Genetic Services

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.

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

Amyloidosis Center

For more information, please call: 617.638.4317

Hematology

Center of Excellence in Sickle Cell Disease
Hemoglobin Diagnostic Reference Laboratory
For more information, please call: 617.414.1024.
Medical Director: David Chui, MD

Prenatal Services

Jodi Abbott, MD
Robert Blatman, MD
Philip Connors, MS, CGC
Aviva Lee-Parritz, MD
Glenn Markenson, MD
Lillian Sosa, MS, CGC
Christina Yarrington, MD

For an appointment, call 617.414.2000
Antenatal Testing Unit: Yawkey 5th Floor

Cancer Genetics

Our certified genetic counselors provide consultation and testing for cancer predisposition syndromes for people who have a strong personal or family history of certain types of cancer. Identifying a genetic cause for cancer in a family allows for increased surveillance and earlier detection for at risk family members. The team works with testing companies and insurance to obtain coverage for this testing. Consultations are provided in the Moakley Building, 3rd floor, at 830 Harrison Ave.

For an appointment call: 617.638.6428
Referrals can be faxed to: 617.414.1558

Pediatric Genetics

Medical geneticist Jodi Hoffman, MD and the genetics team provide diagnostic and management services for children who are likely to have inherited disorders, genetic syndromes, or birth defects. Children with unusual physical characteristics, developmental days, autism, or atypical growth are often referred for a genetics evaluation to determine if a genetic condition could explain the constellation of features. A diagnosis may provide information important for future health management as well as connections with support groups, research opportunities, and other families who have children with related conditions. Consultations are provided in the Yawkey Ambulatory Care Clinic, 6th floor.

For an appointment call 617.414.4841 or fax 617.414.5741
More information

Prenatal Genetics

Certified genetic counselors Philip Connors and Lillian Sosa provide consultation and counseling in the antenatal unit at Boston Medical Center to women who are pregnant or considering a pregnancy. Reasons for visits include advanced maternal age, abnormal nuchal translucency or maternal serum screening, medication exposures, carrier status, and family history. Clinic is held in Boston Medical Center’s Antental Center, Yawkey 5th Floor.

For an appointment call 617.414.2000 or fax 617.414.7657
More information

For more information:

• Ethnic Based Screening
• Jewish Screening
• Prenatal Genetic Counseling

Diagnostic Molecular Genetics Laboratory Services

Raveen Basran, D.Phil. Director of Diagnostic Molecular Genetics ([email protected]: 617.414.3701)
Tom Maher, MS, Laboratory Manager of Diagnostic Molecular Genetics ([email protected]: 617.414.5312)
Dan Remick, MD – Medical Director, Diagnostic Molecular Genetics
Download Diagnostic Genetics Consent Form

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 ([email protected])
Chris Andry, PhD, Administrative Director and Vice Chair for Pathology Operations and Management ([email protected])
Neil ONeill, Senior Manager for Laboratory Medicine Operations ([email protected]: 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)