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

Medical geneticist Jodi Hoffman, MD and the genetics teammanagement 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

For more information, please call: 617.638.4317

Center of Excellence in Sickle Cell DiseaseHemoglobin Diagnostic Reference LaboratoryFor more information, please call: 617.414.1024.Medical Director: David Chui, MD

Jodi Abbott, MDRobert Blatman, MDPhilip Connors, MS, CGCAviva Lee-Parritz, MDGlenn Markenson, MDLillian Sosa, MS, CGCChristina Yarrington, MD

For an appointment, call 617.414.2000Antenatal Testing Unit: Yawkey5th Floor

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: 617.638.6428Referrals can be faxed to: 617.414.1558

Medical geneticist Jodi Hoffman, MD and the genetics teamprovide 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 orfax 617.414.5741More information

Certified genetic counselors Philip Connorsand 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 Centers Antental Center, Yawkey 5th Floor.

For an appointment call 617.414.2000 orfax 617.414.7657More information

For more information:

Raveen Basran, D.Phil. Director of Diagnostic Molecular Genetics ([emailprotected]: 617.414.5329)Tom Maher, MS, Laboratory Manager of Diagnostic Molecular Genetics ([emailprotected]: 617.414.5312)Dan Remick, MD Medical Director, Diagnostic Molecular GeneticsDownload Diagnostic Genetics Consent Form

Michael OBrien, MD Chief Anatomic PathologyCarl O'Hara, MD - Chief of Laboratory MedicineShi Yang, MD, Scientific DirectorDownload Tissue Based DMP Requisition Form

Nancy Miller, MD, Medical Director Microbiology ([emailprotected])Chris Andry, PhD, Administrative Director and Vice Chair for Pathology Operations and Management ([emailprotected])Neil ONeill, Senior Manager for Laboratory Medicine Operations([emailprotected]: 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)

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Genetic Services | Boston Medical Center