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1 Ion Torrent

2 3 Ion AmpliSeq 4 Ion AmpliSeq 10 Ion AmpliSeq 11 Ion AmpliSeq 11 Ion AmpliSeq 12 Ion AmpliSeq 12 Ion Library Equalizer 12 Ion Xpress Barcode Ion AmpliSeq 14 Ion AmpliSeq / Ion Reporter 16 Ion TargetSeq TaqMan 19 SNP 20 SNP

3 Ion AmpliSeq Ion AmpliSeq PCR DNA PCRPCR PCR 10ngDNA FFPE PCR ~ Ion AmpliSeq Custom Panels Ion AmpliSeq Designer Ion AmpliSeq Library Kit Ion OneTouch Ion PGM Torrent Ion Reporter 3

4 Ion AmpliSeq Ion AmpliSeq DNA Ion AmpliSeq Cancer Hotspot Panel v NCI 50 2,790 10ng DNA PCR PCR Ion AmpliSeq Library Kit ng 1PCR Ion 314 / 316 / 318 chip FFPE bp154 bp 1 DNA 10 ng 10 ng x 1 10 * >95% ** >90% KRAS BRAF EGFR TP53 PIK3CA CSF1R JAK2 NRAS PTPN11 ERBB2 SRC FGFR3 NPM1 CDKN2A RET HNF1A SMAD4 GNAS PDGFRA MPL ABL1 PTEN FLT3 STK11 SMARCB1 KIT MET NOTCH1 FGFR2 RB1 JAK3 VHL KDR SMO EZH2 HRAS AKT1 ALK MLH1 FBXW7 FRBB4 GNA11 ATM CDH1 IDH1 CTNNB1 APC FGFR1 GNAQ TaqMan Mutation Detection Kit IDH2 22 * Ion AmpliSeq Cancer Hotspot Panel v ,000 Ion AmpliSeq Library Kit 2.0* ,000 Ion Xpress Barcode Adaptors 1-16 Kit** NA *20% **1 16BC ,000 Ion AmpliSeq Comprehensive Cancer Panel 16,000 4 DNACDS DNA 1 Ion AmpliSeq Cancer Hotspot Panel v ng DNA 4PCR 41 Ion 318 FFPE bp155 bp 4 DNA 40 ng 10 ng x 4 16 * >90% ** >95% * Ion AmpliSeq Comprehensive ,000 Cancer Panel Ion AmpliSeq Library Kit 2.0* ,000 Ion Xpress Barcode Adaptors 1-16 Kit** 16BC ,000 NA *20% **1 * Ion AmpliSeq Library Kit **Ion Xpress Barcode Adaptors 1-16 Kit17-32 Kit Kit Kit Kit Kit Kit

5 Ion AmpliSeq Ion AmpliSeq Inherited Disease Panel 10, NIH Test Registry Ion AmpliSeq Sample ID Panel Ion AmpliSeq on AmpliSeq Sample ID Panel 1 L SNP 30 ng DNA 3 PCR 31 Ion 316 / 318 chip bp197 bp 3 DNA 30ng 10 ng x 3 12 * >85% ** >95% NA Ion AmpliSeq PCR 1 L SNP / * Ion AmpliSeq Sample ID Panel ,000 *20% ** * Ion AmpliSeq Inherited Disease ,000 Panel Ion AmpliSeq Library Kit 2.0* ,000 Ion Xpress Barcode Adaptors 1-16 Kit** 16BC ,000 * Ion AmpliSeq Library Kit **Ion Xpress Barcode Adaptors 1-16 Kit17-32 Kit Kit Kit Kit Kit Kit

