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 utilising 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 hybridisation (FISH) probes. Custom product capabilities are also available.

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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 optimised 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 visualised 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-focussed 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 FAST FISH Prenatal X, Y, 13, 18 and 21 Image

CytoCell FAST FISH Prenatal X, Y, 13, 18 and 21

The FAST FISH Prenatal kit allows detection of trisomies 13, 18 and 21 (Patau, Edwards and Down syndromes) and sex chromosome aneuploidies utilising a 2 hour hybridisation protocol.

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CytoCell DiGeorge/VCFS TUPLE1 and 22q13.3 Deletion Syndrome Probe Combination Image

CytoCell DiGeorge/VCFS TUPLE1 and 22q13.3 Deletion Syndrome Probe Combination

The TUPLE1 probe is 113kb, labelled in red, and covers most of the TUPLE1 (HIRA) gene. The N85A3 (44kb) probe, labelled 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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Featured cytogenetics & rare disease resources

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

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