21 Days from Sample to Statement
Product catalogue 2014 21 Days from Sample to Statement Clinical genetic diagnostics and customized next-generation sequencing services Address Blueprint Genetics Tukholmankatu 8 Biomedicum 2U 00290 Helsinki Finland Contact our Sales: Dr. Tero-Pekka Alastalo Dr. Juha Koskenvuo sales@blueprintgenetics.com Contact our Support: support@blueprintgenetics.com +358 40 2511 372 3 Contents 5 5 6 7 8 9 11 12 13 14 16 17 19 20 21 22 23 25 27 28 29 30 Introduction What Our Service Includes Pan Cardiomyopathy Panel Core Cardiomyopathy Panel Heart Panel Noonan Syndrome Panel Arrhythmia Panel Brugada Panel CPVT Panel LQTS Panel SQTS Panel Marfan Panel Aorta Panel PAH Panel EDMD Panel Nephrotic Syndrome Panel Hyperlipidemia Panel Single Gene Tests Additional Services Nucleus™ Clinical Statement Technology and Performance 31 Effective bioinformatics pipeline 33 How To Order 34 Pricing 5 Introduction Blueprint Genetics (BpG) is an academic What Our Service Includes spin-off company consisting of cardiologists, geneticists, bioinformaticians and DNA biolo- ▪▪ OS-Seq™ NGS panel designed to cover majority of genetics associated with a gists. We utilize a unique targeted sequencing phenotype technology, OS-Seq™, originally developed at Stanford University by one of our team mem- ▪▪ Sequencing of all coding exons, exon-intron boundaries and other regions with reported bers and published in Nature Biotechnology pathogenic variants in 2011. BpG is the first company to develop ▪▪ Variant filtering using over 10,000 poputhe OS-Seq™ prototype into an industrilation-matched reference genomes and al-scale high-throughput diagnostic tool. exomes ▪▪ BpG Bioinformatics Pipeline utilises a proIn early June 2013, BpG launched the most prietary and the most up-to-date mutation comprehensive diagnostic tests for hereditary database cardiovascular diseases in the market. Our mission is to provide comprehensive and cost ▪▪ Confirmation of clinically relevant variants using Sanger sequencing effective next-generation sequencing (NGS) -based genetic tests for clinicians worldwide. ▪▪ Clinical statement prepared by our team of geneticists and clinicians Our innovations make it possible to achieve state-of-the-art analysis and interpretation in ▪▪ 21 turn-around-time from sample to statement 21 days from sample arrival. ▪▪ BpG laboratory is built to comply with the international standards, ISO 17025 and ISO 15189 ▪▪ BpG is currently applying for the EMQN certificate and the CLIA certificate for US entry 6 Pan Cardiomyopathy Panel For Syndromic and Isolated Cardiomyopathies BpG Pan Cardiomyopathy Panel is designed for diagnostics of classical non-syndromic cardiomyopathies as well as a wide variety of syndromes where cardiomyopathy can be present. This panel is a powerful tool in differential diagnostics when the patient with cardiomyopathy has other organ manifestations. In addition, BpG recommends the Pan Cardiomyopathy Panel for pediatric cardiomyopathy patients. Different forms of isolated cardiomyopathies covered by the test: ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ Examples of syndromes covered by the test: ▪▪ Fabry disease ▪▪ Hereditary hemochromatosis ▪▪ TTR amyloidosis ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ Price: 1500 € TAT: 21 days HCM DCM ARVC RCM LVNC Glycogen storage disease (many types) Noonan syndrome Costello syndrome Leopard syndrome Neuromuscular diseases (EDMD, DMD, BDM) And many more Genes covered: 103 genes ABCC9 ACADVL ACTC1 ACTN2 AGL ANKRD1 ATP5E