDR2 DDX58 DDX59 DHCR24 DHODH DLL3 DLX3 DLX5 DLX6 DMP1 DOCK6 DVL1 DVL3 DYM DYNC2H1 DYNC2LI1 EBP EDNRA EFNA4 EFNB1 EFTUD2 EIF2AK3 EIF4A3 ELMO2 ENPP1 EOGT EP300 ERCC4 ERF ESCO2 EVC EVC2 EXT1 EXT2 EZH2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FBLN1 FBN1 FBN2 FBXW4 FERMT3 FGF10 FGF16 FGF23 FGF3 FGF4 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FLNA FLNB FMN1 FN1 FREM1 FUCA1 FZD2 GALNS GALNT3 GDF3 GDF5 GDF6 GJA1 GLB1 GLI3 GNAS GNPAT GNPTAB GNPTG GNS GORAB GPC3 GPC6 GPR68 GPX4 GREM1 GUSB HDAC4 HDAC8 HES7 HOXA11 HOXA13 HOXD13 HPGD HSPG2 HUWE1 IARS2 ICK IDH1 IDH2 IDS IFITM5 IFT122 IFT140 IFT172 IFT43 IFT80 IGF1R IHH IKBKG IL11RA IL1RN IMPAD1 INPPL1 JAG1 KAT6B KIF22 KIF7 KRAS LBR LEMD3 LFNG LIFR LMBR1 LMNA LMX1B LONP1 LPIN2 LRIT3 LRP4 LRP5 LTBP2 LTBP3 MAB21L2 MAFB MAN2B1 MAN2C1 MAP3K7 MATN3 MEGF8 MEOX1 MESP2 MGP MITF MKS1 MMP13 MMP2 MMP9 MNX1 MSX2 MYCN MYT1 NAGLU NEK1 NEU1 NF1 NFIX NIPBL NKX3-2 NLRP3 NOG NOTCH2 NPR2 NSD1 NSDHL NTRK2 OBSL1 OFD1 ORC1 ORC4 ORC6 OSTM1 P3H1 P4HB PALB2 PAM16 PANK2 PAPSS2 PCNT PCYT1A PDE3A PDE4D PEX7 PGM3 PHEX PIGV PIK3CA PITX1 PLEKHM1 PLOD2 PLS3 POLR1A POLR1C POLR1D POP1 POR PPIB PRKAR1A PROK2 PTDSS1 PTH1R PTHLH PTPN11 PYCR1 RAB23 RAB33B RAD21 RAD51C RASGRP2 RBM8A RBPJ RECQL4 RMRP RNU4ATAC ROR2 RPGRIP1L RSPO2 RSPRY1 RUNX2 SALL1 SALL4 SBDS SEC24D SERPINF1 SERPINH1 SETD2 SF3B4 SH3BP2 SH3PXD2B SHOX SKI SLC17A5 SLC26A2 SLC29A3 SLC34A3 SLC35D1 SLC39A13 SLCO5A1 SLX4 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMC1A SMC3 SMO SNRPB SNX10 SOST SOX6 SOX9 SP7 STAT3 SULF1 SUMF1 TBCE TBX15 TBX3 TBX4 TBX5 TBX6 TBXAS1 TCF12 TCIRG1 TCOF1 TCTN3 TGDS TGFB1 TGFB2 TGFBR1 TGFBR2 THPO TMCO1 TMEM216 TMEM38B TMEM67 TNFRSF11B TP63 TRAPPC2 TREM2 TRIP11 TRIP4 TRPS1 TRPV4 TTC21B TWIST1 TYROBP UBE2T WDR19 WDR34 WDR35 WISP3 WNT1 WNT10B WNT3 WNT5A WNT6 WNT7A XYLT1 XYLT2 ZEB2 ZIC1 ZMPSTE24 ZSWIM6

EXOME - SKELETAL DYSPLASIA (SKD)

EXOME - THYROID DISORDERS (THD) - v11 MGI

11

38 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

AP2S1 CASR CDCA8 DUOX1 DUOX2 DUOXA2 DYRK1A ELN FOXE1 GAS1 GLIS3 GNA11 GNAS GNAS-AS1 IYD JAG1 KAT6B KDM6A KMT2D NKX2-1 NKX2-5 NTN1 PAX8 SALL1 SECISBP2 SLC11A2 SLC26A4 SLC26A7 SLC5A5 STX16 TBX1 TG THRA THRB TPO TSHR TUBB1 URB1

EXOME - THYROID DISORDERS (THD)

