Details & Data

Current methods to study multiple variants of myeloid malignancies are time-consuming, expensive and may not determine the underlying genetic cause of the disease. Additionally, low copy number variants for early detection can be missed in patient samples. RareSeq™ solves this problem by error correcting the NGS results to identify true genetic variants that in the past would have been misclassified as an error.

RareSeq™ error corrected sequencing is a proprietary UMI strategy combined with a custom bioinformatics analysis which allows for ultrasensitive variant detection. The bioinformatics alignment of the UMIs allows for more accurate allele quantitation as well as increased sensitivity for variant detection. For more information on how RareSeq™ works to error correct sequencing data, click here.

The TruSight® Myeloid panel from Illumina targets 54 genes known to be frequently mutated in myeloid malignancies providing a comprehensive assessment of disease development and progression in leukemia and myeloproliferative disorders such as:

• Acute myeloid leukemia (AML)
• Myelodysplastic syndrome (MDS)
• Myeloproliferative neoplasms (MPN)
• Chronic myelogenous leukemia (CML)
• Chronic myelomonocytic leukemia (CMML)
• Juvenile myelomonocytic leukemia (JMML)

This panel is comprised of a highly optimized oligo pool specific for researching genomic changes associated with tumor suppressor genes and oncogenic hotspots in hematologic malignancies. Features include ~141 kb of genomic content, consisting of 568 amplicons of ~250 bp in length; an oligo pool targeting 15 full genes (exons only), plus exonic hotspots of an additional 39 genes, providing nearly 100% coverage of all targeted regions.