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The panel accurately detects SNVs and indels in genes such as CEBPA, JAK2, CALR and MPL, as well as structural variants including FLT3-ITDs and KMT2A-PTDs, and is able to detect low-frequency SNVs and indels with confidence. The figure (right) shows a PTD detection spanning exons 2-8 of the KMT2A gene.

The triple colour design of the Del(5q) Plus Tri-Colour Deletion Probe facilitates the detection of 5q interstitial proximal and distal deletions, in addition to monosomy 5 in AML and MDS analysis. The CytoCell CBFB Breakapart Probe, with its dual colour, dual fusion probe design, detects rearrangements in the 16q22 region and overcomes limitations associated with the proximity of signals on chromosome 16 during interphase FISH for AML detection.

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. 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 (left) shows a double deletion on the LDLR gene, as visualised by Interpret software.