BAG3 BRAF CALR3 CASQ2 CAV3 CBL COA5 CRYAB CSRP3 CTF1 CTNNA3 DES DMD DMPK DNAJC19 DNM1L DOLK DSC2 DSG2 DSP DTNA EMD EYA4 FHL1 FHL2 FKTN FOXRED1 FXN GAA GATAD1 GLA GLB1 GUSB HFE HRAS ILK JPH2 JUP KRAS LAMA4 LAMP2 LDB3 LMNA MAP2K1 MAP2K2 MIB1 MRPL3 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NRAS PDLIM3 PKP2 PLN PRKAG2 PSEN1 PSEN2 PTPN11 RAF1 RBM20 RYR2 SCN5A SCO2 SDHA SGCD SHOC2 SLC25A3 SOS1 SPRED1 SYNE1 SYNE2 TAZ TCAP TGFB3 TMEM43 TMEM70 TMPO TNNC1 TNNI3 TNNT2 TPM1 TRIM63 TSFM TTN TTR TXNRD2 VCL XK 7 Core Cardiomyopathy Panel For Isolated Cardiomyopathies BpG Core Cardiomyopathy Panel is designed for diagnostics of classical non-syndromic cardiomyopathies. In addition it covers some syndromes that may manifest with isolated cardiomyopathy. The Core Cardiomyopathy Panel is a powerful genetic diagnostic tool for adult-onset cardiomyopathy. Different forms of isolated cardiomyopathies covered by the test: ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ HCM DCM ARVC RCM LVNC Examples of syndromes covered by the test: ▪▪ Fabry disease ▪▪ PRKAG2-related HCM (glycogen storage cardiomyopathy with WPW) ▪▪ Hereditary hemochromatosis ▪▪ TTR amyloidosis Price: 1400 € TAT: 21 days Genes covered: 72 genes ABCC9 ACTC1 ACTN2 ANKRD1 BAG3 CALR3 CAV3 CRYAB CSRP3 CTF1 CTNNA3 DES DMD DNAJC19 DNM1L DSC2 DSG2 DSP DTNA EMD EYA4 FHL1 FHL2 FKTN FXN GATAD1 GLA HFE ILK JPH2 JUP LAMA4 LAMP2 LDB3 LMNA MIB1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN PDLIM3 PKP2 PLN PRKAG2 PSEN1 PSEN2 RBM20 RYR2 SCN5A SDHA SGCD TAZ TCAP TGFB3 TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TRIM63 TTN TTR TXNRD2 VCL 8 Heart Panel For Cardiomyopathies and Channelopathies BpG Heart Panel is a comprehensive diagnostic test covering genetics of both hereditary cardiomyopathies and channelopathies. Differential diagnostics between ion channel disease and cardiomyopathies can be occasionally challenging as severe ventricular arrhythmias can manifest in cardiomyopathy patients with subclinical or no findings of cardiomyopathy. BpG Heart Panel is an efficient diagnostics tool e.g. in following cases: ▪▪ Aborted cardiac death with no hint of specific cause ▪▪ Patient’s phenotype and family history show features of both cardiomyopathies and channelopathies Covered phenotypes: ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ HCM DCM ARVC RCM LVNC LQTS SQTS CPVT Brugada Syndrome Idiopathic VF SIDS Price: 1900 € TAT: 21 days Genes covered: 133 genes Heart panel combines the BpG Pan Cardiomyopathy and Arrhythmia Panels. 9 Noonan Syndrome Panel For Noonan or Noonan-like Syndromes BpG Noonan Syndrome Panel is an efficient and rapid diagnostic tool for rasopathies, such as Noonan (NS) or Noonan-like syndromes (NLS). Noonan syndrome is one of the most common human syndromes with estimated prevalence of 1 in 1000 to 1 in 2500 live births. It is clinically and genetically heterogeneous condition characterized by cardiovascular abnormalities, distinctive facial features, chest deformity, short stature, and other comorbidities. Differential diagnostics is challenging in rasopathies. Molecular diagnosis forms the basis for disease specific follow-up scheme and enables evidence-based prognostics. Price: 1200 € TAT: 21 days Genes covered: 12 genes BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11 RAF1 SHOC2 SOS1 SPRED1 BpG Noonan Syndrome Panel covers: ▪▪ Noonan Syndrome ▪▪ Noonan syndrome-like disorder with loose anagen hair (NSLH) ▪▪ Costello syndrome ▪▪ LEOPARD ▪▪ Cardiofaciocutaneous syndrome (CFC) 11 Arrhythmia Panel