HALOPLEX DISEASE RESEARCH PANELS Premium Performance with Content You Can Trust

NGS TARGET ENRICHMENT HALOPLEX DISEASE RESEARCH PANELS Premium Performance with Content You Can Trust

The ability to detect sequence level variations through next generation Benefits sequencing in a fast, cost effective application has revolutionized the field of genetics. In order to harness the power of next generation sequencing for specific Confidence in Genomic Content disease states, it is critical to target these specific genomic regions. Developed • Comprehensive content tailored to in conjunction with clinical research industry leaders, Agilent Technologies offers specific disease research HaloPlex next generation sequencing target enrichment panels for researching specific genetic disorders. • Developed in conjunction with top clinical research leaders

From Sample to Result in Less than 2 Days Ease of Use From Sample to Analysis 1 Order HaloPlex kit • Simple, automatable protocol with Ready to Order or Made to Order no library preparation Cancer Arrhythmia Cardiomyopathy Connective Tissue Disorder • SureCall software for intuitive Noonan Syndrome variant analysis and report formats ICCG X Chromosome Available on Illumina MiSeq Results You Can Trust and Ion PGM • Multiple amplicon coverage of targets providing better coverage, 2 less PCR artifacts and more Prepare Samples and Sequence accurate mutation calls • Premium performance including high sensitivity, speciﬁcity, and mutation detection 3 Analyze data, print/export results SureCall

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HaloPlex Cancer HaloPlex Cancer Gene List HaloPlex Cancer is a comprehensive next Targeting solid tumors, hematological cancer and actionable mutations generation sequencing target enrichment ABL1 ERBB2 HRAS MET SMAD4 panel designed specifically for genetic AKT1 ERBB4 IDH1 NOTCH1 SMO anomalies in known cancer hotspots. This ALK FANCA IDH2 NPM1 SRC NGS application targets a set of 47 genes AR FANCC JAK2 NRAS STK11 found in previous research to be associated ATM FANCF JAK3 PDGFRA TP53 with a broad range of cancer types as well as with published drug targets. BRAF FANCG KIT PIK3CA VHL The COSMIC database was the primary CDKN2A FGFR1 KRAS PIK3R1 WT1 reference in the design process. CSF1R FGFR2 MAP2K1 PTEN HaloPlex Cancer is uniquely suited for CTNNB1 FGFR3 MAP2K2 RET high performance with cancer research EGFR FLT3 MAP2K4 RUNX1 samples, which are commonly preserved as formalin fixed and paraffin embedded (FFPE). This FFPE process often results Premium Target Enrichment Performance in highly fragmented DNA, resulting in 100.0% HaloPlex Cancer insufficient sequencing target coverage. 90.0% FFPE also commonly produces small 80.0% HaloPlex Cardiomyopathy changes in single bases, cytosine to 70.0% 60.0% Results from Illumina MiSeq runs; thymine, in DNA sequences. Unlike 50.0% Uniformity calculated as bases competitive technologies, HaloPlex covers 40.0% each base with several amplicons, and 30.0% covered at 10% of mean coverage smaller fragments function as a backup for 20.0% longer fragments that may fail. This allows 10.0% for high sequencing target coverage even 0.0%

in highly degraded FFPE samples. Design Cov at 1X Speciﬁcity Uniformity Cov at 20X Covered by Covered

HaloPlex Cardiomyopathy HaloPlex Cardiomyopathy Gene List HaloPlex Cardiomyopathy is a next TTR ACTC1 DES RBM20 generation sequencing target enrichment MYL2 TNNI3 LMNA TGFB3 panel designed speciﬁcally for inherited forms of cardiomyopathy. Following MYL3 TPM1 SGCD DSP a careful review of cardiomyopathy MYOZ2 TTN VCL PKP2 publications as well as information NEXN ACTN2 LDB3 DSG2 available from GeneReviews, an NIH MYH6 CSRP3 ABCC9 DSC2 online resource, 34 genes known MYH7 PLN SCN5A TMEM43 to be associated with hypertrophic MYBPC3 TNNC1 TAZ JUP cardiomyopathy, dilated cardiomyopathy, TNNT2 TCAP and arrythmogenic right ventricular cardiomyopathy have been included. MADE TO ORDER PANELS

