Inherited Disease
No limits to panel size combined with the flexibility to add content with ease.
Understanding inherited disease
Inherited diseases are genetic disorders that are passed down from either one or both parents. While individually genetic disorders are classified as rare with a prevalence of <1 in 2000 individuals,1 collectively, rare genetic disorders are estimated to affect about 300 million people worldwide.2
According to OMIM® (Online Mendelian Inheritance in Man, accessed 23 November 2022 3 ), there are more than 7200 phenotypes for which the molecular basis is known and >6200 of these are due to single gene disorders and traits. With continued advances in genetic discovery, accelerated by improvements in next-generation sequencing technologies, this list and our understanding of rare genetic disease will continue to grow.
Customizable and tunable NGS solutions
The Molecular Loop targeted sequencing technology is an ideal solution for inherited disease research. Our simple, elegant workflow, coupled with customizable panels interrogating the region of interest, can help accelerate genetic discovery in every lab. We create focused panels to interrogate genes suspected to be associated with a specific genetic disorder, or broad pan-ethnic panels targeting a large number of genes with the ability to add content as needed.
- https://www.ajmc.com/view/not-so-rare-300-million-people-worldwide-affected-by-rare-diseases
- https://doi.org/10.1016/j.ajhg.2017.04.003
- https://www.omim.org/statistics/geneMap
Make the panel your own
We offer the flexibility of adding content to an existing panel, with the confidence that the coverage of biomarkers in the initial panel will not be altered
Spiking in ~1 Mbp of content to a 360 SNP panel does not impact the coverage and ability to call variants within the initial 360 SNPs, offering users the flexibility to add content as new informative biomarkers arise.
Exceptional performance with high on-target rates and excellent coverage
96% on-target with first pass design of a 1 Mbp panel. No optimization required to cover 339 full genes including 5′ UTRs. 43,500+ probes in a single tube.
≥100X coverage depth across >98% of target bases with 11.7M read pairs per sample.