Cardiac Channelopathies and ARVC BpG Arrhythmia Panel is one of the most efficient diagnostic tests for severe hereditary arrhythmia disorders. The panel allows efficient differential diagnostics as it includes majority of reported ventricular arrhythmia-associated genes. In contrast to most available arrhythmia tests in the market, BpG’s test covers also arrhythmogenic right ventricle cardiomyopathy (ARVC). Clinical presentation in ARVC may be comparable to channelopathy and therefore BpG added ARVC genetics to the Arrhythmia Panel. This panel is a powerful diagnostic solution whenever other clinical assessments have failed to reliably narrow the exact diagnosis for severe arrhythmia episode or syncope. BpG Arrhythmia Panel covers the following phenotypes: ▪▪ ▪▪ ▪▪ ▪▪ Long QT syndromes (LQTS) Short QT syndromes (SQTS) Brugada syndrome (BrS) Catecholaminergic polymorphic ventricle tachycardia (CPVT) ▪▪ Idiopathic ventricular fibrillation (iVF) ▪▪ Arrhythmogenic right ventricle cardiomyopathy (ARVC) Price: 1600 € TAT: 21 days Genes covered: 47 genes AKAP9 ANK2 CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CASQ2 CAV3 CTNNA3 DES DPP6 DSC2 DSG2 DSP GPD1L HCN4 JUP KCND3 KCNE1 KCNE1L KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 LDB3 LMNA MYH6 NOS1AP PKP2 PLN RANGRF RYR2 SCN1B SCN2B SCN3B SCN4B SCN5A SLMAP SNTA1 TGFB3 TMEM43 TRDN TRPM4 12 Brugada Panel For Brugada Syndrome and Brugada-like Syndromes BpG Brugada Panel is the most efficient diagnostic tool on the market for Brugada syndrome (BrS) and Brugada-like syndromes (BrLS). In addition to BrS, the genes in the panel have been associated with early repolarization disorders. In atypical or unclear cases we recommend to choose the BpG Arrhythmia Panel. Price: 1100 € TAT: 21 days Genes covered: 18 genes ANK2 CACNA1C CACNA2D1 CACNB2 CAV3 GPD1L HCN4 KCND3 KCNE3 KCNH2 KCNJ8 RANGRF SCN1B SCN2B SCN3B SCN5A SLMAP TRPM4 BpG Brugada Panel enables rapid diagnostics, which can decrease the risk of sudden cardiac death when compared to slow, incremental diagnostic strategies. The rapid diagnosis may relieve stress as prolonged pre-diagnostic phase can be traumatic for the patient and surrounding family. 13 CPVT Panel For Catecholaminergic Polymorphic Ventricular Tachycardia BpG CPVT Panel is the most efficient diagnostic tool on the market for catecholaminergic polymorphic ventricular tachycardia (CPVT). It consists of 6 genes associated with dominant and recessive forms of CPVT. In atypical or unclear cases, we recommend to choose the BpG Arrhythmia Panel. Price: 1200 € TAT: 21 days Genes covered: 6 genes ANK2 CALM1 CASQ2 KCNJ2 RYR2 TRDN Genetic diagnostics forms an important component of CPVT diagnostics: ▪▪ The confirmation of a clinical diagnosis in symptomatic patients ▪▪ The identification of asymptomatic family members at risk of CPVT ▪▪ Genetic diagnosis enables affective surveillance and early initiation of treatment 14 LQTS Panel For Long QT Syndrome Subtypes (LQTS 1-13) BpG LQTS Panel provides efficient and rapid gene diagnostics for all reported long QT syndrome subtypes (LQTS 1-13) and recently described calmodulin 1 and 2 related LQTS. The updated test consists of 15 genes and one modulator gene. In atypical or unclear cases, we recommend to choose the BpG Arrhythmia Panel. Genetic diagnostics for patients with suspicion of hereditary channelopathies is supported by international guidelines (Ackerman et al. 2011). Price: 1000 € TAT: 21 days Genes covered: 15 (+1) genes AKAP9 ANK2 CACNA1C CALM1 CALM2 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 