Product Description
| Brand |
Thermo Fisher Scientific |
| Product Type |
Sequencing Kit |
| Pack Size |
96 reactions |
| CAT No |
A43471 |
| Application |
Molecular Biology |
The Ion AmpliSeq CarrierSeq ECS Panel enables detection of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) associated with 418 inherited disorders in a single assay. It is included in the Ion Torrent CarrierSeq ECS kits, which provide all of the reagents and materials necessary for a comprehensive, seamless, and flexible next-generation sequencing (NGS) workflow for expanded carrier screening (ECS). When used with an Ion GeneStudio S5 System, the kits enable a simple, end-to-end workflow for the detection of carrier-positive samples by research labs interested in maximizing the identification of carrier status using genomic DNA isolated from blood or saliva samples.
Comprehensive Carrier Screening SolutionThis ECS panel covers up to 421 clinically relevant genes for recessive disorders, allowing laboratories to conduct thorough preconception and prenatal carrier screening. Its inclusivity supports broader and more informed risk assessment for patients planning families.
Efficient, Automated NGS WorkflowThe panel leverages Ion AmpliSeq Next-Generation Sequencing (NGS) technology for rapid library preparation, amplification, and data generation. The optimized workflow delivers results in under 24 hours, maximizing laboratory throughput and minimizing hands-on time.
User-Friendly and Compatible DesignDesigned exclusively for Ion Torrent systems, this panel uses minimal DNA input from blood or saliva, making sample collection convenient. It is easy to implement in the laboratory, as the kit comes with comprehensive reagents and clear storage instructions for optimal shelf life.
FAQ's of Thermo Fisher Scientific Ion Torrent Ion AmpliSeq CarrierSeq ECS Panel:
Q: How is the Ion AmpliSeq CarrierSeq ECS Panel used in the laboratory?
A: The panel is used by extracting genomic DNA (10-30 ng) from blood or saliva, preparing libraries using Ion AmpliSeq technology, sequencing on compatible Ion Torrent instruments (GeneStudio S5, Ion PGM, Ion S5), and analyzing digital output (FASTQ, BAM, VCF files) for carrier status.
Q: What types of genetic disorders can be detected with this ECS panel?
A: This panel targets up to 421 genes associated with a wide range of recessive genetic disorders, covering conditions relevant for preconception and prenatal carrier screening.
Q: When should this panel be used during the carrier screening process?
A: It is ideal for both preconception and prenatal stages when assessing hereditary risk for recessive disorders. It can be used at any point where genomic DNA can be extracted from a patient's blood or saliva sample.
Q: Where is the Ion AmpliSeq CarrierSeq ECS Panel typically implemented?
A: This panel is intended for use in research laboratories equipped with Ion Torrent instruments, such as clinical research labs or genetic testing facilities. It is not designed for diagnostic procedures.
Q: What is the process from DNA sample to data output with this panel?
A: After extracting DNA from blood or saliva, libraries are prepared using the kit, loaded onto an Ion Torrent instrument, and sequenced. The resulting data are generated in under 24 hours and provided in digital formats (FASTQ, BAM, VCF) for downstream analysis.
Q: What are the benefits of using this panel for carrier screening?
A: Benefits include high analytical sensitivity and specificity (>99%), rapid turnaround time, the ability to screen multiple genes simultaneously, and automated workflows that require minimal manual intervention, supporting labs in large-scale ECS applications.
Q: How should the panel be stored to maintain its shelf life?
A: Store the kit at -20C as per the manufacturer's guidelines. When this storage instruction is followed and the kit remains unopened, its shelf life is up to 12 months.