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 Services Phone Number
Adult Genetics 617.414.4841
Amyloidosis Center 617.358.4750
Hematology 617.414.1024
Prenatal Genetics 617.414.2000
Cancer Genetics 617.638.6428
Pediatric Genetics 617.414.4841
Diagnostic Molecular Genetics Laboratory Services 617.414.3701
Microbiology Molecular Diagnostics 617.414.4737

Adult Genetics

Medical geneticist Jodi Hoffman, MD and the genetics team management services for adults who have inherited disorders, genetic conditions, or birth defects. Patients seen in this clinic often have connective tissue disorders (Marfan syndrome and Ehlers Danlos syndrome, etc) as well as neurofibromatosis types 1 and 2, tuberous sclerosis, Down syndrome, rare cancer syndromes, and others. Consultations are provided in the Yawkey Ambulatory Care Clinic, 6th floor. NOTE: This is the same location as pediatric genetics.

For an appointment call 617.414.4841 or fax 617.414.5741

Contáctenos

Clínicas Especializadas

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. 

Genética del cáncer

En el BMC Cancer Center, los asesores genéticos brindan consultas, evaluaciones de riesgo y pruebas de síndromes de predisposición al cáncer para personas que tienen antecedentes personales o familiares importantes de ciertos tipos de cáncer.

Amyloidosis Center

Boston Medical Center is an international referral center for the diagnosis and treatment of amyloidosis, a rare group of diseases caused by the abnormal accumulation of the protein amyloid in various parts of the body. This can occur as part of a bone marrow plasma cell disorder (AL), as a hereditary form (AF), an age-related form (senile systemic amyloidosis due to ATTR), or secondary to chronic inflammatory or infectious diseases (AA).

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.

Prenatal

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

Pruebas de enfermedades genéticas judías

En el Programa judío de detección de enfermedades genéticas del Boston Medical Center, se ofrecen pruebas de detección previas a la concepción y asesoramiento genético a quienes tienen un mayor riesgo de transmitir ciertos trastornos genéticos a sus hijos.

Nuestro Equipo

Geneticists

Jodi D Hoffman, MD

Chief, Section of Genetics, Department of Pediatric Genetics
Associate Professor, Boston University School of Medicine

Special Interests

Pediatric genetic syndromes, Jewish genetic diseases, Adult genetic conditions, Malformation syndromes, Cancer syndromes

Clinical Genetics - Licensed Genetic Counselors

Philip D. Connors, MS, CGC
Assistant Professor, Department of Obstetrics and Gynecology, BUSM

617.414.2000

Special Interests: Prenatal Genetics, Cancer Genetics, Genetic Counseling

Lillian Sosa, MS, CGC
Assistant Professor, Department of Obstetrics and Gynecology, BUSM

617.414.2000

Special Interests: Prenatal Genetics, Genetic Counseling

Claire Hacking, MS

617.638.6428

Special Interests: Cancer Genetics, Genetic Counseling

Tamsen Brown, MS, CGC

617.638.6428

Special Interests: Cancer Genetics, Genetic Counseling

Additional Information

Información Sobre Residencia y Becas

Genetic Counseling Training & Education

Boston University 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

For additional questions, please contact Kathleen Berentsen Swenson at 617.638.7170 or email: [email protected].