NOS1AP (Modulator gene) SCN4B SCN5A SNTA1 BpG LQTS Panel is useful for: ▪▪ Determining disease-causing mutation(s) and confirming clinical diagnosis in LQTS patients ▪▪ Determining LQTS subtype which guides risk assessment and treatment strategy ▪▪ Assessing the risk for asymptomatic family members of a proband with LQTS ▪▪ Genetic counseling and risk estimation of recurrence 16 SQTS Panel For Short QT Syndrome BpG SQTS Panel represents a genetic diagnostic tool for short QT syndrome (SQTS). It is a dominantly inherited genetically heterogeneous disease with high risk of life-threatening arrhythmias. The current panel consists of 6 genes associated with the disorder. Price: 1000 € TAT: 21 days Genes covered: 6 genes CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1 In the case of atypical features or unclear clinical diagnosis, we recommend using the BpG Arrhythmia Panel, which covers other hereditary arrhythmias that have overlapping features with SQTS. 17 Marfan Panel For Marfan and Marfan-like Syndromes BpG Marfan Panel is a powerful differential diagnostic tool with patients manifesting a connective tissue disorder with phenotypic features of Marfan syndrome. Disorders covered by Marfan Panel: ▪▪ Marfan syndrome ▪▪ Congenital contractural arachnodactyly (CCA) ▪▪ Loeys-Dietz syndrome (LDS) ▪▪ Ehlers-Danlos syndrome type 4 (vascular type) ▪▪ Arterial tortuosity syndrome ▪▪ Shprintzen-Goldberg syndrome If the patient has an isolated aortic aneurysm or aortic aneurysm with mild Marfan features, we recommend to use the BpG Aorta Panel, which covers all syndromic and non-syndromic forms of aortic aneurysm diseases. Price: 1200 € TAT: 21 days Genes covered: 9 genes COL3A1 FBN1 FBN2 TGFB2 TGFBR1 TGFBR2 SKI SLC2A10 SMAD3 19 Aorta Panel For Aortic Dilatation and Aortic Aneurysm Diseases BpG Aorta Panel is the most efficient genetic diagnostic tool on the market targeted for aortic dilatation and aortic aneurysm diseases. Our updated Aorta Panel consists 18 genes associated with syndromic and non-syndromic aortic aneurysm diseases. Price: 1200 € TAT: 21 days Genes covered: 18 genes ACTA2 COL3A1 COL5A1 COL5A2 EFEMP2 FBN1 FBN2 GATA5 MYH11 MYLK NOTCH1 PRKG1 SKI SLC2A10 SMAD3 TGFB2 TGFBR1 TGFBR2 Most of the aortic aneurysms associate to non-syndromic dilatation. However, at least 20% of aortic aneurysms are in context of syndromic diseases such as: ▪▪ Marfan syndrome ▪▪ Loeys-Dietz syndrome ▪▪ Vascular and other Ehlers-Danlos syndromes 20 PAH Panel For Pulmonary Arterial Hypertension BpG PAH Panel is the most efficient genetic diagnostic tool on the market for pulmonary arterial hypertension (PAH). As there is genetic overlap between PAH and hereditary hemorrhagic telangiectasia (HHT) this panel can be used as a diagnostic tool also in HHT patients. Price: 1200 € TAT: 21 days Genes covered: 7 genes ACVRL1 BMPR1B BMPR2 CAV1 ENG KCNK3 SMAD9 BpG PAH Panel is useful for: ▪▪ Classifying the subtype of pulmonary hypertension in the patient ▪▪ Assessing the prognosis and treatment strategy ▪▪ Genetic counseling and family member screening 21 EDMD Panel For Emery-Dreifuss Muscular Dystrophy BpG offers the most comprehensive EDMD genetic test on the market covering all known genetics behind EDMD. Mutations in seven genes are involved in the pathogenesis of EDMD. In February 2014, TTN gene was linked to EDMD phenotype (Chauveau et al. 2014). Therefore BpG has added TTN into the EDMD Panel, even though the role of TTN in EDMD needs still further confirmation. Price: 1300 € TAT: 21 