Variantyx Expands into Germline Hematologic Cancer Testing with Two New Tests

• By Variantyx
• Posted in New & Updated Tests

We have expanded our clinical testing portfolio with the launch of two new germline assays designed to address the unique challenges of hematologic cancer testing.

OncoAlly^® Hereditary Hematologic Cancer Analysis provides targeted analysis of 110 genes associated with lymphoid and myeloid malignancies.

Genomic Unity^® Pediatric Hematologic Disorders Analysis takes a similar approach for rare disease patients, providing targeted analysis of 140 genes associated with hereditary hematologic malignancies, bone marrow failure syndromes, and immunodeficiency disorders.

Both tests are powered by our whole genome sequencing (WGS) platform which sequences the entire gene (including intronic and regulatory regions), enabling detection of all clinically relevant variant types. In addition to small sequence changes, the assays reliably identify structural variants, including exon-level and large copy-number variants, mobile element insertions (MEIs), and inversions – variant classes that are often missed by panel or exome testing.

Notably, these tests introduce support for skin biopsy sampling. In hematologic cancers, blood and saliva samples are often compromised by malignant cells or clonal hematopoiesis. Current best practices therefore recommend a non-hematologic DNA source, such as skin-derived fibroblasts, to ensure accurate germline interpretation. Our validated skin biopsy workflow is designed to support this standard of care.

The clinical importance of germline testing in hematologic malignancies is recognized as an increasing proportion of individuals with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) are shown to carry deleterious germline variants, some of which (for example, DDX41) have direct therapeutic implications^1-3. Equally important, comprehensive germline testing can facilitate safer transplants, screening out donors who carry predisposing variants, as well as inform proactive risk management for family members, enabling early detection. 

With this menu expansion, clinicians and genetic counselors now have access to a pair of tests that uniquely address the challenges of hematologic cancer testing.

Learn more about: 

• OncoAlly^® Hereditary Hematologic Cancer Analysis
• Genomic Unity^® Pediatric Hematologic Disorders Analysis

References

1. Godley LA et al. Am Soc Clin Oncol Educ Book. 2024;44(3).
2. Yang et al. Blood. 2022;139(8):1208-1221.
3. Churpek et al.  Blood. 2015;126(22):2484–2490.