EXOME - CONGENITAL HEART DISEASE (CHD) - v11 MGI

11

29 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ANK3 BMPR2 BRAF CFC1 CITED2 CRELD1 GATA4 GATA5 GATA6 GDF1 GJA1 HAND1 HAND2 JAG1 KRAS MAP2K1 MAP2K2 MED13L NKX2-5 NKX2-6 PRKAG2 PRKAR1A SMAD3 TBX1 TBX20 TBX3 TBX5 TLL1 ZFPM2

EXOME - CONGENITAL HEART DISEASE (CHD)

EXOME - CARDIOMYOPATHIES (CM) - v11 MGI

11

208 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ABCC9 ACAD9 ACADVL ACE ACTA1 ACTC1 ACTN2 ADD3 ADRB2 AGT AGTR1 AKAP9 ALPK3 ANKRD1 APOA1 B2M BAG3 BRAF CACNA1C CACNB2 CALM1 CALM2 CALM3 CALR3 CASQ2 CASZ1 CAV3 CAVIN4 CBL CDH2 CHRM2 CMYA5 CNBP COA5 COA6 COX10 COX15 CRYAB CSRP3 CTF1 CTNNA3 DES DLG1 DMD DNAJC19 DNM1L DOLK DSC2 DSG2 DSP DTNA ECRG4 ELAC2 ELN EMD EYA4 FBXO32 FHL1 FHL2 FHOD3 FKRP FKTN FLNC FLT1 FOXD4 FXN GAA GATA4 GATA5 GATA6 GATAD1 GLA GTPBP3 HACD1 HADHB HAND1 HCN4 HIF1A HRAS HSPB6 HSPB7 ILK INS-IGF2 ISL1 JPH2 JUP KARS KAT2B KCND2 KCNE1 KCNH2 KCNJ12 KCNQ1 KIF20A KLF10 LAMA2 LAMA4 LAMP2 LDB3 LMNA LRRC10 MAP2K1 MAP2K2 MIB1 MIB2 MRPL3 MRPL44 MTO1 MYBPC3 MYH15 MYH6 MYH7 MYH7B MYL2 MYL3 MYLK2 MYO6 MYOM1 MYOM3 MYOZ1 MYOZ2 MYPN NAA10 NCOA6 NDUFAF1 NDUFV2 NEB NEBL NEXN NKX2-5 NPPA NRAP OBSCN OBSL1 OPA1 PDLIM3 PKP2 PLEC PLEKHM2 PLN PPCS PRDM16 PRKAG2 PRNP PSEN1 PSEN2 PTEN PTPN11 RAF1 RANGRF RBM20 RIT1 RPSA RRAGC RTKN2 RYR2 S100A1 SCN4B SCN5A SDHA SGCB SGCD SGCG SGK1 SHOC2 SLC12A1 SLC22A5 SLC25A3 SLC25A4 SMC1A SNTA1 SOD2 SOS1 SYNE1 SYNE2 SYNM TAF1A TAX1BP3 TAZ TBX20 TBX5 TCAP TCF21 TGFB3 TJP1 TK2 TMED4 TMEM43 TMEM87B TMPO TNNC1 TNNI3 TNNI3K TNNT2 TNNT3 TPM1 TRIM54 TRIM55 TRIM63 TRPM4 TSFM TTN TTR TXNRD2 VCL VEGFA YWHAE ZBTB17

EXOME - CARDIOMYOPATHIES (CM)

