ChomoSeq is an advanced diagnostic assay, based on whole genome sequencing (WGS) that provides a comprehensive genomic assessment of newly diagnosed patients with myeloid malignancies (AML and MDS). ChromoSeq differs from other ‘gene panel’ based approaches because it uses an unbiased, high-coverage, tumor-only approach that is capable of identifying chromosomal translocations, copy number alterations, and single nucleotide variants.

ChromoSeq was developed at the Washington University School of Medicine by Eric Duncavage, MD, David Spencer, MD, PhD, and Molly Schroeder, PhD. The research and development were supported in part by funding through grants from the National Center for Advancing Translational Sciences and Alvin J. Siteman Cancer Research Fund.

ChromoSeq FAQ

Is ChromoSeq CAP/CLIA validated and can it be used for patient care?

Yes. ChromoSeq is run through the Department of Pathology and Immunology’s CAP/CLIA accredited Core Laboratory in conjunction with the Clinically Licensed Environment at the McDonell Genome Institute

Is ChromoSeq the same as mate pair sequencing or ‘low pass’ WGS?

ChromoSeq uses standard WGS library preparation methods and does not rely on the generation of mate pairs. ChromoSeq targets 60x mean coverage across the genome and is a ‘high coverage’ WGS-approach.  

Can ChromoSeq identify novel chromosomal rearrangements?

ChromoSeq is intended to identify recurrent genomic abnormalities in myeloid malignancies and is not intended for discovery. The ChromoSeq informatics are designed to report 612 recurrent structural alterations, however additional novel chromosomal rearrangements may be reported subject to confirmation on a case by case basis.

Does ChromoSeq require paired normal tissue?

No. ChromoSeq is a ‘tumor-only’ assay.  Somatic status of detected variants including structural variants is imputed using publicly-available population data.

Can ChromoSeq detect inherited variants?

No. ChromoSeq is intended to detect somatic variants and cannot distinguish between inherited and somatic variants.

Can ChromoSeq be run on cases where conventional cytogenetics failed?

Yes. ChromoSeq does not require the culture of live cells like cytogenetics and may be run from archival DNA samples obtained from fresh blood or marrow.

Can ChromoSeq replace conventional cytogenetics?

ChromoSeq can recreate karyotype level data typically obtained by G-banded metaphase cytogenetics. Published performance data indicates that ChromoSeq is more sensitive than cytogenetics to detect some recurrent abnormalities.

When will ChromoSeq be available for clinical use?

We anticipate that ChromoSeq will launch in the Barnes Jewish Hospital system in March 2021. Service will be subsequently expanded to external clients in the coming months. To receive updates on ChromoSeq launch status please register here.

How is ChromoSeq billed and is ChromoSeq testing covered by insurance?

ChromoSeq is billed under CPT code 81479. We are currently working with all insurance companies, including Medicare (MolDX), to establish coverage indications and reimbursement rates.