days Genes covered: 7 genes EMD FHL1 LMNA SYNE1 SYNE2 TMEM43 TTN BpG EDMD Panel covers all three types of Emery-Dreifuss muscular dystrophy: ▪▪ X-linked (EDMD types 1 and 6) ▪▪ Autosomal dominant (EDMD types 2, 4, 5, 7) ▪▪ Autosomal recessive (EDMD types 3 and X) 22 Nephrotic Syndrome Panel For Steroid-resistant Nephrotic Syndrome BpG Nephrotic Syndrome Panel is a powerful genetic diagnostic tool for patients manifesting nephrotic syndrome. The panel is especially effective for patients with suspicion of steroid-resistant nephrotic syndrome (SRNS). Majority of the patients (80-90%) with nephrotic syndrome are responsive to steroid treatment, however the remaining 10-20% are considered to have SRNS. Identification of causative mutations can also be used in the prediction of increased risk of post-transplant proteinuria. Price: 1400 € TAT: 21 days* * 45 days until 31.5.2014 Genes covered: 9 genes ACTN4 CD2AP INF2 LAMB2 NPHS1 NPHS2 PLCE1 TRPC6 WT1 Use the genetic diagnosis as the basis of: ▪▪ Optimizing treatment strategies ▪▪ Evaluation of the risk of reoccurrence after transplantation ▪▪ Effective genetic counseling ▪▪ Risk evaluation in the family ▪▪ Prenatal testing 23 Hyperlipidemia Panel For All Types of Hyperlipidemia BpG Hyperlipidemia Panel is ideal for genetic analysis of patients with virtually any type of hyperlipidemia. All classical familial hypercholesterolemia (FH) genes (APOB, LDLR, LDLRAP1 and PCSK9) as well as genes associated with other hyperlipidemias are covered. In addition, BpG Hyperlipidemia Panel provides pharmacogenetic information that guides treatment of hyperlipidemia patients, e.g. optimizing cholesterol lowering therapies while suspecting statin associated myopathy. Phenotypes included in BpG Hyperlipidemia Panel: ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ ▪▪ Sitosterolemia Hypercholesterolemia Type III hyperlipidemia Familial hypercholesterolemia (AD and AR) Familial Lipoprotein Lipase Deficiency Familial hypercholesterolemia 3 Price: 1000 € TAT: 21 days* * 45 days until 31.5.2014 Genes covered: 8 genes + 9 pharmacogenetic polymorphisms ABCG5 ABCG8 APOB APOE LDLR LDLRAP1 LPL PCSK9 SLCO1B1 (1 SNP) CYP2C19 (8 SNPs) 25 Single Gene Tests GM1 Gangliosidosis Test GM1 gangliosidosis is a neurological and metabolic disorder that is inherited in an autosomal recessive pattern. As GM1 gangliosidosis progresses, it destroys neurons at central and peripheral nervous system. Three major types have been characterized based on the age of onset: infantile, juvenile and late-onset. GM1 gangliosidosis is caused by mutations in gene GLB1. Price: 1200 € TAT: 21 days Becker and Duchenne Muscular Dystrophy Test The Becker and Duchenne Muscular Dystrophy are related conditions caused by different mutations in the same defective gene, namely dystrophin (DMD). More than 2800 DMD mutations have been described in literature. Approximately half of DMD mutations are due to complex rearrangements, duplications, large deletions and copy number variations, which are not within the reach of current sequencing technology. Thus above-mentioned mutations are recommended to be tested before running the BpG’s test. Our test covers all other known mutations including insertions and deletions up to 50 bp. Price: 1300 € TAT: 21 days 27 Additional Services Family Member Testing (FMT) BpG provides efficient testing for family members of patients with previous genetic findings. Family member tests can be performed either to 1) identify mutation carriers or to 2) assess the pathogenicity of a