EXOME - EXTENDED CARRIER SCREENING (ECS) - v12 MGI

12

1234 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

AAAS AARS2 ABAT ABCA1 ABCA12 ABCA3 ABCA4 ABCB11 ABCB4 ABCB7 ABCC2 ABCC6 ABCC8 ABCD1 ABCD3 ABCG5 ABCG8 ABHD12 ABHD5 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACE ACO2 ACOX1 ACP5 ACSF3 ACSL4 ACTA1 ACY1 ADA ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS2 ADAMTSL2 ADAR ADGRG1 ADGRV1 ADSL AFG3L2 AGA AGK AGL AGPAT2 AGPS AGT AGTR1 AGXT AHCY AHI1 AICDA AIMP1 AIPL1 AIRE AK1 AK2 AKR1C2 ALAD ALAS2 ALDH18A1 ALDH1A3 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOB ALG1 ALG11 ALG12 ALG2 ALG3 ALG6 ALG8 ALG9 ALMS1 ALOX12B ALPL ALS2 ALX3 ALX4 AMACR AMH AMHR2 AMN AMPD1 AMT ANO10 ANO5 ANOS1 ANTXR2 AP3B1 AP4B1 AP4E1 APOB APOC2 APRT APTX AQP2 AR ARFGEF2 ARG1 ARL13B ARL6 ARSA ARSB ARSE ARX ASAH1 ASL ASNS ASPA ASPM ASS1 ATF6 ATIC ATM ATP13A2 ATP6V0A2 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8A2 ATP8B1 ATR ATRX AUH B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCKDHA BCKDHB BCOR BCS1L BEST1 BIN1 BLM BLOC1S6 BMP1 BMPER BMPR1B BRCA2 BRIP1 BRWD3 BSCL2 BSND BTD BTK BUB1B C12orf57 C12orf65 C19orf12 C8B CA2 CACNA1F CANT1 CAPN3 CASK CASQ2 CASR CAV3 CBS CC2D2A CCBE1 CCDC28B CCDC39 CCDC40 WISP3 CD19 CD3D CD3E CD3G CD40LG CD96 CDAN1 CDC45 CDC6 CDH23 CDK5RAP2 CDKL5 CDT1 CENPJ CEP152 CEP164 CEP290 CEP41 CEP57 CERKL CFP CFTR CHAT CHM CHMP1A CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHST6 CHSY1 CIITA CKAP2L CLCN1 CLCN2 CLCN5 CLCN7 CLDN1 CLDN14 CLDN16 CLDN19 CLN3 CLN5 CLN6 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 CNTN1 CNTNAP2 COG1 COG4 COG7 COG8 COL11A1 COL11A2 COL17A1 COL18A1 COL1A2 COL27A1 COL2A1 COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COL7A1 COL9A2 COLEC11 COLQ COQ2 COQ4 COQ8A COQ9 COX10 COX15 COX6B1 COX7B CP CPLANE1 CPS1 CPT1A CPT2 CRB1 CRLF1 ISPD CRTAP CRYAB CSPP1 CSTB CTC1 CTH CTNS CTSA CTSC CTSD CTSK CUBN CUL4B CUL7 CYB5R3 CYBA CYBB CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2U1 CYP4V2 CYP7B1 D2HGDH DARS DARS2 DBH DBT DCHS1 DCLRE1C DCX DDB2 DDC DDHD2 DDX59 DES DGUOK DHCR24 DHCR7 DHDDS DHH DHODH DIS3L2 DKC1 DLD DLG3 DLL3 DLX5 DMD DMP1 DNAAF1 DNAH11 DNAH5 DNAI1 DNAI2 DNAJC19 DNM2 DNMT3B DOCK6 DOCK8 DOK7 DOLK DPAGT1 DPM1 DPYD DSC2 DSG1 DSP DUOX2 DUOXA2 DYM DYNC2H1 DYSF EARS2 EBP ECEL1 ECM1 EDA EDAR EDARADD EDN3 EDNRB EFEMP2 EFNB1 EGR2 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF4A3 ELAC2 ELP1 EMD EMG1 ENPP1 EOGT EPB42 EPCAM EPG5 EPM2A ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ESCO2 ESRRB ETFA ETFB ETFDH ETHE1 EVC EVC2 EXOSC3 EYS F11 F13A1 F2 F5 F7 F8 F9 FA2H FAH FAM126A FAM161A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FARS2 FAS FASTKD2 FAT4 FBLN5 FBXL4 FECH FERMT3 FGA FGB FGD1 FGD4 FGF3 FGFR2 FGFR3 FGG FH FHL1 FIG4 FKBP14 FKRP FKTN FLNA FLNB FLVCR2 FMO3 FMR1 FOLR1 FOXE1 FOXN1 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FRMPD4 FSHR FTCD FTO FUCA1 G6PC G6PC3 G6PD GAA GALC GALE GALK1 GALNS GALNT3 GALT GAMT GAN GATA1 GATM GBA GBA2 GBE1 GCDH GCH1 GCSH GDAP1 GDF1 GDF5 GDF6 GFM1 GH1 GHR GIPC3 GJA1 GJB1 GJB2 GJB6 GJC2 GK GLA GLB1 GLDC GLE1 GLIS3 GLRA1 GLUL GMPPB GNAT2 GNE GNMT GNPAT GNPTAB GNPTG GNRHR GNS GP1BA GP1BB GP9 GPC3 GPC6 GPI GPIHBP1 GPSM2 GRHPR GRIA3 GRIP1 GRM1 GRN GSS GTF2H5 GUCY2D GUSB GYG1 GYS2 H6PD HADH HADHA HADHB HAL HAMP HAX1 HBB HCCS HCFC1 HDAC8 HEPACAM HES7 HESX1 HEXA HEXB HFE HGD HGSNAT HIBCH HJV HLCS HMGCL HMGCS2 HOGA1 HOXA2 HPD HPGD HPRT1 HPS1 HPS3 HPS4 HPS6 HSD11B2 HSD17B10 HSD17B3 HSD17B4 HSD3B2 HSD3B7 HSPG2 HTRA1 HUWE1 HYAL1 HYLS1 IBA57 ICK IDS IDUA IER3IP1 IFNGR1 IFNGR2 IFT122 IFT140 IFT172 IFT27 IFT80 IGBP1 IGF1 IGHMBP2 IHH IKBKG IL12B IL12RB1 IL1RAPL1 IL1RN IL2RG IL36RN IL7R IMPG2 INPP5E INSR INVS IQCB1 IQSEC2 ITGA2B ITGA6 ITGA8 ITGB2 ITGB3 ITGB4 IVD IYD JAK3 JAM3 JUP KARS KCNJ1 KCNJ11 KCNJ13 KCNQ1 KCNV2 KCTD7 KDM5C KHDC3L KIF14 KIF1A KIF1BP KIF4A KIF7 KISS1R KRT14 KRT18 KRT5 KRT8 L1CAM L2HGDH LAMA1 LAMA2 LAMA3 LAMB1 LAMB2 LAMB3 LAMC2 LAMC3 LAMP2 LARGE1 LARS2 LAS1L LBR LCA5 LCAT LCT LDLR LHB LHCGR LHX3 LIFR LIG4 LIPA LMBR1 LMNA LOXHD1 LPIN2 LPL LRAT LRP2 LRP4 LRP5 LRPPRC LRRC6 LRTOMT LTBP2 LTBP4 LYST LZTFL1 MAK MAN1B1 MAN2B1 MASP1 MAT1A MBTPS2 MC2R MCCC1 MCCC2 MCEE MCOLN1 MCPH1 MED12 MED17 MEFV MEGF10 MEOX1 MERTK MESP2 MFN2 MFSD8 MGAT2 MGP MID1 MKKS MKS1 MLC1 MLH1 MMAA MMAB MMACHC MMADHC MMP2 MUT MOCS1 MOCS2 MOGS MPDU1 MPI MPL MPV17 MPZ MRE11 MRPS16 MRPS22 MSH2 MSH6 MTFMT MTHFR MTM1 MTR MTRR MTTP MUSK MUTYH MVK MYD88 MYH2 MYH7 MYO15A MYO5A MYO5B MYO6 MYO7A NAA10 NAGA NAGLU NAGS NBAS NBEAL2 NBN NCF2 NDE1 NDP NDRG1 NDUFAF2 NDUFAF4 NDUFAF5 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NECTIN1 NEFL NEK1 NEU1 NEUROG3 NEXMIF NHEJ1 NHLRC1 NHS NIN NKX2-5 NLRP7 NMNAT1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPR2 NR0B1 NR2E3 NSDHL NSUN2 NT5C2 NT5C3A NTHL1 NTRK1 NUBPL NUP62 OAT OCA2 OCLN OCRL OFD1 OPA3 OPHN1 OPTN ORAI1 ORC1 ORC4 ORC6 OSTM1 OTC OTOA OTOF OXCT1 P3H1 PAH PAK3 PANK2 PAPSS2 PARK7 PAX3 PC C2orf71 PCBD1 PCCA PCCB PCDH15 PCDH19 PCNT PDE6A