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The CarrierScan 1S Assay Kit includes all necessary array plates, reagents, and instrument consumables to process 96 samples.

Designed specifically for the needs of high-productivity molecular genetics research laboratories, the CarrierScan 1S Assay enables the assessment of more variants per sample in a single, microarray-based, high-throughput, cost-effective format. Complete with simple data analysis and reporting software, this novel solution enables labs to quickly generate all relevant carrier status data.

Benefits
Reduce the need to outsource your sample investigation and increase your ability to compete in the expanded carrier screening research market with the CarrierScan 1S Assay, which allows you to:

• Consolidate multiple assays into one—replace multiple technologies with a single pan-ethnic assay to detect >6,000 structural and sequence variants in 600 genes for 600 diseases
• Determine SMN1 carrier status
• Trust in your results—empirically selected detection probes and biological validation of the most common markers help enable increased reliability, reproducibility, and confidence in your data
• Analyze and export data with ease—fast, intuitive software simplifies data analysis, export, and reporting of results
• Run more samples and reduce hands-on time—process 96 samples per run, up to 768 samples per week, with the flexibility of manual or automated sample preparation on the GeneTitan Multi-Channel (MC) Instrument

Content
The CarrierScan 1S Assay detects more than 6,000 sequence and structural variants in over 600 genes for 600 diseases. Content includes variants informed by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) guidelines, as well as from well-curated, prominent databases and peer-reviewed literature [1–6]. The figure below shows examples of the comprehensive content offered by the CarrierScan Assay. Structural variant detection includes 24 genes/loci with exon and gene level detection for disorders such as DMD, CFTR, GJB6, HBA1, HBA2, HBB, etc.

High fidelity manufacturing and reproducible results
Carrier screening research assays require a platform that can guarantee 100% reproducibility of the specific array content from run to run. Unlike bead-based technologies that experience batch-to-batch variability and single nucleotide polymorphism (SNP) dropouts with each manufacturing batch, the photolithography manufacturing technology used in the CarrierScan array guarantees 100% fidelity and ensures all markers are present in every manufacturing batch for as long as necessary, addressing a major concern for such efforts.

The CarrierScan 1S Assay utilizes the proven and reproducible chemistry of the Axiom 2.0 Assay and GeneTitan Multi-Channel (MC) Instrument, a microarray platform preferred worldwide by genetic researchers for the efficient workflow, high throughput, and reproducibility of results critical to multiyear data collection and analysis efforts.

References
1. Grody WW et al. (2013) ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 15:482–483.
2. Landrum MJ et al. (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44:D862–868.
3. Stenson PD et al. (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577–581.
4. Zlotogora J et al. (2015) The Israeli national population program of genetic carrier screening for reproductive purposes. Genet Med 18:203–206.
5. Langfelder-Schwind E et al. (2014) Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.J Genet Couns 23:5–15.
6. Sosnay PR et al. (2013) Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45:1160–1167.

The Axiom Precision Medicine Diversity Research Array (PMD Research Array) is a comprehensive imputation-aware genotyping resource designed to drive deeper scientific insights into complex disease susceptibility, pharmacogenomics (PGx), and genetic factors underlying wellness and lifestyle in diverse populations to advance population genomics studies. It offers >850,000 markers selected for high genomic coverage from the 1000Genomes Project Phase III. Additional gene variants were chosen from broadly referenced public databases, including ClinVar, NHGRI-GWAS catalog, CPIC, PharmaGKB, and PharmaADME.

The PMD Research Array is ideal for bio-banking, longitudinal cohort studies in precision medicine initiatives, clinical and translational research, and clinical trials in drug discovery.

This array kit includes the 1x96-format array plate, Axiom 2.0 Plus reagents, and Axiom GeneTitan Consumables Kit. The Axiom 2.0 Plus reagents include primers for the gene-specific amplification step which enables access to alleles with known relevance to drug metabolism. For PMD Research Array offered with Axiom 2.0 reagents, please see Cat. No. 951962.

Highlights:
• Clinically relevant variants with emphasis on variants in ACMG59 genes
• Over 5,000 variants in over 1,100 genes of known PGx value including CPIC Level A variants
• Accurate genotyping of highly predictive markers in genes including CYP2D6, CYP1A2, CYP2B6, CYP2A6, SULT1A1, CYP2C19, and CYP2C8 that are in highly homologous regions with known relevance to drug metabolism. The array offers haplotypes and diplotypes for PGx variants in translation tables and includes Star Allele Nomenclature as part of the standard deliverables.
• Blood phenotyping variants for blood typing and bleeding disorders
• Customizable—the array can be customized with up to 50,000 markers without affecting the imputation accuracy, or it can be fully customized as required