6 Ion AmpliSeq Ion AmpliSeq Comprehensive Cancer Panel ABL1 AURKA BMPR1A CDK4 CTNNB1 EPHB4 FANCD2 FZR1 ABL2 AURKB BRAF CDK6 CYLD EPHB6 FANCF G6PD ACVR2A AURKC BRD3 CDK8 CYP2C19 ERBB2 FANCG GATA1 ADAMTS20 AXL BRIP1 CDKN2A CYP2D6 ERBB3 FAS GATA2 AFF1 BAI3 BTK CDKN2B DAXX ERBB4 FBXW7 GATA3 AFF3 BAP1 BUB1B CDKN2C DCC ERCC1 FGFR1 GDNF AKAP9 BCL10 CARD11 CEBPA DDB2 ERCC2 FGFR2 GNA11 AKT1 BCL11A CASC5 CHEK1 DDIT3 ERCC3 FGFR3 GNAQ AKT2 BCL11B CBL CHEK2 DDR2 ERCC4 FGFR4 GNAS AKT3 BCL2 CCND1 CIC DEK ERCC5 FH GPR124 ALK BCL2L1 CCND2 CKS1B DICER1 ERG FLCN GRM8 APC BCL2L2 CCNE1 CMPK1 DNMT3A ESR1 FLI1 GUCY1A2 AR BCL3 CD79A COL1A1 DPYD ETS1 FLT1 HCAR1 ARID1A BCL6 CD79B CRBN DST ETV1 FLT3 HIF1A ARID2 BCL9 CDC73 CREB1 EGFR ETV4 FLT4 HLF ARNT BCR CDH1 CREBBP EML4 EXT1 FN1 HNF1A ASXL1 BIRC2 CDH11 CRKL EP300 EXT2 FOXL2 HOOK3 ATF1 BIRC3 CDH2 CRTC1 EP400 EZH2 FOXO1 HRAS ATM BIRC5 CDH20 CSF1R EPHA3 FAM123B FOXO3 HSP90AA1 ATR BLM CDH5 CSMD3 EPHA7 FANCA FOXP1 HSP90AB1 ATRX BLNK CDK12 CTNNA1 EPHB1 FANCC FOXP4 ICK IDH1 KRAS MLH1 NFKB2 PIK3C2B RARA SOCS1 TOP1 IDH2 LAMP1 MLL NIN PIK3CA RB1 SOX11 TP53 IGF1R LCK MLL2 NKX2-1 PIK3CB RECQL4 SOX2 TPR IGF2 LIFR MLL3 NLRP1 PIK3CD REL SRC TRIM24 IGF2R LPHN3 MLLT10 NOTCH1 PIK3CG RET SSX1 TRIM33 IKBKB POT1 MMP2 NOTCH2 PIK3R1 RHOH STK11 TRIP11 IKBKE LPP MN1 NOTCH4 PIK3R2 RNASEL STK36 TRRAP IKZF1 LRP1B MPL NPM1 PIM1 RNF2 SUFU TSC1 IL2 LTF MRE11A NRAS PKHD1 RNF213 SYK TSC2 IL21R LTK MSH2 NSD1 PLAG1 ROS1 SYNE1 TSHR IL6ST MAF MSH6 NTRK1 PLCG1 RPS6KA2 TAF1 UBR5 IL7R MAFB MTOR NTRK3 PLEKHG5 RRM1 TAF1L UGT1A1 ING4 MAGEA1 MTR NUMA1 PML RUNX1 TAL1 USP9X IRF4 MAGI1 MTRR NUP214 PMS1 RUNX1T1 TBX22 VHL IRS2 MALT1 MUC1 NUP98 PMS2 SAMD9 TCF12 WAS ITGA10 MAML2 MUTYH PAK3 POU5F1 SBDS TCF3 WHSC1 ITGA9 MAP2K1 MYB PALB2 PPARG SDHA TCF7L1 WRN ITGB2 MAP2K2 MYC PARP1 PPP2R1A SDHB TCF7L2 WT1 ITGB3 MAP2K4 MYCL1 PAX3 PRDM1 SDHC TCL1A XPA JAK1 MAP3K7 MYCN PAX5 PRKAR1A SDHD TET1 XPC JAK2 MAPK1 MYD88 PAX7 PRKDC SEPT9 TET2 XPO1 JAK3 MAPK8 MYH11 PAX8 PSIP1 SETD2 TFE3 XRCC2 JUN MARK1 MYH9 PBRM1 PTCH1 SF3B1 TGFBR2 ZNF384 KAT6A MARK4 NBN PBX1 PTEN SGK1 TGM7 ZNF521 KAT6B MBD1 NCOA1 PDE4DIP PTGS2 SH2D1A THBS1 KDM5C MCL1 NCOA2 PDGFB PTPN11 SMAD2 TIMP3 KDM6A MDM2 NCOA4 PDGFRA PTPRD SMAD4 TLR4 KDR MDM4 NF1 PDGFRB PTPRT SMARCA4 TLX1 KEAP1 MEN1 NF2 PER1 RAD50 SMARCB1 TNFAIP3 KIT MET NFE2L2 PGAP3 RAF1 SMO TNFRSF14 KLF6 MITF NFKB1 PHOX2B RALGDS SMUG1 TNK2 Ion AmpliSeq Cancer Hotspot Panel v2 6