PDE6B PDE6C PDE6D PDE6H PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PDX1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGK1 PGM1 PHF6 PHF8 PHGDH PHKB PHYH PIEZO2 PIGA PIGL PIGV PINK1 PIP5K1C PKHD1 PKLR PLA2G6 PLCB4 PLCE1 PLEC PLEKHG5 PLG PLK4 PLOD1 PLOD3 PLP1 PMM2 PMP22 PMS2 PNKP PNP PNPLA2 PNPLA6 PNPO POLG POLH POLR1C POLR3A POLR3B POMC POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F4 PPIB PPT1 PQBP1 PRDM5 PREPL PRF1 PRG4 PRKN PROC PRODH PROM1 PROP1 PROS1 PRPH2 PRPS1 PRRX1 PRSS56 PRX PSAP PSAT1 PTH1R PTS PUS1 PYCR1 PYGL PYGM RAB18 RAB23 RAB27A RAB3GAP1 RAB3GAP2 RAD51C RAG1 RAG2 RAPSN RARS2 RAX RBM10 RBM8A RD3 RDH12 RECQL4 RELN REN RFT1 RFX6 RHO RIPK4 RLBP1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC ROGDI ROR2 RP1 RP2 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPS6KA3 RRM2B RS1 RSPH4A RTEL1 RTTN RXYLT1 RYR1 SACS SAMHD1 SBDS SC5D SCARB2 SCARF2 SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SDCCAG8 SDHA SDHD SEC23A SEC23B SELENON SEPSECS SERPINA1 SERPINF1 SETX SFTPB SGCA SGCB SGCD SGCG SGSH SH2D1A SH3PXD2B SH3TC2 SHROOM4 SI SIL1 SIX6 SLC12A1 SLC12A3 SLC12A6 SLC16A1 SLC16A2 SLC17A5 SLC19A3 SLC22A12 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A4 SLC26A2 SLC26A3 SLC26A4 SLC27A4 SLC2A1 SLC2A10 SLC2A2 SLC2A9 SLC30A10 SLC34A2 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A4 SLC3A1 SLC45A2 SLC46A1 SLC4A1 SLC4A11 SLC52A3 SLC5A5 SLC6A3 SLC6A5 SLC6A8 SLC7A7 SLC7A9 SLC9A6 SLX4 SMARCAL1 SMC1A SMN1 SMN2 SMOC1 SMPD1 SMS SNAP29 SNIP1 SOD1 SOX3 SP110 SPATA7 SPG11 SPG7 SPINT2 SPR SPTBN2 SRD5A2 SRD5A3 ST3GAL3 ST3GAL5 STAC3 STAMBP STAR STAT1 STIL STIM1 STRA6 STS STX11 STXBP2 SUCLA2 SUCLG1 SUMF1 SUOX SURF1 SYN1 SYNE1 SYP TACR3 TACSTD2 TAF2 TAT TAZ TBC1D20 TBC1D24 TBCE TBX15 TBX22 TBX6 TCAP TCIRG1 TCTN1 TCTN2 TCTN3 TECPR2 TECTA TERT TFR2 TG TGM1 TH TIMM8A TJP2 TK2 TMC1 TMCO1 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TMIE TMPRSS3 TNFRSF11A TNFRSF11B TNFRSF13B TNNT1 TNXB TPI1 TPK1 TPM3 TPO TPP1 TRAPPC9 TREM2 TREX1 TRIM32 TRIM37 TRIOBP TRIP11 TRMU TRPM6 TSEN2 TSEN34 TSEN54 TSFM TSHB TSHR TSPAN7 TSPYL1 TTC19 TTC21B TTC8 TTPA TUBA8 TUBGCP6 TUFM TULP1 TUSC3 TWNK TYK2 TYMP TYR TYROBP UBA1 UBE3B UBR1 UGT1A1 UNC13D UPF3B UQCRB UQCRQ UROS USH1C USH1G USH2A USP9X VAX1 VDR VIPAS39 VLDLR VPS13A VPS13B VPS33B VPS45 VRK1 VSX2 VWF WAS WASHC5 WDPCP WDR19 WDR34 WDR35 WDR60 WDR62 WDR81 WFS1 WHRN WNK1 WNT10A WNT10B WNT3 WNT4 WNT7A WRN WWOX XPA XPC XRCC4 XYLT1 YARS2 ZAP70 ZDHHC9 ZFYVE26 ZIC3 ZMPSTE24 ZNF423 ZNF469

