Genetic Services | Boston Medical Center

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	Phone Number
Adult Genetics	617.414.4841
Amyloidosis Center	617.358.4750
Prenatal Genetics	617.414.2000
Cancer Genetics	617.638.6428
Pediatric Genetics	617.414.4841

Clínicas Especializadas

Genética adulta

Los servicios de administración del equipo de genética para adultos que tienen trastornos hereditarios, condiciones genéticas o defectos de nacimiento.

Amyloidosis Center

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.

Genética del cáncer

En el BMC Cancer Center, los asesores genéticos brindan consultas, evaluación de riesgos y pruebas de síndromes de predisposición al cáncer para personas que tienen antecedentes personales o familiares importantes de ciertos tipos de cáncer. Las visitas comienzan con una revisión de la información médica del paciente y de sus antecedentes familiares detallados para determinar si una predisposición hereditaria al cáncer puede estar aumentando el riesgo de ciertos tipos de cáncer en la familia de una persona.

Hematology

Los pacientes con trastornos de la sangre reciben consulta y tratamiento para una amplia gama de afecciones benignas, como hemoglobinopatías (anemia falciforme y talasemia), hemocromatosis, trastornos hemorrágicos y trombóticos (enfermedad de von Willebrand y hemofilia), estados de hipercoagulabilidad, trastornos mieloproliferativos, mielodisplasia y anemia y neoplasias como leucemia, linfoma y mieloma.

Pediatrics - Genetics

Medical geneticist Jodi Hoffman, MD and the genetic team provide diagnostic and management services for children who are likely to have inherited disorders, genetic syndromes, or birth defects.

Prenatal

El equipo de genética prenatal brinda atención a las mujeres que actualmente están embarazadas o que están planeando un embarazo.

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
nancy.miller@bmc.org

Chris Andry, PhD, Administrative Director and Vice Chair for Pathology Operations and Management
chris.andry@bmc.org

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)

Información Sobre Residencia y Becas

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.