Diagnostic genetics services at Boston Medical Center provide expertise in the diagnosis and evaluation of genetic and developmental disorders for patients, including:

  1. Management of genetic-based conditions in adult, pregnant and pediatric patients
  2. Access to Molecular and Cytogenetic testing
  3. Rapid, direct communication with referring physicians

Below, are the available diagnostic genetic services and corresponding contact information.

Diagnostic Genetic ServicesPhone Number
Adult Genetics617.414.4841
Amyloidosis Center617.358.4750
Prenatal Genetics617.414.2000
Cancer Genetics617.638.6428
Pediatric Genetics617.414.4841

Specialty Clinics

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 
neil.oneill@bmc.org, 617.414.473

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)

Residency and Fellowship Information

Boston University Chobanian & Avedisian School of Medicine offers a Master of Science degree in Genetic Counseling. For more information about the curriculum, faculty, research, and graduate experience, please visit our website