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Reliability in genetics Products catalogue Kits for clinical genetic testing Global sales Reliability in genetics Imegen is a leading designer and manufacturer of kits for clinical genetic testing based on a wide range of molecular technologies. Our portfolio currently includes more than 100 references for kits based on Sanger and NGS sequencing technologies, digital PCR, and real time PCR. Since 1998, we have developed the highest quality products to provide pioneering solutions for the clinical doctors worldwide. We improve and adapt our service to your needs. EUROPE Belgium Bulgaria Denmark Greece Iceland Ireland Italy Netherlands Portugal Spain Turkey UK ASIA Saudi Arabia Iran India Malaysia Philippines AFRICA Morocco LATIN AMERICA Mexico Colombia Argentina Chile Peru Bolivia NORTH AMERICA USA Worldwide technical support ISO 9001 Imegen is certified for the design, development, manufacturing and commercialization of kits for genetic testing. ISO 13485 Imegen is certified for the design, development, manufacturing and commercialization of kits for in vitro diagnosis. Visit www.imegen.es or contact us for further information on our kits: Phone: +34 963 212 340 e-Mail: [email protected] imegenTM is a trademark of Instituto de Medicina Genómica, registered as imegen® in Spain Available Technologies Imegen strives for optimal diagnostic efficacy by using cutting-edge molecular and genetic analysis technologies and by selecting the most appropriate method for each clinical case imegenTM kits | User-friendly | Easy interpretation of Results (Complete Sequencing by NGS) NextGeneDx FLEXIBLE CAN BE RUN ON COMMON PCR INSTRUMENTS COMPLETE CONTAINS ALL NECESSARY COMPONENTS. NO EXTRA COST Reference Kit description Kit name rnx Speciality IMG-172 Molecular genetic analysis of BRCA1 and BRCA2 genes by NGS imegenTM-BRCA-NGS 12 Oncology; Andrology, gynecology and obstetrics IMG-190 Molecular genetic analysis of PTPN11, RAF1, SOS1, KRAS and BRAF genes by NGS imegenTM-Noonan-NGS 6 Paediatrics; Andrology, gynecology and obstetrics IMG-191 Molecular genetic analysis of PTPN11, RAF1, SOS1, KRAS, NRAS, SPRED1, HRAS, MAP2K1, BRAF, MAP2K2, CBL, SHOC2 and RIT1 genes related to rasopathy by NGS imegenTM-Noonan-Like-NGS 10 Paediatrics; Andrology, gynecology and obstetrics IMG-192 Molecular genetic analysis of FBN1, TGFBR1 and TGFBR2 genes by NGS imegenTM-Marfan-NGS 6 Cardiology; Paediatrics IMG-227 Molecular genetic analysis of CFTR, PRSS1, SPINK1, CTRC and CASR genes related to pancreatitis by NGS imegenTM- Pancreatitis-NGS 6 Digestive IMG-234 Plasmids to track samples along for the NGS sequencing genetic analysis imegenTM-Sample tracking Kit 48x12 IMG-259 Molecular genetic analysis of SCN5A, KCNQ1, KCNH2, KCNE1, KCNE2 and CAV3 genes by NGS imegenTM-QT Largo-NGS 6 Cardiology IMG-260 Molecular genetic analysis of PKP2, DSP, DSG2, DSC2 and JUP genes by NGS imegenTM-ARVD–NGS 6 Cardiology IMG-261 Molecular genetic analysis of ACTC1, MYBPC3, MYH6, MYH7, MYL2, MYL3, TCAP, TNNC1, TNNI3, TNNT2 and TPM1 genes by NGS imegenTM-Miocardiopatía Hipertrófica-NGS 6 Cardiology NGS based on Illumina technology. VALIDATED CE/ IVD MARKED Techniques and features NextGeneDx Liquid format Capillary Electrophoresis Reference Kit description Kit name rnx Speciality IMG-117-2 Molecular genetic analysis of BRCA1 gene by Sanger sequencing TM imegen -BRCA1 12 Oncology; Andrology, gynecology and obstetrics IMG-118-2 Molecular genetic analysis of BRCA2 gene by Sanger sequencing imegenTM-BRCA2 12 Oncology; Andrology, gynecology and obstetrics IMG-132 Molecular genetic analysis of MSH2 gene by Sanger sequencing imegenTM-MSH2 6 Oncology; Digestive IMG-133 Molecular genetic analysis of MLH1 gene by Sanger sequencing imegenTM-MLH1 6 Oncology; Digestive IMG-134 Molecular genetic analysis of MSH6 gene by Sanger sequencing imegenTM-MSH6 6 Oncology; Digestive IMG-135 Molecular genetic analysis of CFTR gene by Sanger sequencing imegenTM-CFTR 12 Paediatrics; Andrology, gynecology and obstetrics IMG-148 Molecular genetic analysis of APC gene by Sanger sequencing imegenTM-APC 6 Oncology IMG-150 Molecular genetic analysis of SCN1A gene by Sanger