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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 IGK Breakapart probe consists of a 183kb probe, labeled in red, covering a part of the distal IGK Variable region and a green probe, covering a 606kb region including the D2S2216 and D2S2510 markers which is telomeric to the Joining segments and the Constant segment of IGK. The IGL product consists of a 278kb probe, labeled in red, centromeric to the IGL Variable region and covering the MAPK1 gene, and a green probe, covering a 307kb region telomeric to the IGL Constant segment, including the BCR gene.

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.