Understanding genetic alterations in inherited disorders

No single technology is suitable for profiling every type of genetic aberration — instead, researchers can develop a more complete picture of genomic variation by utilizing a range of technologies in parallel. OGT offers an integrated portfolio of products providing clinical researchers with the most advanced tools available to study inherited disease.

Our class-leading products are designed for the robust identification of the whole range of genomic variation, through CytoSure® array and NGS products and CytoCell® pre-natal and microdeletion fluorescence in-situ hybridization (FISH) probes. Custom product capabilities are also available.

Featured products

NGS panels

CytoSure Constitutional NGS Image

CytoSure Constitutional NGS

The CytoSure Constitutional NGS solution delivers CNV analysis down to single-exon level as well as loss of heterozygosity (LOH) and SNV and indel detection - all in a single assay. The figure (above) shows a 3.98Mb deletion on chromosome 6.

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CytoSure Comprehensive FH Panel Image

CytoSure Comprehensive FH Panel

OGT is offering an optimized NGS panel which has selected the most relevant genes and SNPs implicated in FH, for your research needs. The figure (above) shows a double deletion on the LDLR gene, as visualized by Interpret software.

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Arrays

CytoSure Constitutional v3 and v3 +LOH Arrays Image

CytoSure Constitutional v3 and v3 +LOH Arrays

CytoSure Constitutional v3 arrays offer enhanced exon-level CNV coverage of developmental disorder genes and reliable detection of loss of heterozygosity, all on a single array. The figure (above) shows the accurate detection of a small, single-exon (<500bp; 4 probes) duplication in MID1 associated with Opitz-G syndrome.

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CytoSure Medical Research Exome Array Image

CytoSure Medical Research Exome Array

The CytoSure Medical Research Exome Array is a highly targeted exon-focused array capable of detecting medically relevant microdeletions and microduplications. The figure (above) shows [A] a small duplication of 1.4kb in the DMD gene and [B] a very small 684bp deletion in the TRPM1 gene.

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FISH probes

CytoCell DiGeorge/VCFS TUPLE1 Region and 22q13.3 Region Image

CytoCell DiGeorge/VCFS TUPLE1 Region and 22q13.3 Region

The TUPLE1 probe is 113kb, labeled in red, and covers most of the TUPLE1 (HIRA) gene. The N85A3 (44kb) probe, labeled in green, is located within 22q13.3 and covers the telomeric end of the SHANK3 gene, allowing for identification of the most distal 22q13.3 deletions. The two unique sequences provide control probes for each other and allow identification of chromosome 22.

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CytoCell SRY Image

CytoCell SRY

The SRY probe, labeled in red, consists of two non-overlapping probes, 30kb and 50kb. The probes cover the entire SRY gene and flanking DNA, including the RPS4Y1 gene. The probe mix also contains control probes for the X centromere (DXZ1), labeled in blue, and for chromosome Y (DYZ1, the heterochromatic block at Yq12), labeled in green.

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Featured cytogenetics & rare disease resources

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Have a question or want to know more about our cytogenetics & rare disease products?

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