Diagnostic genetics services at Boston Medical Center provide expertise in the diagnosis and evaluation of genetic and developmental disorders for patients, including:
- Management of genetic-based conditions in adult, pregnant and pediatric patients
- Access to Molecular and Cytogenetic testing
- Rapid, direct communication with referring physicians
Below, are the available diagnostic genetic services and corresponding contact information.
|Diagnostic Genetic Services
Boston Medical Center is an international referral center that provides multi-disciplinary diagnosis and treatment of all types of amyloidosis, a rare group of diseases.
Patients with blood disorders receive consultation and treatment for a broad range of benign conditions, such as hemoglobinopathies (sickle cell anemia and thalassemia), hemochromatosis, bleeding and thrombotic disorders (von Willebrand's disease and hemophilia), hypercoagulable states, myeloproliferative disorders, myelodysplasia and anemia, and malignancies such as leukemia, lymphoma and myeloma.
Pediatrics - Genetics
Diagnostic Molecular Genetics Laboratory Services
Tom Maher, MS, Laboratory Manager of Diagnostic Molecular GeneticsTom.Maher2@bmc.org: 617.414.5312)
Tissue Based Diagnostic Molecular Pathology (DMP)
Michael O’Brien, MD – Chief Anatomic Pathology
Shi Yang, MD, Scientific Director
Download Tissue Based DMP Requisition Form
Microbiology Molecular Diagnostics
Nancy Miller, MD, Medical Director, Microbiology
Chris Andry, PhD, Administrative Director and Vice Chair for Pathology Operations and Management
Neil ONeill, Senior Manager for Laboratory Medicine Operations
All molecular genetics testing at BMC should be processed via the BMC Laboratory. BMC uses Quest Diagnostics as a reference laboratory and performs some testing in house. Quest Diagnostics' highly trained geneticists and genetic counselors are available at 1.866.GENE.INFO, (1.866.436.3463)