Coverage:
• Genome-wide association study (GWAS) imputation module with ~800,000 markers across all ancestral populations
• Evidence-based markers for relevant variants including ClinVar variants for comprehensive coverage of ACMG59 genes
• PGx variants per Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines and Pharmacogenomics Knowledge Base (PharmGKB), variants in Very Important Pharmacogenes (VIP), and PharmaADME core variants. The ADME category includes alleles with known relevance to drug metabolism.
• Blood typing variants that can be used to genotype and identify rare blood donors, bleeding disorders, and blood conditions such as sickle cell
• Disease-related variants (Alzheimer’s, cancer, cardiac, cardiometabolic, diabetes, neurological disorder, and other rare variants)
• Immune-related markers (human leukocyte antigen, killer immunoglobulin-like receptors, autoimmune, and inflammatory)
• Functional variants (loss of function, expression quantitative trait loci, nonsynonymous variants, lung phenotypes)
• Ancestry, wellness, and traits-related variants—includes environment and lifestyle variants such as those associated with skin and eye pigmentation, caffeine consumption, cholesterol levels, weight and obesity; variants used for tracking (fingerprint and sample tracking, mitochondrial, Y chromosome)

The Axiom Precision Medicine Diversity Research Array (PMD Research Array) is a comprehensive imputation-aware genotyping resource designed to drive deeper scientific insights into complex disease susceptibility, pharmacogenomics (PGx), and genetic factors underlying wellness and lifestyle in diverse populations to advance population genomics studies. It offers >850,000 markers selected for high genomic coverage from the 1000Genomes Project Phase III. Additional gene variants were chosen from broadly referenced public databases, including ClinVar, NHGRI-GWAS catalog, CPIC, PharmaGKB, and PharmaADME.

The PMD Research Array is ideal for bio-banking, longitudinal cohort studies in precision medicine initiatives, clinical and translational research, and clinical trials in drug discovery.

This array kit includes the 1x96-format array plate, Axiom 2.0 Reagents, and Axiom GeneTitan Consumables Kit. For PMD Research Array with Axiom 2.0 Plus reagents, please see Cat. No. 951961.

Highlights:
• Clinically relevant variants with emphasis on variants in ACMG59 genes
• Over 5,000 variants in over 1,100 genes of known PGx value including CPIC Level A variants
• Blood phenotyping variants for blood typing and bleeding disorders
• Customizable—the array can be customized with up to 50,000 markers without affecting the imputation accuracy, or it can be fully customized as required

Coverage:
• Genome-wide association study (GWAS) imputation module with ~800,000 markers across all ancestral populations
• Evidence-based markers for relevant variants including ClinVar variants for comprehensive coverage of ACMG59 genes
• PGx variants per Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines and Pharmacogenomics Knowledge Base (PharmGKB), variants in Very Important Pharmacogenes (VIP), and PharmaADME core variants. The ADME category includes alleles with known relevance to drug metabolism.
• Blood typing variants that can be used to genotype and identify rare blood donors, bleeding disorders, and blood conditions such as sickle cell
• Disease-related variants (Alzheimer’s, cancer, cardiac, cardiometabolic, diabetes, neurological disorder, and other rare variants)
• Immune-related markers (human leukocyte antigen, killer immunoglobulin-like receptors, autoimmune, and inflammatory)
• Functional variants (loss of function, expression quantitative trait loci, nonsynonymous variants, lung phenotypes)
• Ancestry, wellness, and traits-related variants—includes environment and lifestyle variants such as those associated with skin and eye pigmentation, caffeine consumption, cholesterol levels, weight and obesity; variants used for tracking (fingerprint and sample tracking, mitochondrial, Y chromosome)

AmpliTaq Gold® 360 PCR Master Mix contains everything required for successful PCR amplification in one convenient package—all components are premixed and premeasured. AmpliTaq Gold® 360 Master Mix was designed for 360° coverage of a full range of targets. The master mix is supplied at 2X the recommended usage concentration for easy dilution when adding template and primers. Designed for convenience, the AmpliTaq Gold® 360 PCR Master Mix scales to various reaction volumes for greater application and format flexibility. The main ingredient of the master mix is AmpliTaq Gold® 360 DNA Polymerase but it also contains the world-class 360 GC Enhancer which can be added optionally for high GC–content templates. With the wide template coverage, optimization of PCR reaction conditions, is virtually eliminated with the use of AmpliTaq Gold® 360 Master Mix. Key features:

• Optimized for the broadest range of targets—from everyday to challenging
• Unmatched sensitivity, specificity, and yield
• Robust amplification of GC-rich sequences with market-leading 360 GC Enhancer
• Achieves the highest-quality sequencing data
• Easy-to-use, premixed master mix

Optimized for easy and challenging targets
Challenging targets include AT-rich, GC-rich, primer-dimer–forming amplicons, homopolymer repeats, and amplicons that pose sequencing challenges. Amplicons that previously required specialized enzymes and reaction conditions can now be reproducibly amplified with a single reagent under standardized conditions (see figure). Competitive benchmarking across more than 40 amplicons distinguishes AmpliTaq Gold® 360 as the best-performing enzyme, ensuring the highest probability of success for the amplification of both everyday and challenging targets (see table).

