High-resolution CNV detection in up to 502 genes of interest
Accurate identification of CNVs, LOH, UPD and consanguineous samples
Integrated sample tracking probes and optimised labelling kits
Streamlined data analysis and interpretation of CNVs and LOH with complimentary Interpret NGS Analysis Software

Developmental delay (DD)/intellectual disability (ID), characterised by a significant impairment of cognitive and adaptive functions, affects 1–3% of the population, yet the majority of these patients remain undiagnosed. The aetiology of DD/ID is heterogeneous as it is influenced by both genetic and environmental factors. High-resolution G-banded karyotyping reveals chromosome abnormalities in 3–5 % of patients, and molecular cytogenetics, e.g. fluorescence in situ hybridisation (FISH), provides diagnosis in an additional 3–6% of cases. In the past few years, the application of aCGH and single-nucleotide polymorphism (SNP) arrays has revolutionised the clinical research of DD/ID. [1]

The CytoSure^® Constitutional v3 arrays deliver enhanced exon-level coverage of developmental disorder genes. They combine the up-to-date and relevant developmental delay content from the recent Deciphering Developmental Disorders (DDD) study and latest content from ClinGen. The addition of a research-validated collection of single-nucleotide polymorphism (SNP) probes with the CytoSure Constitutional v3 +LOH array enables precise identification of loss of heterozygosity (LOH) and uniparental disomy (UPD) in addition to accurate copy number (CN) detection. This offers cost-effective detection of a broader range of genetic syndromes – with no need for additional investment in equipment or training.

Ready to move your DD/ID research to the next level? Check our Constitutional NGS solution.

More details

Genomic DNA labelling kits

CytoSure Interpret Software

References

[1] Bartnik, M., Nowakowska, B., Derwińska, K. et al. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genetics 55, 125–144 (2014). https://doi.org/10.1007/s13353-013-0181-x

Disclaimer

CytoSure^®: for research use only, not for use in diagnostic procedures. Product availability may vary from country to country. Contact your local representatives for availability.

Manufacturer and Trademarks: CytoSure^® (Oxford Gene Technology IP Limited)

Technical specifications

Product	Cat. No.	Top priority genes	Medium priority genes	Lower priority genes	Decipher Syndrome regions	ClinGen regions	High priority backbone resolution	Medium priority backbone resolution	Lower priority backbone resolution
CytoSure Constitutional v3 (8x60k)	CYA0245	Exon targeted	Whole-gene targeted	Whole-gene targeted	Whole-gene targeted	Whole-gene targeted	189kb (1 probe every ~63kb)	375kb (1 probe every ~125kb))	663kb (1 probe every ~221kb))
CytoSure Constitutional v3 (4x180k)	CYA0246	Exon targeted	Exon targeted	Exon targeted	Whole-gene targeted	Whole-gene targeted	68kb (1 probe every ~22kb)	74kb (1 probe every ~ 24kb)	162kb (1 probe every ~54kb)
CytoSure Constitutional +LOH (4x180k)	CYA0247	Exon targeted	Whole-gene targeted	Whole-gene targeted	Whole-gene targeted	Whole-gene targeted	68kb (1 probe every ~22kb)	74kb (1 probe every ~24kb)	162kb (1 probe every ~54kb)

Table 1. Selection guide for CytoSure Constitutional v3 arrays. For a complete list of genes covered, please contact your local Sysmex representative.

CytoSure Interpret Software requirements:

Requirement	Minimum	Recommended
Memory (RAM)	16 GB	24 GB
CPU Cores	8	16
Storage (Disk space)	500 GB	2 TB
Operating System	Windows 7 or newer	Windows 7 or newer
Other	Virualisation (VT-x) to be enabled in the BIOS	Virualisation (VT-x) to be enabled in the BIOS