sequencing imegenTM-SCN1A 6 Paediatrics; Neurology IMG-152 Detection of SCA1, SCA2, SCA3, SCA6 and SCA7 expansions by fragment analysis imegenTM-SCAs 12 Neurology IMG-153 Detection of CAG expansion in the AR gene by fragment analysis imegenTM-SBMA 12 Paediatrics; Neurology IMG-154 Detection of CAG expansion in the HTT gene by fragment analysis imegenTM-Huntington 12 Neurology IMG-155 Detection of GAA expansion in the FXN gene by fragment analysis imegenTM-Friedreich 12 Paediatrics; Neurology IMG-156 Molecular genetic analysis of HBB gene by Sanger sequencing imegenTM-HBB 24 Haematology IMG-173 Detection of CTG expansion in the DMPK gene by fragment analysis imegenTM-DM1 12 Neurology IMG-178 Molecular genetic analysis of NF1 gene by Sanger sequencing imegenTM-NF1 6 Oncology ; Paediatrics IMG-237 Detection of INDEL type mutations in CALR gene by fragment analysis imegenTM-CALR kit 33 Oncology; Haematology IMG-238 Detection of ITD mutations in FLT3 gene by fragment analysis imegenTM-FLT3 kit 33 Oncology; Haematology Techniques and features Capillary Electrophoresis Liquid format Real Time PCR Reference Kit description Kit name rnx Speciality IMG-108 t(9;22)(q34;q11) BCR-ABL rearrangement detection by real time PCR imegen -BCR-ABL 48X2 Oncology; Haematology IMG-109 CBFB-MYH11 inv(16)(p13q22) A typeA rearrangement quantification by real time PCR imegenTM-Inv16 48X2 Oncology; Haematology IMG-110 Genotyping of JAK2 p.V617F mutation by real time PCR imegenTM-JAK2 50 Oncology; Haematology IMG-111 PML-RARa t(15;17)(q22;q21) rearrangement quantification by real time PCR imegenTM-PML-RARA 48X2 Oncology; Haematology IMG-116-1 Screening of informative markers by real time PCR imegenTM-Quimera Screening I 6X8 Oncology; Haematology IMG-116-2 Quantification of SRY in hematopoietic chimeras by real time PCR imegenTM-Quimera SRY 25X2 Oncology; Haematology IMG-116-3 Quantification of Q116-3I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-3I 25X2 Oncology; Haematology IMG-116-4 Quantification of Q116-4I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-4I 25X2 Oncology; Haematology IMG-116-5 Quantification of Q116-5I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-5I 25X2 Oncology; Haematology IMG-116-6 Quantification of Q116-6I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-6I 25X2 Oncology; Haematology IMG-116-7 Quantification of Q116-7I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-7I 25X2 Oncology; Haematology IMG-116-8 Quantification of Q116-8I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-8I 25X2 Oncology; Haematology IMG-116-9 Quantification of Q116-9I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-9I 25X2 Oncology; Haematology IMG-116-10 Quantification of Q116-10I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-10I 25X2 Oncology; Haematology IMG-116-11 Quantification of Q116-11I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-11I 25X2 Oncology; Haematology IMG-116-12 Quantification of Q116-12I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-12I 25X2 Oncology; Haematology IMG-116-13 Quantification of Q116-4D in hematopoietic chimeras by real time PCR imegen-Quimera Q116-4D 25X2 Oncology; Haematology IMG-116-14 Quantification of Q116-5D in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-5D 25X2 Oncology; Haematology IMG-116-17 Quantification of Q116-10D in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-10D 25X2 Oncology; Haematology IMG-116-18 Quantification of RhD in hematopoietic chimeras by real time PCR imegenTM-Quimera RhD 25X2 Oncology; Haematology IMG-116-20 Quantification of Q116-20I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-20I 25X2 Oncology; Haematology Can be used in a wide variety of thermal cyclers. TM Techniques and features Real Time PCR Dry format Real Time PCR Reference Kit description Kit name rnx Speciality IMG-116-21 Quantification of Q116-12D in hematopoietic chimeras by real time PCR imegen -Quimera Q116-12D 25X2 Oncology; Haematology IMG-116-22 Screening of informative markers by real time PCR imegenTM-Quimera Screening II 6X8 Oncology; Haematology IMG-116-23 Quantification of Q116-23I in hematopoietic chimeras by real time PCR imegenTM-Quimera