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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2023 top cytogenetics and rare disease NGS panels

CytoSure Constitutional NGS Image

CytoSure Constitutional NGS

A targeted >700-gene panel, minimising variants of uncertain significance (VUS) detection, and delivering CNV analysis down to single-exon level and loss of heterozygosity (LOH) as well as SNV and indel detection, all in a single assay. The figure (above) shows a 3.98Mb deletion on chromosome 6. The B allele plot (Panel 1) and the CNV ratio result (Panel II) are both shown.

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CytoSure Comprehensive FH Panel Image

CytoSure Comprehensive FH Panel

Familial Hypercholesterolaemia (FH) is a genetic condition which results in a high cholesterol level and subsequently leads to a higher risk of early heart disease. It affects approximately 1 in 250 people with around 34 million cases worldwide. 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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2023 top cytogenetics and rare disease 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 SRY Image

CytoCell SRY

The SRY probe, labelled 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), labelled in blue, and for chromosome Y (DYZ1, the heterochromatic block at Yq12), labelled in green.

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2023 top cytogenetics and rare disease arrays

CytoSure Constitutional v3 and v3 +LOH Image

CytoSure Constitutional v3 and v3 +LOH

Offering 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. Data generated using the CytoSure Constitutional v3 (8x60k) array.

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CytoSure Medical Research Exome Image

CytoSure Medical Research Exome

A highly targeted exon-focused array capable of detecting medically relevant microdeletions and microduplications. This array has been developed in collaboration with leading molecular genetics experts at Emory University and makes an ideal complement to an exome sequencing approach, providing a comprehensive mutation spectrum analysis in rare disease. 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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Featured cytogenetics & rare disease resources

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