Therapy-related myeloid neoplasms (t-MN), which comprise therapy-related acute myeloid leukemia, myelodysplastic syndrome, and myelodysplastic/myeloproliferative neoplasms, are a late complication of cytotoxic therapy used in the treatment of both malignant and non-malignant diseases. t-MN is rare, although it can occur with a high frequency in certain types of cancer, namely breast cancer and non-Hodgkin lymphoma. Germline variants in DNA damage response pathways, such as BRCA1, BRCA2 and TP53, as well as other cancer susceptibility genes have been associated with an increased risk of t-MN. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.  

6 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA
Additional Information 
Peripheral blood samples are not accepted for patients with a history of MDS/leukemia. Please send 2 T25 flasks of cultured fibroblasts instead.
Variants within exon 15 of the PMS2 gene may not be analyzed or reported due to homology issues. Due to high homology, the sensitivity of this assay may be reduced in exon 2 and exons 12-15 of PMS2.