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.

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Featured cytogenetic and rare disease products

NGS panels

CytoSure Constitutional NGS Image

CytoSure Constitutional NGS

A targeted >700-gene panel, minimizing 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 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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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 DiGeorge II (10p14) Image

CytoCell DiGeorge II (10p14)

The CELF2 probe is 144kb, labeled in red and covers a region including the D10S2196, D10S2420 and D10S1364E markers. The probe mix also contains a control probe for the chromosome 10 centromere (D10Z1), labeled in green.

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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 and rare disease resources

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