7 Ion AmpliSeq Ion AmpliSeq Inherited Disease Panel Symbol Disease Symbol Disease ABCA4 Retinitis Pigmentosa BMPR1A Juvenile Polyposis Syndrome ABCC9 Dilated Cardiomyopathy 1O BTD Biotinidase Deficiency ABCD1 X-Linked Adrenoleukodystrophy BTK Agammaglobulinemia, X-Linked, Type 1 ACADVL Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency CA4 Retinitis Pigmentosa ACTA2 Thoracic Aortic Aneurysms and Aortic Dissections CACNA1C Brugada Syndrome ACTC1 Familial Hypertrophic Cardiomyopathy CACNB2 Brugada Syndrome ACTN2 Dilated Cardiomyopathy 1AA CALR3 Familial Hypertrophic Cardiomyopathy ADA Severe Combined Immunodeficiency CAPN3 Limb-Girdle Muscular Dystrophy Type 2A - Calpainopathy AIPL1 Leber Congenital Amaurosis CASQ2 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) AIRE Autoimmune Polyendocrine Syndrome CAV3 Familial Hypertrophic Cardiomyopathy AKAP9 Long QT Syndrome, Autosomal Dominant CCDC39 Primary Ciliary Dyskinesia AKR1B1 Androgen Insensitivity Syndrome CCDC40 Primary Ciliary Dyskinesia ALPL Hypophosphatasia CDH23 Usher Syndrome Type 1 AMT Glycine Encephalopathy CEP290 Leber Congenital Amaurosis ANK2 Long/Short QT Syndrome, Autosomal Dominant CERKL Retinitis Pigmentosa APC APC-Associated Polyposis Conditions CFTR Cystic Fibrosis APP Early-Onset Familial Alzheimer Disease CHAT Congenital Myasthenic Syndromes APTX Ataxia with Oculomotor Apraxia Type 2 CHD7 Charge Syndrome ARL6 Retinitis Pigmentosa CHEK2 Li-Fraumeni Syndrome ARSA Arylsulfatase A Deficiency CHM Choroideremia ASL Argininosuccinate Lyase Deficiency CHRNA1 Congenital Myasthenic Syndromes ASPA Canavan CHRNB1 Congenital Myasthenic Syndromes ATL1 Spastic Paraplegia-3A CHRND Congenital Myasthenic Syndromes ATM Ataxia-Telangiectasia CHRNE Congenital Myasthenic Syndromes ATP2A2 Darier Disease CLCN1 Myotonia Congenita ATP7A Menkes/ATP7A-Related Copper Transport Disease CNGB1 Retinitis Pigmentosa ATP7B Wilson Disease COL11A1 Stickler Syndrome, AD ATXN1 Spinocerebellar Ataxia 1 COL11A2 Inherited Deafness ATXN2 Spinocerebellar Ataxia 2 COL1A1 Osteogenesis Imperfecta ATXN7 Spinocerebellar Ataxia 7 COL1A2 Osteogenesis Imperfecta BAG3 Dilated Cardiomyopathy 1HH COL2A1 Stickler Syndrome, AD BCKDHA Maple Syrup Urine Disease COL3A1 Ehlers-Danlos Syndrome BCKDHB Maple Syrup Urine Disease COL4A1 Thoracic Aortic Aneurysms and Aortic Dissections BEST1 Retinitis Pigmentosa COL4A5 Alport Syndrome COL5A1 Ehlers-Danlos Syndrome, Classic Type FOXL2 Blepharophimosis-Ptosis-Epicanthus Inversus COL5A2 Ehlers-Danlos Syndrome, Classic Type FRG1 Facioscapulohumeral Muscular Dystrophy COL7A1 Epidermolysis Bullosa Simplex FRMD7 FRMD7-Related Infantile Nystagmus COL9A1 Stickler Syndrome FSCN2 Retinitis Pigmentosa CRB1 Leber Congenital Amaurosis FXN Friedreich Ataxia CRX Retinitis Pigmentosa GAA Pompe Disease -GSD II CTDP1 Congenital Cataracts, Facial Dysmorphism, and Neuropathy GALT Galactosemia CTNS Cystinosis GATA4 Atrial Septal Defect CYP27A1 Cerebrotendinous Xanthomatosis GBA Gaucher Disease DBT Maple Syrup Urine Disease GBE1 Glycogen Storage Disease Type VI DCX Double Cortex Syndrome GCSH Glycine Encephalopathy DES Dilated Cardiomyopathy GDF5 Brachydactyly DHCR7 Smith-Lemli-Opitz Syndrome GJB2 Inherited Deafness, Top Genes DKC1 Dyskeratosis Congenita GJB3 Inherited Deafness, Top Genes DLD Maple Syrup Urine Disease GJB6 Inherited Deafness, Top Genes DMD Duchenne/Becker Muscular Dystrophy GLA Fabry Disease DNAH5 Primary Ciliary Dyskinesia GLDC Glycine Encephalopathy DNAH9 Primary Ciliary Dyskinesia GNE Inclusion Body Myopathy 2 DNAH11 Primary Ciliary Dyskinesia GNPTAB Mucolipidosis II DNAI1 Primary Ciliary Dyskinesia GPC3 Wilms Tumor, Classical DNAI2 Primary Ciliary Dyskinesia GPD1L Brugada Syndrome DNM2 Charcot-Marie-Tooth Disease Type 2B GPR143 Ocular Albinism, X-Linked DOK7 Congenital Myasthenic Syndromes GUCY2D Leber Congenital Amaurosis 7