novel variant. Custom sequencing for research applications In addition to clinical diagnostics panels, BpG provides customized sequencing projects and co-develops customized sequencing platforms for clients. We provide family members with either 1-3 mutations Sanger tests or a comprehensive NGS test, which is the same panel used for index patients. Typical collaborators for custom sequencing projects are research groups that have a need to sequence small to large number of samples for specific research questions. Sanger and NGS tests for family members: We can provide the following data when requested: ▪▪ ▪▪ ▪▪ ▪▪ 1 mutation Sanger 2 mutations Sanger 3 mutations Sanger NGS for family member 150€ 225€ 300€ 600€ ▪▪ Raw sequencing data ▪▪ Raw variant data ▪▪ Proprietary bioinformatics analysis and interpretation to the project 28 Nucleus™ 1 2 3 1. Place orders 2. Follow sample status 3. Read statements Physicians gateway to clinical genomics BpG hosts a highly secured web portal called Nucleus™ (nucleus.blueprintgenetics.com), which integrates clinicians to BpG services. Through Nucleus™ customers can place orders, submit patient information, follow the status of their orders and receive genetic statements. With the exception of signed consents, no other paperwork is needed. Ordering is also possible through our website or using classic PDF paper referrals found at BpG website (blueprintgenetics.com). 29 Clinical Statement BpG has a team of geneticists and clinicians Breakdown of the report who evaluate the sequence analysis report generated by the BpG bioinformatics pipeline. Statement Results are assessed by the clinical evalua▪▪ Patient’s clinical history and indication for tion team and variants graded as pathogenic genetic testing or likely pathogenic are confirmed by direct ▪▪ Interpretation and evaluation of variants with Sanger capillary sequencing. potential clinical relevance ▪▪ Related literature references ▪▪ Allele frequency evaluation using control cohorts (e.g. 1000 Genomes and ESP) ▪▪ Variant evaluation with various mutation prediction tools ▪▪ Clinical report prepared by our team of specialized clinicians and geneticists ▪▪ Reporting in accordance with ACMG guidelines ▪▪ Validation results (Sanger confirmation) Summary of results ▪▪ Sequencing performance metrics ▪▪ Variant tables with in silico analyses and allele frequencies in control populations Other supporting details ▪▪ ▪▪ ▪▪ ▪▪ Description of process steps Summary of methods Gene panel description Gene specific information 30 Technology and Performance OS-Seq™ - unique targeted sequencing method Per base coverage plot from BpG Aorta Panel with 16 genes. 99.8 % of target bases are covered at over 15x sequencing coverage. The relative position within individual genes is indicated along the X-axis, whiereas sequencing depth is depicted along the Y-axis. Oligonucleotide-Selective Sequencing (OS-Seq™) is an effective and high-quality targeted NGS approach. Targeted sequencing simplifies the genetic analysis by focusing specifically on genes of clinical significance. Compared to other targeted methods, OS-Seq™ is faster and easier to use. In addition, it has high specificity, sensitivity and reproducibility. High-quality sequencing ▪▪ 98-100% of base pairs of all the coding exons of clinically significant target genes covered ▪▪ Mean sequencing depth of over 350x ▪▪ 99.9% sensitivity and specificity ▪▪ 100% sensitivity for <5bp indels ▪▪ 80% reduction in manual sample preparation steps compared to other methods 31 Effective