HaloPlex Arrhythmia HaloPlex Connective HaloPlex ICCG

Targeting genomic regions known to be Tissue Disorder ICCG, International Collaboration for associated with four inherited arrhythmia- The HaloPlex Connective Tissue Disorder Clinical Genomics, is the organization related heart disorders, HaloPlex Arrhythmia focuses on inherited forms of connective formerly named ISCA, International is a next generation sequencing target tissue disorders, specifically targeting Standards for Cytogenomic Arrays. In the enrichment panel. Included are 20 genes genetic variations associated with Marfan HaloPlex ICCG gene panel, 180 genes as known to correlate with long QT syndrome, syndrome, Ehlers-Danlos syndrome, defined by ICCG have been incorporated short QT syndrome, Brugada syndrome, and Loeys-Dietz syndrome, thoracic aortic into a novel next generation sequencing catecholaminergic polymorphic ventricular aneurysm and dissection (TAAD), Stickler application, following the associated ICCG tachycardia, developed from information syndrome, Osteogenesis imperfecta and recommendations for design and resolution. gathered after a thorough review of other related disorders. publications for arrhythmia and from GeneReviews, an NIH resource. The genes associated with different types of arrhythmia HaloPlex Connective Tissue HaloPlex X Chromosome are overlapping in some cases, and using Disorder Gene List HaloPlex Arrhythmia, a comprehensive AMPD1 COL6A2 TCAP A wide variety of genetic disorders have arrhythmia profile can be assembled for been shown to be correlated to changes LMNA DES SGCB clinical research samples. in the X chromosome. The HaloPlex SEPN1 DYSF TPM2 X Chromosome panel is designed to TPM3 COL6A3 FKTN HaloPlex Arrhythmia Gene List interrogate these particular genetic changes ACTA1 EMD POMT1 on the X chromosome in a new next KCNQ1 CAV3 SCN1B POMGNT1 DMD TRIM32 generation sequencing kit. Together with KCNH2 SCN4B KCNE3 ANO5 FHL1 FKRP SureCall analysis software, laboratories KCNJ2 AKAP9 SCN3B PYGM ITGA7 TNNT1 are now able to create a comprehensive ANK2 SNTA1 RYR2 TNNI2 ISPD MYOT X chromosome mutation profile for clinical KCNE1 SCN5A CASQ2 CAPN3 SGCE SGCD research samples in one efficient, cost KCNE2 GPD1L CAV3 LAMA2 SIL1 effective application. CACNA1C CACNB2 CHKB POMT2 PLEC LARGE SGCA SGCG COL6A1 HaloPlex Noonan Syndrome HaloPlex Noonan Syndrome is a next generation sequencing panel designed Premium Target Enrichment Performance using information from published literature 100.0% and the NIH resource GeneReviews. 90.0% HaloPlex Arrhythmia This panel is designed to detect genetic 80.0% HaloPlex Noonan mutations known to be associated with 70.0% Syndrome 60.0% Noonan syndrome and related disorders HaloPlex Connective such as LEOPARD, cardio-facio-cutaneous 50.0% Tissue Disorder 40.0% syndrome, and Costello syndromes. HaloPlex ICCG 30.0%

20.0% HaloPlex X Chromosome HaloPlex Noonan Syndrome 10.0% Gene List 0.0% Results from Illumina MiSeq runs; BRAF MAP2K2 RAF1

Design Uniformity calculated as bases Cov at 1X

CBL NRAS SHOC2 Speciﬁcity Uniformity Cov at 20X

Covered by covered at 10% of mean coverage HRAS PTPN11 SOS1 MAP2K1 KRAS NF1 SPRED1 HALOPLEX DISEASE RESEARCH PANELS

Add SureCall Software Suppress notes Change Link out to reporting of categorization external databases SureCall addresses the critical need of mutations clinical researchers. The free-of-charge software incorporates the most widely Mutation accepted open source algorithms. table • Easy-to-use and faster time-to-results • Streamlined workﬂow for analysis • Reduce the need for complex bioinformatics

Genome viewer

Variants from Regions and amplicons Allele fraction + genotype VCF from BED 80 bp around variant, Coverage from BAM color-coded by category SureCall display showing mutation found for sample sequenced using the HaloPlex Connective Tissue Disorder Panel. On the left, aligner view highlighting mutation; on the right, ﬁnal report experted from software.

Catalog, Ready to Order Panels Pre-Designed, Made-to-Order Panels

Panel PN Reactions Panel Design ID (ILM) Design ID (ION) Ordering

G9903A (ILM), 16 ICCG 00100-1358263628 00100-1360592497 G9904A (ION) Cancer Connective Tissue Disorder 00100-1358243605 00100-1360592472 Order each Design ID using G9903B (ILM), 96 a Custom PN, through G9904B (ION) X-Chromosome 00100-1358242818 N/A SureDesign www.agilent.com/ G9908A (ILM), 16 Arrhythmia 00100-1358263563 00100-1360592417 genomics/suredesign G9909A (ION) Cardiomyopathy Noonan Syndrome 00100-1358243073 00100-1360592460 G9908B (ILM), 96 G9909B (ION)

References Request more information or buy online: www.agilent.com/genomics/ngs 1. ICCG website, https://www.iccg.org/ Find an Agilent customer center in your country: www.genomics.agilent.com/contactUs.jsp U.S. and Canada: 1–800–227–9770 | [email protected]

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