8 Ion AmpliSeq Symbol Disease Symbol Disease DSC2 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy HBA2 Alpha-Thalassemia - Southeast Asia DSG2 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy HBB Sickle Cell Disease Beta-Thalassemia DSP Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy HCN4 Brugada Syndrome DYSF Dysferlinopathy HEXA Hexosaminidase A Deficiency ELN Supravalvular Aortic Stenosis HFE HFE-Associated Hereditary Hemochromatosis EMD Emery-Dreifuss Muscular Dystrophy, X-Linked HIBCH Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (HIBCH Deficiency) ENG Hereditary Hemorrhagic Telangiectasia HMBS Hydroxymethylbilane Synthase (HMBS) Deficiency EXT1 Exostoses, Multiple, Type 1 HR Alopecia Universalis Congenita (ALUNC) EYA1 Branchiootorenal Spectrum Disorders IDS Hunter Syndrome (MPSII) EYS Retinitis Pigmentosa IDUA Hurler Syndrome (MPSI) F8 Hemophilia A IKBKAP Familial Dysautonomia (HSAN III) F9 Hemophilia B IL2RG X-Linked SCIDS FANCA Fanconi Anemia IMPDH1 Leber Congenital Amaurosis FANCC Fanconi Anemia ITGB4 Epidermolysis Bullosa Simplex FANCF Fanconi Anemia JAG1 Alagille Syndrome FANCG Fanconi Anemia JUP Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy FBN1 Marfan Syndrome KCNE1 Long QT Syndrome, Autosomal Dominant FBXO7 Parkinson Disease KCNE2 Long QT Syndrome, Autosomal Dominant FGFR1 FGFR-Related Craniosynostosis Syndromes KCNE3 Brugada Syndrome FGFR3 Hypochondroplasia KCNH2 Long QT Syndrome, Autosomal Dominant FMO3 Trimethylaminuria KCNJ2 Short QT Syndrome KCNQ1 Long QT Syndrome, Autosomal Dominant NPC2 Niemann-Pick Disease Type C2 KCNQ4 Inherited Deafness NR2E3 Retinitis Pigmentosa KIAA0196 Spastic Paraplegia 8 NRAS Noonan Syndrome KLHL7 Retinitis Pigmentosa NSD1 Sotos Syndrome KRAS Noonan Syndrome NUDT19 Retinitis Pigmentosa KRT5 Epidermolysis Bullosa Simplex OCA2 Oculocutaneous Albinism Type 2 KRT14 Epidermolysis Bullosa Simplex OCRL Lowe Syndrome L1CAM Spastic Paraplegia Type 1 - L1 Syndrome OTC Ornithine Transcarbamylase Deficiency LAMB3 Epidermolysis Bullosa Simplex PABPN1 Oculopharyngeal Muscular Dystrophy LAMP2 Dilated Cardiomyopathy PAFAH1B1 Lissencephaly 1 LDB3 Dilated Cardiomyopathy PAH Phenylketonuria (PKU) LMNA Limb-Girdle Muscular Dystrophy, Type 1B PAX3 Waardenburg Syndrome, Type 1 LRAT Retinitis Pigmentosa PAX6 Aniridia LRRK2 Parkinson Disease PCDH15 Usher Syndrome Type 1 MAPRE2 Retinitis Pigmentosa PEX1 Zellweger Syndrome MAPT Parkinson-Dementia Syndrome PEX3 Peroxisome Biogenesis, Zellweger MC1R Oculocutaneous Albinism Type 2 PEX5 Neonatal Adrenoleucodystrophy MECP2 MECP2-Rett Syndrome PEX10 Peroxisome Biogenesis, Zellweger MED12 Fryns Syndrome PEX13 Peroxisome Biogenesis, Zellweger MEN1 Multiple Endocrine Neoplasia Type 1 PEX14 Peroxisome Biogenesis, Zellweger MERTK Retinitis Pigmentosa PEX19 Peroxisome Biogenesis, Zellweger MFN2 Charcot-Marie-Tooth Neuropathy Type 2A PEX26 Peroxisome Biogenesis, Zellweger MLH1 Turcot Syndrome PINK1 Parkinson Disease MMAA Methylmalonic Acidemia PKD1 Polycystic Kidney Disease, Autosomal Dominant MMAB Methylmalonic Acidemia PKD2 Polycystic Kidney Disease, Autosomal Recessive MMACHC Methylmalonic Acidemia PKHD1 Polycystic Kidney Disease, Autosomal Recessive MPZ Charcot-Marie-Tooth Neuropathy Type 1B PKP2 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy MSH2 Turcot Syndrome PLEC Epidermolysis Bullosa Simplex MTM1 X-Linked Myotubular Myopathy PLN Dilated Cardiomyopathy 1P MUT Methylmalonic Acidemia PLOD1 Ehlers-Danlos Syndrome, Kyphoscoliotic Form MYBPC3 Familial Hypertrophic Cardiomyopathy PMM2 Congenital Disorder of Glycosylation Type 1a MYH11 Thoracic Aortic Aneurysms and Aortic Dissections PMP22 Charcot-Marie-Tooth Neuropathy Type 1A MYH6 Familial Hypertrophic Cardiomyopathy POLG Alpers Syndrome MYH7 Familial Hypertrophic Cardiomyopathy PPT1 Ceroid Lipofuscinoses (Batten Disease) MYL2 Familial Hypertrophic Cardiomyopathy PRCD Retinitis Pigmentosa 8

