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Your trusted partner in reproductive health research
Reproductive health research from past decades has led us to a better understanding of genetic risk factors, as an essential part of determining reproductive options for planning or growing a family. In addition many of the new molecular technologies are assisting clinical researchers in discovering and identifying many rare genetic diseases. Research today will lead to advances in knowledge and technology that will one day bring about improvements that will accelerate outcomes for families.
Find out how Thermo Fisher Scientific can assist you in your reproductive health research.
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In prenatal and postnatal genetic testing copy number variations (CNVs) are well-recognised genomic structural variants associated with genetic disorders. Chromosomal microarray analysis (CMA) successfully detects submicroscopic CNVs, and since 2010, is used as a first-tier test for the detection of CNVs related to intellectual disability, developmental delay, autism spectrum disorders, and congenital abnormalities.
Discover what matters in prenatal and postnatal genetic testing in two white papers:
Chromosomal microarrays: next-generation karyotyping assays for detecting inherited chromosomal anomalies
- The development and use of chromosomal microarrays for analysing chromosomal anomalies
- The benefits of using chromosomal microarrays over traditional G-band karyotyping
- Case studies of instances where chromosomal microarrays detected anomalies that were missed by G-banding
Download white paper
The power of high-resolution SNP arrays for detecting inherited chromosomal anomalies
- The benefits of using SNP arrays over other types of arrays
- Case studies of instances where SNP arrays detected anomalies that gave rise to developmental defects
Benefits of using Ion Torrent NGS for comprehensive PGT
- Comprehensive results from a single sample and integrated NGS workflow—with the combined PGT-A and PGT-M solutions
- Accessible NSG regardless of experience, with simple, integrated analysis tools—customisable analysis from Ion Reporter Software for aneuploidy calling and PGD-SEQ linkage analysis software for comprehensive familial carrier status
- Economic in-house PGT solution that grows with your business—Ion chip technology addresses variable throughput needs to cost-effectively process PGT-A and PGT-M samples on the same system without the need to outsource
- Rapid workflow for time-sensitive samples—go from sample to results in less than 12 hours
Learn about PGT from key opinion leaders in the field
Adam Goodman
Director of Preimplantation Genetics, NxGen MDx
Implementing pan-ethnic, expanded carrier screening (ECS) research in your lab is easier than ever with the Ion Torrent CarrierSeq ECS kits and Carrier Reporter Software for the Ion GeneStudio S5 System. This NGS-based end-to-end solution includes rigorously designed targeted content for genetic analysis, optimised reagents for peak performance, and intuitive data analysis software tools for simple implementation without the need for expert-level bioinformatics resources
Key benefits
- Increase carrier status detection rates for researching a broad range of inherited disorders
- Consolidate stand-alone assays to improve lab efficiency
- Simplify adoption and implementation in your lab with this end-to-end solution
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For Research Use Only. Not for use in diagnostic procedures.
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