Q116-23I 25X2 Oncology; Haematology IMG-116-24 Screening of informative markers by real time Multiplex PCR imegenTM-QScreening Multiplex I 10X8 Oncology; Haematology IMG-116-26 Screening of informative markers by real time Multiplex PCR focus on digital PCR imegenTM-Quimera Screening Multiplex Plus 10X8 Oncology; Haematology IMG-121 M-BCR rearrangement quantification ( p210 BCR-ABL) by real time PCR imegenTM-M-BCR-ABL 48X2 Oncology; Haematology IMG-122 m-BCR rearrangement quantification ( p190 BCR-ABL) by real time PCR imegenTM-m-BCR-ABL 48X2 Oncology; Haematology IMG-127 Detection of A(TA)7TAA allele in the UGT1A1 gene promotor by real time PCR imegenTM-Gilbert 48 Digestive; Paediatrics IMG-130 PML-RARa t(15;17)(q22;q21) rearrangement detection by real time PCR imegenTM-PML-RARA Screening 48X2 Oncology; Haematology IMG-199 Genotyping of p.(Ala368Ser) mutation of SERPINC1 (antithrombin) by real time PCR imegenTM-Cambridge II 48 Haematology IMG-211 Genotyping of Glu342Lys (PI-Z allele) and Glu264Val (PI-S allele) mutations of SERPINA1 geneby real time PCR imegenTM-Alfa-1-AT 48X2 Paediatrics; Digestive IMG-212 Genotyping of c.677C>T mutation of MTHFR gene by real time PCR imegenTM-MTHFR 48 Haematology; Andrology, gynecology and obstetrics IMG-213 Genotyping of rs1297980 polymorphism of IL28B gene by real time PCR imegenTM-IL28B 48 Digestive IMG-214 Genotyping of c.20110G>A mutation of F2 (prothrombin) gene by real time imegenTM-Factor II 48 Haematology; Andrology, gynecology and obstetrics IMG-215 Genotyping of c.46C>T mutation of F12 gene by real time PCR imegenTM-Factor XII 48 Haematology; Andrology, gynecology and obstetrics IMG-216 Genotyping of c.1298A>C mutation of MTHFR gene by real time PCR imegenTM-MTHFR II 48 Haematology; Andrology, gynecology and obstetrics IMG-217 Genotyping of p.Arg506Gln mutation of F5 (Leiden) gene by real time PCR imegenTM-Factor V 48 Haematology; Andrology, gynecology and obstetrics IMG-218 Genotyping of p.Cys282Tyr, p.His63Asp.1298A>C and p.Ser65Cys mutations of HFE gene by real time PCR imegenTM-HFE 48X3 Haematology IMG-220 Genotyping of p.Cys112Arg and p.Arg158Cys variants of APOE gene by real time PCR imegenTM-Apoe 48X2 Neurology IMG-235 Detection of A, B and D-type mutations of NPM1 gene by real time PCR imegenTM-NPM1 kit 24 Oncology; Haematology IMG-236 Detection of W515L and W515K mutations of MPL gene by real time PCRl imegenTM-MPL kit 24 Oncology; Haematology Can be used in a wide variety of thermal cyclers. TM Techniques and features Real Time PCR Liquid Format Dry format Digital PCR Reference Kit description Kit name rnx Speciality IMG-116-27 Quantification of SRY in hematopoietic chimeras by digital PCR imegen -Quimera SRY dPCR 12 Oncology; Haematology IMG-116-28 Quantification of RhD in hematopoietic chimeras by digital PCR imegenTM-Quimera RhD dPCR 12 Oncology; Haematology IMG-116-29 Quantification of Q116-3I in hematopoietic chimeras by digital imegenTM-Quimera Q116-3I dPCR 12 Oncology; Haematology IMG-116-30 Quantification of Q116-4I in hematopoietic chimeras by digital imegenTM-Quimera Q116-4I dPCR 12 Oncology; Haematology IMG-116-31 Quantification of Q116-5I in hematopoietic chimeras by digital imegenTM-Quimera Q116-5I dPCR 12 Oncology; Haematology IMG-116-32 Quantification of Q116-6I in hematopoietic chimeras by digital imegenTM-Quimera Q116-6I dPCR 12 Oncology; Haematology IMG-116-33 Quantification of Q116-7I in hematopoietic chimeras by digital imegenTM-Quimera Q116-7I dPCR 12 Oncology; Haematology IMG-116-34 Quantification of Q116-11I in hematopoietic chimeras by digital imegenTM-Quimera Q116-11I dPCR 12 Oncology; Haematology IMG-116-35 Quantification of Q116-10I in hematopoietic chimeras by digital imegenTM-Quimera Q116-10I dPCR 12 Oncology; Haematology IMG-116-36 Quantification of Q116-12D in hematopoietic chimeras by digital imegenTM-Quimera Q116-12D dPCRdPCR 12 Oncology; Haematology IMG-116-37 Quantification of Q116-23I in hematopoietic chimeras by digital imegenTM-Quimera Q116-23I dPCR 12 Oncology; Haematology IMG-116-38 Quantification of Q116-24I in hematopoietic chimeras by digital imegenTM-Quimera Q116-24I dPCR 12 Oncology; Haematology IMG-116-39 Quantification of Q116-25I in