9 Ion AmpliSeq Symbol Disease Symbol Disease MYL3 Familial Hypertrophic Cardiomyopathy PRKAG2 Familial Hypertrophic Cardiomyopathy MYLK Familial Hypertrophic Cardiomyopathy PROM1 Retinitis Pigmentosa MYO7A Usher Syndrome Type 1 PRPF8 Retinitis Pigmentosa MYOZ2 Familial Hypertrophic Cardiomyopathy PRPF31 Retinitis Pigmentosa NF1 Neurofibromatosis Type 1 PRPH2 Retinitis Pigmentosa NF2 Neurofibromatosis Type 2 PSEN1 Early-Onset Familial Alzheimer Disease NIPBL Cornelia de Lange Syndrome PSEN2 Early-Onset Familial Alzheimer Disease NKX2-5 Tetralogy of Fallot PTCH1 Holoprosencephaly-7 & Basal Cell Nevus Syndrome NPC1 Niemann-Pick Disease Type C1 PTPN11 Noonan Syndrome RAF1 Noonan Syndrome SLC26A4 Pendred Syndrome/Syndromic Deafness RAG1 Severe Combined Immunodeficiency SMAD3 Thoracic Aortic Aneurysms and Aortic Dissections RAG2 Severe Combined Immunodeficiency SMAD4 Juvenile Polyposis Syndrome RAI1 Smith-Magenis Syndrome SNCA Parkinson Disease RAPSN Congenital Myasthenic Syndromes SNRNP200 Retinitis Pigmentosa RB1 Retinoblastoma SNTA1 Long QT Syndrome, Autosomal Dominant RDH12 Leber Congenital Amaurosis SOD1 Amyotrophic Lateral Sclerosis (Lou Gehrig s Disease) RET Multiple Endocrine Neoplasia Type 2 SOS1 Noonan Syndrome RHO Retinitis Pigmentosa SOX9 Campomelic Dysplasia ROR2 Brachydactyly, Type B1 SPATA7 Retinitis Pigmentosa RP9 Retinitis Pigmentosa SPG7 Spastic Paraplegia 7 RPE65 Leber Congenital Amaurosis STARD3 Cardiomyopathy (Dilated) RPGR Retinitis Pigmentosa TAF1 X-Linked Dystonia-Parkinsonism RPGRIP1 Leber Congenital Amaurosis TAZ Cardiomyopathy (Dilated) RPL11 Diamond-Blackfan Anemia TBX5 Holt-Oram Syndrome RPL35A Diamond-Blackfan Anemia TCOF1 Treacher Collins Syndrome RPS6KA3 Coffin-Lowry Syndrome TGFBR1 Thoracic Aortic Aneurysms and Aortic Dissections RPS7 Familial Hypertrophic Cardiomyopathy TGFBR2 Thoracic Aortic Aneurysms and Aortic Dissections RPS10 Diamond-Blackfan Anemia TMEM43 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy RPS19 Diamond-Blackfan Anemia TNNC1 Dilated Cardiomyopathy RPS24 Diamond-Blackfan Anemia TNNI3 Dilated Cardiomyopathy RPS26 Diamond-Blackfan Anemia TNNT1 Nemaline Myopathy RS1 X-Linked Juvenile Retinoschisis TNNT2 Familial Hypertrophic Cardiomyopathy RSPH4A Primary Ciliary Dyskinesia TNXB Ehlers-Danlos Syndrome, Hypermobility Type RSPH9 Primary Ciliary Dyskinesia TOPORS Retinitis Pigmentosa RYR1 Malignant Hyperthermia Susceptibility TP53 Li-Fraumeni Syndrome RYR2 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy TPM1 Familial Hypertrophic Cardiomyopathy SALL4 Duane Syndrome - Autosomal Dominant TSC1 Tuberous Sclerosis Complex SCN1B Brugada Syndrome TSC2 Tuberous Sclerosis Complex SCN3B Brugada Syndrome TTPA Ataxia with Vitamin E Deficiency SCN4B Long QT Syndrome, Autosomal Dominant TTR Familial Transthyretin Amyloidosis SCN5A Brugada Syndrome TULP1 Retinitis Pigmentosa SCN9A SCN9A-Related Inherited Erythromelalgia TWIST1 Saethre-Chotzen Syndrome SEMA4A Retinitis Pigmentosa TXNDC3 Primary Ciliary Dyskinesia SERPINA1 Alpha-1-Antitrypsin Deficiency TYR Oculocutaneous Albinism Type 1 SERPING1 Angioedema, Hereditary, Types I and II USH1C Usher Syndrome Type 1 SGCD Dilated Cardiomyopathy USH2A Usher Syndrome Type 2 SH3BP2 Cherubism VCL Familial Hypertrophic Cardiomyopathy SIX1 Branchiootorenal Spectrum Disorders VHL von Hippel-Lindau Syndrome SIX5 Branchiootorenal Spectrum Disorders WAS Wiskott-Aldrich Syndrome SLC25A4 Familial Hypertrophic Cardiomyopathy WRN Werner Syndrome SLC25A13 Citrin Deficiency WT1 Wilms Tumor, Classical 9