bioinformatics pipeline Dedecated computing infrastructure the functional consequence of amino acid changes are computed with multiple tools that increase the accuracy in the identification of potentially pathogenic variants. Analysis of data from NGS applications is a complex process, imposing challenging requirements both in terms of computing resources and Results validation software. The proprietary automated bioinforTo further aid in the process of variant interprematics pipeline developed and employed at tation, results are matched against a compreBpG, enables fast, reliable and highly accurate hensive database of disease-related mutations, results. collected and curated in-house, comprising Minimized false positive rate In addition to incorporating state-of-the-art algorithms for quality control, alignment and variant calling, the pipeline also employs filtering steps to remove common variants based on allele frequencies from relevant populations in the 1000 Genomes data as well as NHLBI GO Exome Sequencing Project. Moreover, information from more than 2500 scientific publications and publicly available databases. In summary, the bioinformatics pipeline at BpG is designed to provide our geneticists with comprehensive and accurate information in the minimum amount of time. Sample requirements: ▪▪ ▪▪ ▪▪ ▪▪ 5-10 ml of EDTA blood; 3 ml infant Purified DNA 10 μg (minimum) Saliva (Oragene DNA OG-500 kit, DNA Genotek) If you prefer buccal swab or filter card for test sample, please contact our Customer Support 33 How To Order Order Send Place your order by 3 alternative options: 1. As a registered customer, the easiest way to order is by using our online purchasing and reporting system, Nucleus (nucleus.blueprintgenetics.com) 2. Order directly from our webpage (www.blueprintgenetics.com) 3. Print PDF order form from our webpage and send the form by land mail Send the sample to us (the requirements are on the adjacent page). Shipping address is: Blueprint Genetics Samples Tukholmankatu 8, Biomedicum 2U 00290 Helsinki, Finland Analysis 21 days is enough for the entire analysis: ▪▪ Sequencing ▪▪ Bioinformatics ▪▪ Interpretation Results Receive the clinical statement made together by our geneticists and clinicians: ▪▪ You can simply login (online) to the Nucleus to see the results. ▪▪ If requested, the results can be sent also by regular mail. For any questions please contact our support: Contact ▪▪ Email: support@blueprintgenetics.com ▪▪ p. +358 40 2511 372 34 Pricing NGS panels Genes Price Pan Cardiomyopathy Panel 103 €1,500 Core Cardiomyopathy Panel 72 €1,400 Heart Panel 133 €1,900 Noonan Syndrome Panel 12 €1,200 Arrhythmia Panel 47 €1,600 Brugada Syndrome Panel 18 €1,100 CPVT Panel 6 €1,200 LQTS Panel 15 €1,000 SQTS Panel 6 €1,000 Marfan Panel 9 €1,200 Aorta Panel 18 €1,200 PAH Panel 7 €1,200 Emery-Dreifuss MD Panel 7 €1,300 Nephrotic Syndrome Panel 9 €1,400 Hyperlipidemia Panel 8 €1,000 Becker and Duchenne MD Test 1 €1,300 GM1 Gangliosidosis Test 1 €1,200 Family member testing Mutations Price Sanger: Family member test 1 €150 Sanger: Family member test 2 €225 3 €300 Sanger: Family member test NGS: Family member testing Extra charges €600 Price DNA extraction per sample €50 Results delivery by regular mail €20 Visit our website: www.blueprintgenetics.com Contact our support: support@blueprintgenetics.com p. +358 40 2511 372 Visit our website: www.blueprintgenetics.com Contact our support: support@blueprintgenetics.com p. +358 40 2511 372
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