hematopoietic chimeras by digital imegenTM-Quimera Q116-25l dPCR 12 Oncology; Haematology IMG-116-40 Quantification of Q116-26D in hematopoietic chimeras by digital imegenTM-Quimera Q116-26D dPCR 12 Oncology; Haematology IMG-116-41 Quantification of Q116-27D in hematopoietic chimeras by digital imegenTM-Quimera Q116-27D dPCR 12 Oncology; Haematology IMG-116-42 Quantification of Q116-28I in hematopoietic chimeras by digital imegenTM-Quimera Q116-28I dPCR 12 Oncology; Haematology IMG-116-43 Quantification of Q116-29D in hematopoietic chimeras by digital imegenTM-Quimera Q116-29D dPCR 12 Oncology; Haematology IMG-116-44 Quantification of Q116-30D in hematopoietic chimeras by digital imegenTM-Quimera Q116-30D dPCR 12 Oncology; Haematology IMG-116-45 Quantification of Q116-31I in hematopoietic chimeras by digital imegenTM-Quimera Q116-31I dPCR 12 Oncology; Haematology IMG-116-46 Quantification of Q116-32I in hematopoietic chimeras by digital imegenTM-Quimera Q116-32I dPCR 12 Oncology; Haematology IMG-116-47 Quantification of Q116-33I in hematopoietic chimeras by digital imegen-Quimera Q116-33l dPCR 12 Oncology; Haematology IMG-116-48 Quantification of Q116-34D in hematopoietic chimeras by digital imegenTM-Quimera Q116-34D dPCR 12 Oncology; Haematology For ThermoFisher and Bio-Rad platforms. TM Techniques and features Digital PCR Liquid format Dry format NextGeneDx (complete sequencing by NGS) As experts in human genetic testing, with more than 25 years of experience, we have developed NextGeneDx®, a new NGS-based technology designed to obtain the complete and specific DNA sequence of a simultaneous number of genes involved in inherited diseases. NextGeneDx® kits are ready to use in combination with Sample tracking kit (REF: IMG-234), allowing each sample to be easily monitored from the PCR reactions preparation step to bioinformatics analysis avoiding sample-crossing throughout the protocol. The main advantages of NextGeneDx® kits are: COMPLEMENTS: SOFTWARE + SAMPLE TRACKING Design adapted to concrete clinical matters, reducing diagnostic uncertainty, and therefore, increasing its clinical value. High resolution and coverage (> 100X) of all coding regions of the involved exons and adjacent intronic regions (> 10 bp). Specificity and robustness comparable to Sanger together with superior sensitivity, since this tool can detect mosaicisms. Very usefull to obtain quality acreditations and certifications. Reference Kit description Kit name IMG-234 Plasmids to track samples along for the NGS sequencing genetic analysis imegen -Sample tracking Kit TM rxn 48X12 Capillary electrophoresis Detection of large pathogenic expansions Pathogenic expansions are mainly caused by an increase in the number of repetitions of trinucleotides (CAG, CTG, CGG, GAA,…), although there are also expansions caused by internal tandem duplications (ITDs) or variations due to insertions/deletions changes. More than 373 genes analyzed by this technology. Our kits for fragment analysis by the capillary electrophoresis technique are aimed at identifying and/or quantifying the number of repetitions that can be considered to be normal in the population and identifying when the number of repetitions exceeds this threshold value. Reliability in genetics Digital PCR Digital PCR provides ultrasensitive and absolute DNA quantification. It is paticulary useful for low abundance targets and for monitoring subtle changes in target levels that cannot be detected with real-time PCR. App imegen Quimera Advantages: No standard curves, no sample replicates, and no pre-transplant samples to quantify the informative marker. Our Quimera kits include a useful App to help medical doctors to monitor their patients. Real Time PCR Real time PCR can be used in a wide range of applications. This versatile technology enables sensitive and specific target detection. TaqMan technology based kits The most common method for labelling and detecting qPCR products Advantages: Results in 3 hours Easy interpretation of Results Reliability in genetics Reliability in genetics C/ Agustín Escardino 9, Parc Científic de la Universitat de València 46980 Paterna · Valencia • SPAIN [email protected] www.imegen.es