EXOME - EXTENDED CARRIER SCREENING (ECS)

EXOME - LYSOSOMAL STORAGE DISEASE (LSD) - v11 MGI

11

64 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ADCY5 AGA ARSA ARSB ASAH1 CHIT1 CLN3 CLN5 CLN6 CLN8 CTNS CTSA CTSC CTSD CTSK DGUOK FBXL4 FUCA1 GAA GALC GALNS GBA GLA GLB1 GM2A GNPTAB GNPTG GNS GUSB HEXA HEXB HGSNAT HYAL1 IDS IDUA LAMP2 LIPA MAN2B1 MANBA MCOLN1 MFSD8 MGME1 MPV17 NAGA NAGLU NEU1 NPC1 NPC2 OCRL POLG PPT1 PSAP RRM2B SGSH SLC17A5 SMPD1 STS SUCLA2 SUCLG1 SUMF1 TK2 TPP1 TWNK TYMP

EXOME - LYSOSOMAL STORAGE DISEASE (LSD)

EXOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD) - v12 MGI

12

258 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ACTB ACTG1 ADAT3 ADGRG1 AGBL2 AHI1 AKT1 AKT3 AMER1 AP1S2 AP4E1 AP4M1 AP4S1 ARFGEF2 ARHGAP31 ARID1B ARL13B ARX ASNS ASPM ASXL1 ATP1A2 ATP1A3 ATP6V0A2 ATR B3GALNT2 B3GNT2 B4GAT1 BICD2 C2CD3 CACNA1E CASK CCND2 CDK5 CDK5RAP2 CDK6 CDON CENPE CENPJ CEP135 CEP152 CEP290 CEP55 CEP85L CHD7 CHD8 CIT CKAP2L CNOT1 CNTNAP2 COL18A1 COL24A1 COL3A1 COL4A1 COL4A2 CRADD CSF1R CSPP1 CUL4B DAB1 DAG1 DCHS1 DCLK2 DCX DDX3X DEPDC5 DHCR7 DISP1 DKC1 DOCK6 DYNC1H1 ECE2 EIF2AK3 EIF2S3 EMG1 EML1 EMX2 EOMES EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERMARD EZH2 FAT4 FGF8 FH FIG4 FKRP FKTN FLNA FOXC1 FOXG1 FOXH1 FUBP1 GAS1 GLI2 GLI3 GMPPB GNAQ GPC3 GPSM2 GRIN1 GRIN2B HEPACAM HERC1 HNRNPU HSD17B4 HYLS1 IER3IP1 IHH INTS8 ISPD JAM3 KANSL1 KAT6A KAT6B KATNB1 KCNQ1 KDM5C KIAA1109 KIF11 KIF1BP KIF21B KIF2A KIF5C KIF7 KNL1 L1CAM LAMA1 LAMA2 LAMB1 LAMC3 LARGE1 MACF1 MAN2C1 MAP1B MAPK8IP3 MCPH1 MECP2 MED12 MED17 MEF2C MFSD2A MID1 MPDZ MTOR MYCN MYH10 NBN NDE1 NEDD4L NFIB NHEJ1 NIPBL NODAL NPRL2 NPRL3 NR2F1 NSD1 NSDHL OCLN OFD1 PAFAH1B1 PAX6 PCNT PEX1 PHF6 PI4KA PIGA PIK3CA PIK3R2 PITX2 PLK4 PNKP POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKDC PRRX1 PSAT1 PTCH1 PTCH2 PTEN PYCR2 QARS RAB18 RAB3GAP1 RAB3GAP2 RELN RHEB RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU4ATAC RTTN RXYLT1 SAMHD1 SCN3A SETD5 SF3B4 SHH SIN3A SIX3 SLC25A19 SLC35A2 SLC9A6 SMO SMPD4 SNAP29 SOX9 SPATA5 SRD5A3 SRPX2 STAMBP STIL STRADA SUFU TBC1D20 TBC1D24 TBC1D7 TCF4 TCTN1 TGIF1 TMEM216 TMEM67 TMX2 TNS2 TREX1 TSC1 TSC2 TSEN54 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 UBE3A VLDLR VPS13B WDR62 WDR73 WDR81 YWHAE ZEB2 ZIC2 ZNF335 ZSWIM6

EXOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD)

EXOME - PRIMARY CARDIAC ARRHYTHMIAS (PCA) - v12 MGI

12

113 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ABCC9 ACTN2 ADRB1 ADRB2 AGTR1 AGXT2 AKAP9 ALG10B ANK2 BAG3 CACNA1C CACNA2D1 CACNA2D4 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CIT CKMT2 CRP CSRP3 CTNNA3 DEPDC5 DPP6 DSC2 DSG2 DSP EMD FGF12 GATA4 GATA5 GATA6 GJA5 GPD1L HCN4 HSPA1L JPH2 JUP KCNA5 KCNAB2 KCNB2 KCND3 KCNE1 KCNE2 KCNE3 KCNE4 KCNE5 KCNH2 KCNJ16 KCNJ2 KCNJ5 KCNJ8 KCNK17 KCNK3 KCNQ1 KCNT1 KIF21B LMNA MYBPC3 MYH6 MYH7 MYL4 NAA10 NKX2-5 NKX2-6 NOS1AP NPPA NUP155 NUP37 PI4KA PIK3CG PITX2 PKP2 PLN PRRX1 RANGRF RBM20 REM2 RIMS1 RNF207 RYR1 RYR2 SCN10A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCNN1A SDHAF3 SEMA3A SHOX2 SIRT6 SLC2A5 SLC4A3 SLMAP SNTA1 TBX5 TGFB2 TKT TNNI3 TPM1 TRDN TRPM4 TTN UBR4 UBR5 WDR26 XIRP1 ZC3HC1

EXOME - PRIMARY CARDIAC ARRHYTHMIAS (PCA)

