Germline

A range of library preparation kits specifically designed for detecting chromosomal abnormalities including SNVs, indels and CNVs in a single workflow.

Traditional methods for comprehensively assessing the chromosomal abnormalities associated with constitutional disorders have required laboratories to implement several workflows from FISH and karyotyping to MLPA and arrays.

That’s why Nonacus have developed library preparation solutions for Next Generation Sequencing (NGS) that offer you the chance to consolidate these workflows into a single assay. Combining the analysis of SNVs, indels and CNVs enables you to save time and resources and still deliver a comprehensive report on constitutional abnormalities from a single workflow.

Constitutional genetics panels

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Whole Exome Panel

Optimize your sequencing efficiency with our Cell3 Target: Whole Exome Enrichment panel.

By capturing 33Mb of highly-conserved protein-coding regions and 99% of ClinVar variants, you can focus on the most relevant genomic content while reducing sequencing costs.

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Cell3 Direct: Fetal RhD Genotyping

The first 'direct from plasma' non-invasive prenatal test for fetal Rhesus D (RhD) genotyping. With no cffDNA extraction required, Cell3 Direct reduces costs and saves time in fetal Rhesus D diagnosis. Targeting sequences specific for exons 5, 7 and 10 of the RhD gene, this kit can distinguish between RhD positive, negative and Psi genotypes in cffDNA.

Resources

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Publications

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Protocols

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Panel Design Tool

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