10 Ion AmpliSeq Ion AmpliSeq Ion AmpliSeq Custom Panel Ion AmpliSeq Cancer Hotsopt Panel v2 Comprehensive Cancer Panel Inherited Disease Panel Ion AmpliSeq Designer ,144 6,14410kb Ion AmpliSeq kb 68 kb 116 kb 171 kb 249 kb ,819 2, % 98.7% 95.2% 96.7% 96.6% 93.7% 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% DNA1_Panel1 DNA2_Panel1 DNA3_Panel1 DNA4_Panel2 DNA5_Panel3 DNA6_Panel4 10x coverage 20x coverage 30x coverage 50x coverage , or 200bp , well 1,500 6, Ion AmpliSeq Designer 3.5 Ion AmpliSeq Custom Panels 7 2~4 0.5 Ion AmpliSeq Library Kit Ion OneTouch Ion PGM Torrent * Ion AmpliSeq Custom Panel 750 3,000 Ion AmpliSeq Library Kit 2.0* ,000 Ion Xpress Barcode Adaptors 1-16 Kit** 16BC ,000 * Ion AmpliSeq Library Kit **Ion Xpress Barcode Adaptors 1-16 Kit17-32 Kit Kit Kit Kit Kit Kit

11 Ion AmpliSeq Ion AmpliSeq Ion AmpliSeq Ion AmpliSeq Community Panel 1 DNA 10ng Ion AmpliSeq Colon and Lung 1 67,500 Cancer Panel 750 Ion AmpliSeq TP53 Panel 2 18, Ion AmpliSeq BRCA1 and BRCA ,250 Panel 3000 Ion AmpliSeq CFTR Panel 2 76, Ion AmpliSeq Human Identity Panel ,000 6 Ion AmpliSeq Exome Kit PCR 60 6 Ion Proton 212 Ion Proton 12 PCR 60 6 DNA ng I Rapid Exome Capture Kit * A Exome Kit ** Ion AmpliSeq Exome Kit HOURS: Hands-on time Hands-off time *I Rapid Capture Exome Data Sheet **A Exome Data Sheet DNA CCDS97 ~294,000/ ng DNA Ion PI v211 2 Ion AmpliSeq Exome RDY Kit 4 2* 4 2/ , Ion AmpliSeq Exome RDY Kit 1 8* 1 8/ ,000 * Ion AmpliSeq Library Kit Ion PI Chip Kit v2 4pack 11

12 Ion AmpliSeq Ion AmpliSeq Ion Xpress Barcode Ion AmpliSeq Ion AmpliSeq Library Kit 2.0 Ion AmpliSeq AmpliSeq Ion AmpliSeq 1 1 Ion AmpliSeq LV 96 Ion AmpliSeq Library Kit ,000 Ion AmpliSeq Library Kit LV ,000 Ion AmpliSeq Library Kit LV ,304, Ion Xpress Barcode Adaptor Kit Ion Torrent DNA Ion Xpress Barcode Adapters 1-16 Kit 16BC , Ion Xpress Barcode Adapters Kit 16BC , Ion Xpress Barcode Adapters Kit 16BC , Ion Xpress Barcode Adapters Kit 16BC , Ion Xpress Barcode Adapters Kit 16BC , Ion Xpress Barcode Adapters Kit 16BC ,000 Ion Library Equalizer 3 Ion Library Equalizer Kit 3 PCR Ion Torrent DNA Ion AmpliSeq Library Kit 2.0 Ion Plus Fragment Library Kit Ion Xpress Plus Fragment Library Kit Ion Library Equalizer Kit ,000 12

13 Ion AmpliSeq Ion AmpliSeq Custom Panel Ion AmpliSeq Designer Life TechnologiesID Ion AmpliSeq Designer Sign in Life Technologies ID Sign in Start a new design Save Submit targets Request Quote 13

14 Ion AmpliSeq / Ion AmpliSeq Life TechnologiesID Ion AmpliSeq Ion AmpliSeq in AmpliSeq Designer Register new account Life Technologies Life Technologies ID JPOrderAdminCS appliedbiosystems.com

15 Ion Reporter Ion Torrent Ion Reporter Software 1 3CNV 16SIon Torrent Ion Reporter Software ID Sign in Launch analysis Next Next Next Launch Analysis 15

16 Ion TargetSeq DNA DNA DNA- - DNA ngdna Ion Proton System Exome workflow Ion TargetSeq Ion Chef Ion OneTouch 2.0 Duo Ion Proton Proton Torrent Ion Reporter 16