EXOME - MITOCHONDRIAL NUCLEAR PANEL (MITO) - v12 MGI

12

361 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

AARS2 ABAT ABCB7 ACAD9 ACO2 ADPRHL2 AFG3L2 AGK AIFM1 ALDH1B1 ANO10 APOO APOPT1 APTX ATAD3A ATAD3B ATAD3C ATL1 ATL3 ATP5F1A ATP5F1B ATP5F1C ATP5F1D ATP5F1E ATP5IF1 ATP5MC1 ATP5MC2 ATP5MC3 ATP5MD ATP5ME ATP5MF ATP5MG ATP5MGL ATP5PB ATP5PD ATP5PF ATP5PO ATP5S ATPAF1 ATPAF2 BCS1L BOLA1 BOLA2 BOLA3 C12orf65 C19orf12 C19orf70 C1QBP CARS2 CEP89 CHCHD10 CHKB CISD2 CLPB CLPP COA1 COA3 COA5 COA6 COA7 COASY COQ2 COQ4 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7B2 COX7C COX8A COX8C CYC1 CYCS DARS2 DDHD1 DES DGUOK DHTKD1 DLAT DLD DLST DNA2 DNAJC19 DNAJC3 DNAJC30 DNM1L EARS2 ECHS1 ECSIT ELAC2 ETHE1 FARS2 FASTKD2 FBXL4 FDX1L FDXR FH FOXRED1 FSIP1 FXN GARS GATB GATC GATM GCH1 GFER GFM1 GFM2 GLRX5 GLUD1 GTPBP3 HACD1 HARS2 HCCS HIBCH HLCS HSD17B10 HSPA9 HSPD1 HTRA2 IARS2 IBA57 IMMT ISCA1 ISCA2 ISCU KARS KIAA0391 LACTB LARS2 LIAS LIPT1 LIPT2 LONP1 LRPPRC LYRM4 LYRM7 MARS2 MCUR1 MDH2 MFF MFN2 MGME1 MICU1 MIEF2 MIPEP MPC1 MPV17 MRM2 MRM3 MRPL12 MRPL3 MRPL44 MRPL57 MRPS14 MRPS16 MRPS2 MRPS22 MRPS25 MRPS34 MRPS7 MRRF MSTO1 MTFMT MTO1 MTPAP MUT NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA3 NDUFA4 NDUFA5 NDUFA6 NDUFA7 NDUFA8 NDUFA9 NDUFAB1 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF7 NDUFB1 NDUFB10 NDUFB11 NDUFB2 NDUFB3 NDUFB4 NDUFB5 NDUFB6 NDUFB7 NDUFB8 NDUFB9 NDUFC1 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS5 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3 NFS1 NFU1 NR2F1 NSUN3 NUBPL OGDH OGDHL OPA1 OPA3 OXA1L PANK2 PARS2 PC PDHA1 PDHB PDHX PDK1 PDK2 PDK3 PDK4 PDP1 PDSS1 PDSS2 PET100 PET117 PIGA PINK1 PISD PITRM1 PMPCA PNPT1 POLG POLG2 POLR3A PPA2 PTRH2 PUS1 PYCR1 PYCR2 QRSL1 RARS2 REEP1 RMND1 RNASEH1 RRM2B RTN4IP1 SARS2 SCO1 SCO2 SDHA SDHAF1 SDHB SDHD SERAC1 SFXN4 SLC19A2 SLC19A3 SLC25A1 SLC25A12 SLC25A13 SLC25A19 SLC25A22 SLC25A24 SLC25A3 SLC25A32 SLC25A4 SLC25A46 SLC25A5 SLC25A6 SLC39A8 SPART SPAST SPATA5 SPG7 SQSTM1 SSBP1 STXBP1 SUCLA2 SUCLG1 SUCLG2 SURF1 TACO1 TANGO2 TARS2 TAZ THG1L TIMM44 TIMM50 TIMM8A TIMMDC1 TK2 TMEM126A TMEM126B TMEM230 TMEM70 TOMM70 TOP3A TPK1 TRIAP1 TRIT1 TRMT10C TRMT5 TRMU TRNT1 TSFM TTC19 TUFM TWNK TXN2 TYMP UBA52 UQCC1 UQCC2 UQCC3 UQCR10 UQCR11 UQCRB UQCRC1 UQCRC2 UQCRFS1 UQCRH UQCRQ VARS2 VPS13B VPS13D WARS2 YARS2 YME1L1

EXOME - MITOCHONDRIAL NUCLEAR PANEL (MITO)

EXOME - AMYLOIDOSIS (AMYL) - v1 MGI

1

25 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ADA2 APOA1 APOA2 APOC2 APOC3 APP B2M CST3 FGA GPNMB GSN IL31RA LTF LYZ MEFV MVK NLRP3 NPHS1 OSMR RET SAA1 SAA4 TNF TNFRSF1A TTR

EXOME - AMYLOIDOSIS (AMYL)

EXOME - AMYLOIDOSIS (AMYL) - v1

1

25 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

ADA2 APOA1 APOA2 APOC2 APOC3 APP B2M CST3 FGA GPNMB GSN IL31RA LTF LYZ MEFV MVK NLRP3 NPHS1 OSMR RET SAA1 SAA4 TNF TNFRSF1A TTR

