The EXaCT-1 assay provides an unbiased, exploratory view of more than 22,000 genes in both healthy and malignant cells, allowing molecular pathologists to find alterations in the cancer-development process in unexpected regions of an exome. This type of test, known as whole-exome sequencing, can be effective for advanced-stage patients for whom other treatments have failed because it reveals mutations that less comprehensive tests may not uncover. In practice, this means, for example, that a patient with bladder cancer, whom EXaCT-1 shows to share a mutation associated with breast cancer, might benefit from a drug typically prescribed to fight the latter type of tumor.
A surgical pathology and/or cytology report and completed requisition form must accompany all specimens.
For solid tumor malignancies, both a tumor sample and a normal blood sample are required. In the majority of cases, a blood draw can be scheduled through Epic and sent to the lab. However, for some patients, a different type of non-tumorous sample, such as a buccal swab, may be required.
For hematologic malignancies – including leukemia, myelodysplastic syndromes, myeloproliferative neoplasms, lymphomas and multiple myeloma – we require the following sample types:
Tumor requirements (select one of the following):
Normal (control) requirements (select one of the following):
EXaCT-1 was developed and tested in Englander Institute for Precision Medicine (EIPM) and NewYork-Presbyterian (NYP) Hospital laboratories. EXaCT-1 has not been approved by the Food and Drug Administration (FDA). The FDA has determined that such approval is not necessary. EXaCT-1 may be used for clinical purposes and should not be regarded as only experimental or investigative. The lack of a given genetic alteration in this report does not necessarily indicate the absence of the alteration in a tumor, as technical aspects of the assay, including inadequate coverage of specific genes, limit the data that can be acquired in certain genetic regions. Alterations that occur in the germ line are not reported. If a possible pathogenic (inherited) germ line mutation is suspected, counseling from a board-certified genetic counselor will be recommended.