17 Ion TargetSeq Ion Torrent Ion TargetSeq Human Exome Kit Ion TargetSeq Human Exome KitIon Torrent DNARNA 39.5MbCCDs ng DNA 1> Mb >99.4%CCDs >97% COSMIC V56 <100 bp 44,100 mirna 39.5Mb 3 UTR ncrna bp76bp >200 / 3' UTR RNA 1,472 mirna, trna, snorna, lncrna Ion TargetSeq Custom Enrichment Kit Ion TargetSeq Custom Enrichment Kit100kb 10Mb Ion Torrent DNA RNA ng DNA 8-12 web (PO#) A (PO#) Coordinates file B 100kb 10Mb bp76bp 8 12 A B C 8~12 Yes No bp x10 6 DNA 52.7 Mb 46.2 Mb Ion TargetSeq Human Exome Kit C Life Technologies US , , , , , , Ion TargetSeq Custom Enrichment 96 A ,304,000 Kit kb Ion TargetSeq Custom Enrichment 96 A ,264,000 Kit Mb Ion TargetSeq Custom Enrichment 96 A ,608,000 Kit 2-10 M Ion TargetSeq Multi Blocker Kit 2-10 M , Ion TargetSeq Human Exome Kit Ion TargetSeq Human Exome Kit ,000 Ion TargetSeq Human Exome Kit ,000 Ion TargetSeq Human Exome Kit ,152,000 17

18 TaqMan TaqMan SNP 2TaqMan TaqMan 5' VIC dye FAM dye3' Q PCR DNA VIC dye FAM dye TaqMan SNP Genotyping Assay 100 DNA TaqMan SNP Allele1TaqMan VIC Allele2TaqMan FAM VIC FAM Allele1Allele2 Allele1 2 18

19 TaqMan SNP TaqMan Pre-Designed SNP Genotyping Assays TaqMan SNP Genotyping AssaysSNP SNP 450 1SNP ID SNP csnp7 SNP16 SNP350 SNP2600 Human * TaqMan Pre-Designed SNP Genotyping Assays, Human, non-inventried Small scale 300 1, ,000 TaqMan Pre-Designed SNP Genotyping Assays, Human, non-inventried Medium scale TaqMan Pre-Designed SNP Genotyping Assays, Human, non-inventried Large scale 1,000 5,000 2,400 12, , ,900 Custom TaqMan SNP Genotyping Assays Custom TaqMan SNP Genotyping Assays SNPSNP SNP SNP SNP6 MNP SNP Human * Custom TaqMan SNP Genotyping ,600 Assays, S-scale, Human 1,500 Custom TaqMan SNP Genotyping 1, ,100 Assays, M-scale, Human 5,000 Custom TaqMan SNP Genotyping Assays, L-scale, Human 2,400 12, ,200 *25µL5µL non-human * Custom TaqMan SNP Genotyping ,600 Assays, S-scale, non-human 1,500 Custom TaqMan SNP Genotyping 1, ,100 Assays, M-scale, non-human 5,000 Custom TaqMan SNP Genotyping Assays, L-scale, non-human 2,400 12, ,200 *25µL5µL *25µL5µL non-human * TaqMan Pre-Designed SNP Genotyping Assays Non-Human non-inventoried Small scale 300 1, ,000 TaqMan Pre-Designed SNP Genotyping Assays Non-Human non-inventoried Medium scale TaqMan Pre-Designed SNP Genotyping Assays Non-Human non-inventoried Large scale 1,000 5,000 2,400 12, , ,900 TaqMan Drug Metabolism Genotyping Assays 220 2,000 TaqMan Drug Metabolism Genotyping ,600 Assays 750 *25µL5µL *25µL5µL 19

20 TaqMan SNP SNP TaqMan Genotyping Master Mix TaqMan Genotyping Master MixPCR GC AT TaqMan Universal Master Mix GC AT 72 Fast SNP TaqMan GTXpress Master Mix TaqMan GTXpress Master Mix Fast PCRSNP SNP TaqMan PCR50PCR 50 Tracking Dye PCR TaqMan Genotyping Master Mix GC-rich TaqMan Genotyping Master Mix94gDNA TaqMan SNP Assay C _10 PCR GeneAmp PCR System HT PCR GC-richCatjespin D rs12214 dbsnp TaqMan Genotyping Master Mix * TaqMan Genotyping Master Mix, ,000 1mL 400 TaqMan Genotyping Master Mix, ,000 10mL 4,000 TaqMan Genotyping Master Mix, 1, ,000 10mL 2 8,000 TaqMan Genotyping Master Mix, 50mL 4,000 20, ,000 TaqMan Genotyping Master Mix, 50mL 2 TaqMan Genotyping Master Mix TaqMan Genotyping Master Mix *25µL5µL 8,000 40, , TaqMan GTXpress Master Mix * TaqMan GTXpress Master Mix, 1mL , TaqMan GTXpress Master Mix, 10mL ,000 2,000 4,000 TaqMan GTXpress Master Mix, 50mL 4, ,000 10,000 20,000 TaqMan GTXpress Master Mix, 100mL 2 50mL 8,000 20,000 40, ,000 *PCR 96 Standard Block,0.2µL25µL 96 Fast Block,0.1µL10µL 384 5µL 20

