Genetic Services

BMC’s Genetic Services provides testing for genetic disorders, condition management, genetic counseling, and care coordination with your physician to ensure that you get the proper diagnosis and treatment.

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Diagnostic Genetic Services at Boston Medical Center provides 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

For referrals to BMC Genetics, please complete our Genetics Referral Form and return it via fax to 617.638.6756.

BMC Genetics Referral Form (MS Word)

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

Diagnostic Genetic ServicePhone 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 Genetics
Tom.Maher2@bmc.org / 617.414.5312

Tissue-Based Diagnostic Molecular Pathology (DMP)

Michael O’Brien, MD — Chief of Anatomic Pathology
Shi Yang, MD, Scientific Director

Tissue-Based DMP Laboratory Requisition Form (PDF)

Microbiology Molecular Diagnostics

Nancy Miller, MD — Medical Director of Microbiology
Nancy.Miller@bmc.org

Chris Andry, PhD — Administrative Director and Vice Chair of Pathology Operations & Management 
Chris.Andry@bmc.org

Neil O’Neill — Senior Manager of Laboratory Medicine Operations 
Neil.ONeill@bmc.org / 617.414.4737

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

The Boston University Chobanian & Avedisian School of Medicine offers a Master of Science (MS) in Genetic Counseling. For more information about the program’s curriculum, faculty, research, and graduate experience, please visit the program website.