Optimized for automated, hot-start PCR
AmpliTaq Gold® 360 DNA Polymerase is the key ingredient in an automated, convenient, and efficient hot-start PCR. When AmpliTaq Gold® 360 PCR Master Mix is added to the reaction mixture at room temperature, the inactive enzyme is not capable of primer extension. Any low-stringency mispriming events that may have occurred will not be enzymatically extended and subsequently amplified. An initial thermal incubation step is required for activation and ensures that active enzyme is generated only at temperatures where the DNA is fully denatured. The amount of AmpliTaq Gold® 360 DNA polymerase increases in the reaction slowly with each cycle number, and specific product yield increases without buildup of nonspecific products, including primer dimers. Excellent specificity across a broad range of targets (see figure). The extreme specificity allows easier multiplexing and allelic discrimination.

Amplify low-copy amplicons and long targets
AmpliTaq Gold® 360 DNA Polymerase efficiently amplifies targets present at low copy number (see figure), even in the presence of high concentrations of complex DNA, making it especially suited for low-copy pathogen detection, and amplification of targets from degraded DNA samples. The extreme purity of the enzyme contributes to its unmatched sensitivity. AmpliTaq Gold® 360 DNA Polymerase efficiently and reproducibly amplifies long (up to 5 kb) sequences. The figure shown demonstrates robust PCR amplification of long human and plasmid DNA.

Thermo Scientific dATP (2'-deoxyadenosine 5'-triphosphate) is highly stable nucleotide, supplied as 100 mM aqueous solution titrated to pH 7.3-7.5 with NaOH. The nucleotide has greater than 99% purity, is free of nuclease activities, human and E. coli DNA. It is designed for many different molecular biology applications.

Highlights

• Greater than 99% purity confirmed by HPLC
• Free of human and E. coli DNA
• Highly stable

Application tested in:
• Long range PCR (40 kb)
• cDNA synthesis and RT-PCR
• Real-time PCR
• Standard PCR
• High fidelity PCR

Applications

• For use in all molecular biology applications, including PCR, real-time PCR, high fidelity and long PCR, LAMP-PCR, cDNA synthesis, RT-PCR, RDA, MDA, DNA labeling, and DNA sequencing.

Use this tool to design a custom DNA oligonucleotide, with any of a variety of 3' and 5' modifications, at scales ranging from 25 nmole to 10 µmole. Select desired purification method (normal or reversed-phase chromatography, HPLC, or PAGE).

Use this tool to design a custom DNA oligonucleotide, with any of a variety of 3' and 5' modifications, at scales ranging from 25 nmole to 10 µmole. Select desired purification method (normal or reversed-phase chromatography, HPLC, or PAGE).

Everything you need for SYBR® Green dye–based PCR amplification and detection in a convenient, single-tube format. Applied Biosystems® SYBR® Green PCR Master Mix combines SYBR® Green I dye, AmpliTaq Gold® DNA Polymerase, dNTPs with dUTP, Passive Reference 1, and optimized buffer in the convenience of a single vial.

• Premixed components stored at 2–8°C significantly reduce assay setup time
• SYBR® Green I dye detects double-stranded DNA, so specific probes are not required
• AmpliTaq Gold® DNA polymerase minimizes nonspecific product formation to achieve superior performance
• dUTP significantly reduces carryover contamination when used in conjunction with uracil-DNA glycosylase
• Proprietary buffer enhancements ensure performance and reliability

Maximum Flexibility and Convenience
Applied Biosystems® SYBR® Green PCR Master Mix provides maximum flexibility at reduced cost because no target-specific TaqMan® probes are required. SYBR® Green I dye is a double-stranded DNA binding dye that detects any double-stranded DNA generated during PCR. The hot-start enzyme AmpliTaq Gold® DNA Polymerase minimizes nonspecific product formation (including primer-dimers), yielding superior performance and sensitivity. Passive Internal Reference 1 is provided to normalize non-PCR–related fluorescence fluctuations. This minimizes well-to-well variability that can result from a variety of causes, such as pipetting error or sample evaporation. SYBR® Green I dye is ideal for target identification (screening assays) or when a limited number of assays is needed.

Alternative product
Try PowerUp SYBR Green Master Mix, our newest, high-performance, SYBR dye-based master mix for superior performance at a very competitive price. With PowerUp SYBR Green Master Mix, we’ve taken the best of SYBR Green PCR Master Mix and added additional capabilities for your gene expression analysis.