21 TaqMan SNP TaqMan Sample-to-SNP Kit TaqMan Sample-to-SNP Kit DNA TaqMan SNP 1 DNA Fast PCRTaqMan GTXpress Master Mix DNA5PCR50 SNP1 / FTA / / / Buccal swab / Rat Mouse tail / Leaf punch / / FFPE DNA953 DNA PCR Fast PCR TaqMan GTXpress Master Mix PCR50 TaqMan Sample-to-SNP Kit A. Buccal swab, B. Mouse tail, C. Corn leaf, D. FFPE TaqMan Sample-to-SNP Kit DNA ,000 5mL sample prep, 1mL PCR PCR 80 TaqMan Sample-to-SNP Kit 20mL sample prep, 10mL PCR TaqMan Sample-to-SNP Kit 20mL sample prep, 50mL PCR TaqMan Sample-to-SNP Kit 200mL sample prep, 10mL PCR * PCR25µL DNA 400 PCR 800 DNA 400 PCR4,000 DNA4,000 PCR , , ,000 TaqMan Sample-to-SNP Kit SNP SNP / 21

22 TaqMan TaqMan Mutation Detection Assays TaqMan Mutation Detection Assays Competitive Allele-Specific TaqMan PCR castpcr MGB TaqMan Mutation Detection Assay Mutant Allele Assay EGFR_exlqdels_mu* 19 MGB ASP = ASB = MGB LST = TaqMan LSP = EGFR exon19 deletion Reference Assay Mutant Assay Wild type Assay Mutant Assay EGFR Reference Assay EGFR Exon19 Deletion Assay Wild type Allele Assay MGB ASP = ASB = MGB LST = TaqMan LSP = Mutation Detector TaqMan Mutation Detection Assay Gene Reference Assay FP = RP = LST = TaqMan ASP: LST: TaqMan LSP: MGB: ASB: MGB FP: RP: * TaqMan Mutation Detection Assays ** 150µL ,800 TaqMan EGFR Exon 19 Deletions Assay 1 EGFR 19 1 ** 150µL ,800 TaqMan Mutation Detection Reference Assays 46 ** 150µL ,000 TaqMan Mutation Detection IPC Reagent Kit 1 kit ,300 *20µL ** TaqMan Mutation Detection Assays 22

23 TaqMan TaqMan Copy Number Assays Copy Number Variations, CNVs CNVs CNVs TaqMan Copy Number Assays CNVs 160 TaqMan CNVs TaqMan Copy Number AssaysTaqMan Copy Number Reference Assays PCR 3 4 PCR DNA Copy Number 4 * TaqMan Copy Number Assays, 360 assays ,000 Small 720 assays TaqMan Copy Number Assays, 750 assays ,900 Medium 1,500 assays TaqMan Copy Number Assays, Large 2,900 assays 5,800 assays ,600 *20µL9610µL384 Custom TaqMan Copy Number Assays Custom TaqMan Copy Number Assays TaqMan Copy Number Assays CNVs GeneAssist Copy Number Assay Tool CNVs * Custom TaqMan Copy Number Assays, 360 assays ,000 Small 720 assays Custom TaqMan Copy Number Assays, 750 assays ,000 Medium 1,500 assays Custom TaqMan Copy Number Assays, Large 2,900 assays 5,800 assays ,800 *20µL9610µL384 CopyCaller TaqMan Copy Number Assays CopyCallerTM TaqMan Copy Number Reference Assays TaqMan Copy Number Reference AssaysTaqMan Copy Number AssaysCustom TaqMan Copy Number Assays RNase PRibonuclease P RNA component H1 H1RNA gene RPPH1 on chromosome 14, cytoband 14q11.2TERT RNase P telomerase reverse transriptase TERT gene located on chromosome 5, cytoband 5p15.33 Human * TaqMan Copy Number Reference 750 assays ,200 Assay, RNase P 1,500 assays 3,000 assays 6,000 assays ,500 TaqMan Copy Number Reference Assay, TERT Mouse 750 assays 1,500 assays 3,000 assays 6,000 assays , ,500 * TaqMan Copy Number Reference 750 assays ,200 Assay, TFRC 1,500 assays 3,000 assays 6,000 assays ,500 TaqMan Copy Number Reference Assay, TERT 750 assays 1,500 assays 3,000 assays 6,000 assays *20µL9610µL , ,500 Custom Plus TaqMan Copy Number Assays Custom Plus TaqMan Copy Number Assays Custom TaqMan Copy Number Assays SNPTaqMan TaqMan Copy Number Assays * Custom Plus TaqMan Copy Number 360assays ,000 Assays, Small 720assays Custom Plus TaqMan Copy Number 750assays ,000 Assays, Medium 1,500assays Custom Plus TaqMan Copy Number Assays, Large 2,900assays 5,800assays ,800 *20µL96 10µL384 23

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