This technology is a pair of complementary cell-based and cell-free DNA genetic panels that simultaneously detect germline and somatic variants to diagnose primary Lymphatic Anomalies (LAs).
Currently, there is no comprehensive LA panel— diagnosis of primary LAs relies on fragmented commercial and academic panels with limited gene coverage, detecting either germline or somatic variants. This forces sequential testing across incomplete panels and leaves more than two-thirds of LA patients without an identified pathogenic variant or incomplete genetic diagnosis. Patients often receive a diagnosis only after years of disease progression and most never receive an identified pathogenic variant delaying precision medicine guided therapies for a progress disease.
The technology consists of two complementary next-generation sequencing panels that query a comprehensive set of genes associated with primary LAs for germline and somatic variants in a single workflow. The cell-based panel accepts blood and tissue specimens, while the cell-free DNA panel accepts lymphatic fluid and plasma, enabling diagnostic access in fetal, pediatric, and tissue-limited clinical settings where lesional biopsy is not feasible. Both panels have been developed with greater than 1000-fold sequencing coverage across all exons. Analytical validation is currently underway using patient DNA and cell-free DNA, and clinical validation is being conducted across CLARUM partnered institutions.
Carrie Shawber, Ph.D.; Hakon Hakonarson, M.D., Ph.D.
Hakonarson, H. et. al. Compositions and methods for the diagnosis and treatment of lymphatic system disorders. 2022. US Patent No. 11,401,553
