{"id":8779,"date":"2015-03-23T19:58:53","date_gmt":"2015-03-23T19:58:53","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/behindthebench\/?p=8779"},"modified":"2020-05-28T19:19:40","modified_gmt":"2020-05-28T19:19:40","slug":"using-quantstudio-3d-for-cyp2d6-polymorphism-genotyping","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/using-quantstudio-3d-for-cyp2d6-polymorphism-genotyping\/","title":{"rendered":"Using QuantStudio 3D for CYP2D6 polymorphism genotyping"},"content":{"rendered":"

QuantStudio\u2122 12K Flex pharmacogenomics extended to allele-specific copy number with digital PCR<\/strong><\/p>\n

The rapidly-growing field of pharmacogenomics (PGx) is the study of genetic variation as it relates to drug response, determined by variation in drug metabolism enzyme and transporter (DMET) genes. The significance of PGx will increase as personalized medicine becomes more widely adopted.<\/p>\n

A flexible workflow from sample preparation through \"pgx<\/a>genotyping, genotype calling, copy number analysis and translation of sample genetic information to star allele haplotype nomenclature is readily available with a combination of the MagMAX\u2122\u00a0<\/sup>DNA Isolation System,<\/a> the QuantStudio\u2122 12K Flex Real-Time PCR System<\/a>, and software analysis tools including TaqMan\u00ae Genotyper, CopyCaller\u2122 and AlleleTyper\u2122<\/span>. Options for PGx SNP genotyping assay panels include a set of 158 DME assays derived from the PharmaADME consortium (the TaqMan\u00ae OpenArray PGx Panel), the TaqMan\u00ae PGx Express Panel (contains 60 popular PGx assays) or a custom panel, choosing from among 2,700 unique TaqMan\u00ae DME Assays, 6.2 million predesigned TaqMan\u00ae SNP Genotyping and Copy Number Assays. All genotyping assays are available in single tube format, or may be ordered in pre-plated format on OpenArray<\/a> or TaqMan\u00ae Array plates to be run on\u00a0 QuantStudio\u2122 12K Flex Real-Time PCR System<\/a>.<\/p>\n

For more information about our pharmacogenomics solutions using TaqMan\u00ae assays, comprehensive page is available here <\/a>with links to a PGx brochure<\/a>, a workflow application note<\/a>, and a list of commonly ordered\u00a0PGx assays<\/a>. In addition, the PGx Experiments User Guide<\/a>) details about the AlleleTyper\u2122 software<\/a> for star allele reporting are available.<\/p>\n

The important drug metabolism enzyme CYP2D6 is implicated in metabolizing roughly 20% of medications. Over 100 star allele haplotypes have been defined for the highly polymorphic CYP2D6 gene. For samples that carry CYP2D6 duplications and are heterozygous for star alleles associated with different functional categories, it may be important to identify the duplicated allele to accurately determine the metabolizer phenotype. By including the QuantStudio\u2122 3D Digital PCR System<\/a> for allele-specific copy-number, an unambiguous CYP2D6 genotype and phenotype can be assigned.<\/p>\n

For more information about this application, a recent presentation has been made available here<\/a>.\u00a0 And of course if you have any questions feel free to leave them in the comments below.<\/p>\n","protected":false},"excerpt":{"rendered":"

QuantStudio\u2122 12K Flex pharmacogenomics extended to allele-specific copy number with digital PCR The rapidly-growing field of pharmacogenomics (PGx) is the study of genetic variation as it relates to drug response, determined by variation in drug metabolism enzyme and transporter (DMET) genes. The significance of PGx will increase as personalized medicine becomes more widely adopted. A<\/p>\n","protected":false},"author":120,"featured_media":8791,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_kad_blocks_custom_css":"","_kad_blocks_head_custom_js":"","_kad_blocks_body_custom_js":"","_kad_blocks_footer_custom_js":"","_monsterinsights_skip_tracking":false,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[108,180],"tags":[17,57,153,43,46],"division":[],"class_list":{"0":"post-8779","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-lab-tips-and-tricks","8":"category-pharmacogenomics","9":"tag-applied-biosystems","10":"tag-digital-pcr","11":"tag-genomic-variants","12":"tag-pcr","13":"tag-real-time-pcr","14":"entry"},"_selected_authors":"","_selected_reviewers":"","acf":[],"yoast_head":"\nUsing QuantStudio 3D for CYP2D6 polymorphism genotyping - Behind the Bench<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.thermofisher.com\/blog\/behindthebench\/using-quantstudio-3d-for-cyp2d6-polymorphism-genotyping\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Using QuantStudio 3D for CYP2D6 polymorphism genotyping\" \/>\n<meta property=\"og:description\" content=\"QuantStudio\u2122 12K Flex pharmacogenomics extended to allele-specific copy number with digital PCR The rapidly-growing field of pharmacogenomics (PGx) is the study of genetic variation as it relates to drug response, determined by variation in drug metabolism enzyme and transporter (DMET) genes. The significance of PGx will increase as personalized medicine becomes more widely adopted. 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