EXOME - AMYLOIDOSIS (AMYL)

EXOME - MITOCHONDRIAL NUCLEAR PANEL (MITO) - v12

12

361 genes

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

AARS2 ABAT ABCB7 ACAD9 ACO2 ADPRHL2 AFG3L2 AGK AIFM1 ALDH1B1 ANO10 APOO APOPT1 APTX ATAD3A ATAD3B ATAD3C ATL1 ATL3 ATP5F1A ATP5F1B ATP5F1C ATP5F1D ATP5F1E ATP5IF1 ATP5MC1 ATP5MC2 ATP5MC3 ATP5MD ATP5ME ATP5MF ATP5MG ATP5MGL ATP5PB ATP5PD ATP5PF ATP5PO ATP5S ATPAF1 ATPAF2 BCS1L BOLA1 BOLA2 BOLA3 C12orf65 C19orf12 C19orf70 C1QBP CARS2 CEP89 CHCHD10 CHKB CISD2 CLPB CLPP COA1 COA3 COA5 COA6 COA7 COASY COQ2 COQ4 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7B2 COX7C COX8A COX8C CYC1 CYCS DARS2 DDHD1 DES DGUOK DHTKD1 DLAT DLD DLST DNA2 DNAJC19 DNAJC3 DNAJC30 DNM1L EARS2 ECHS1 ECSIT ELAC2 ETHE1 FARS2 FASTKD2 FBXL4 FDX1L FDXR FH FOXRED1 FSIP1 FXN GARS GATB GATC GATM GCH1 GFER GFM1 GFM2 GLRX5 GLUD1 GTPBP3 HACD1 HARS2 HCCS HIBCH HLCS HSD17B10 HSPA9 HSPD1 HTRA2 IARS2 IBA57 IMMT ISCA1 ISCA2 ISCU KARS KIAA0391 LACTB LARS2 LIAS LIPT1 LIPT2 LONP1 LRPPRC LYRM4 LYRM7 MARS2 MCUR1 MDH2 MFF MFN2 MGME1 MICU1 MIEF2 MIPEP MPC1 MPV17 MRM2 MRM3 MRPL12 MRPL3 MRPL44 MRPL57 MRPS14 MRPS16 MRPS2 MRPS22 MRPS25 MRPS34 MRPS7 MRRF MSTO1 MTFMT MTO1 MTPAP MUT NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA3 NDUFA4 NDUFA5 NDUFA6 NDUFA7 NDUFA8 NDUFA9 NDUFAB1 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF7 NDUFB1 NDUFB10 NDUFB11 NDUFB2 NDUFB3 NDUFB4 NDUFB5 NDUFB6 NDUFB7 NDUFB8 NDUFB9 NDUFC1 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS5 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3 NFS1 NFU1 NR2F1 NSUN3 NUBPL OGDH OGDHL OPA1 OPA3 OXA1L PANK2 PARS2 PC PDHA1 PDHB PDHX PDK1 PDK2 PDK3 PDK4 PDP1 PDSS1 PDSS2 PET100 PET117 PIGA PINK1 PISD PITRM1 PMPCA PNPT1 POLG POLG2 POLR3A PPA2 PTRH2 PUS1 PYCR1 PYCR2 QRSL1 RARS2 REEP1 RMND1 RNASEH1 RRM2B RTN4IP1 SARS2 SCO1 SCO2 SDHA SDHAF1 SDHB SDHD SERAC1 SFXN4 SLC19A2 SLC19A3 SLC25A1 SLC25A12 SLC25A13 SLC25A19 SLC25A22 SLC25A24 SLC25A3 SLC25A32 SLC25A4 SLC25A46 SLC25A5 SLC25A6 SLC39A8 SPART SPAST SPATA5 SPG7 SQSTM1 SSBP1 STXBP1 SUCLA2 SUCLG1 SUCLG2 SURF1 TACO1 TANGO2 TARS2 TAZ THG1L TIMM44 TIMM50 TIMM8A TIMMDC1 TK2 TMEM126A TMEM126B TMEM230 TMEM70 TOMM70 TOP3A TPK1 TRIAP1 TRIT1 TRMT10C TRMT5 TRMU TRNT1 TSFM TTC19 TUFM TWNK TXN2 TYMP UBA52 UQCC1 UQCC2 UQCC3 UQCR10 UQCR11 UQCRB UQCRC1 UQCRC2 UQCRFS1 UQCRH UQCRQ VARS2 VPS13B VPS13D WARS2 YARS2 YME1L1

EXOME - MITOCHONDRIAL NUCLEAR PANEL (MITO)