Critical chromosome breakage testing available at BIDMC Pathology Department

The Pathology Department Cytogenetics Laboratory has brought in-house the ability to provide critical chromosome breakage testing for Fanconi Anemia (FA), previously established at Dana-Farber Cancer Institute and Children’s Hospital. In June, the lab tested a sample from its first patient. “The introduction of this gold standard diagnostic test for Fanconi anemia in department of pathology, represents a critical advancement in our ability to diagnose this rare devastating disease,” said Sean Xu, MD, PhD, director of Molecular Hematopathology. “The initiative reflects a strong collaboration between BIDMC and Dana-Farber Cancer Institute—working together to bring cutting-edge tools directly to patient care. For the hospital, it not only enhances our clinical capabilities but also helps us retain patients by offering a seamless, end-to-end cancer care experience within our system.”

The Pathology Department is one of the few laboratories in the country to have this expertise in diagnosing the disease. The lab includes testing, diagnostics, evaluation, and collected data. Often affecting children and teens, FA is characterized by multiple physical abnormalities, bone marrow failure, and a higher risk of cancer. Normally proteins produced by genes form a kind of cellular “machine” that helps detect and repair damaged DNA in blood stem cells (in bone marrow) and other cells in the body. In FA, DNA repair is slowed, and blood stem cells accumulate damaged DNA and do not survive.

In addition to testing, the BIDMC FA reference center will also provide both diagnostic and consultative services for new and known patients with FA. Although the test is provided for pediatric patients, the BIDMC Cancer Center will be able to provide extraordinary care and the best therapies to these patients throughout their adult life, including first diagnosis, post treatment, and post transplantation.

Transitioning the FA lab to BIDMC is just one of many testing expansions the Pathology Department has implemented in the past year. “We are continuing to build our Precision Diagnostics program,” said Pathology Department Chair Michael H.A. Roehrl, MD, PhD, MBA. “Every several months we are bringing online new next generation sequencing testing, helping our patients get diagnosed more quickly so they can start treatment sooner.” For more information about the FA lab, contact Annie Cheng at [email protected]. or go to the BIDMC Clinical Pathology Cytogenetics page.