{"id":204,"date":"2016-04-15T13:58:13","date_gmt":"2016-04-15T17:58:13","guid":{"rendered":"https:\/\/www.bumc.bu.edu\/obgyn\/?page_id=204"},"modified":"2019-10-08T12:34:41","modified_gmt":"2019-10-08T16:34:41","slug":"diagnostic-genetic-services","status":"publish","type":"page","link":"https:\/\/www.bumc.bu.edu\/obgyn\/special-programs\/diagnostic-genetic-services\/","title":{"rendered":"Diagnostic Genetic Services and Genetic Counseling"},"content":{"rendered":"

Diagnostic genetics services at Boston Medical Center provide expertise in the diagnosis and evaluation of genetic and developmental disorders for patients, including:<\/p>\n

    \n
  1. Management of genetic-based conditions in adult and pediatric patients<\/li>\n
  2. Access to Molecular and Cytogenetic testing<\/li>\n
  3. Rapid, direct communication with referring physicians<\/li>\n<\/ol>\n

    Adult Genetics<\/h2>\n

    Medical geneticist Jodi Hoffman, MD and genetic counselor Lauren Lichten, MS, CGC provide diagnostic and management services for adults who have inherited disorders, genetic conditions, or birth defects.\u00a0 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. \u00a0NOTE:\u00a0This IS\u00a0the same location as pediatric genetics.<\/i><\/p>\n

    For an appointment call 617-414-4841 and fax referrals to 617-414-5741.<\/p>\n

    Amyloidosis Center<\/a><\/h2>\n

    For more information, please call: 617.638.4317<\/p>\n

    Hematology<\/a><\/h2>\n

    Center of Excellence in Sickle Cell Disease
    \n    Hemoglobin Diagnostic Reference Laboratory\u00a0<\/a>
    \nFor more information, please call: 617.414.1024.
    \nMedical Director: David Chui, MD<\/p>\n

    Prenatal Services<\/a><\/h2>\n

    Phillip Coonors, MS, CGC
    \nLilian\u00a0Sosa, MS, CGC
    \nChristina Yarrington, MD<\/p>\n

    For an appointment, call 617.414.2000
    \nAntenatal Testing Unit: Yawkey 5th Floor<\/p>\n

    Cancer Genetics<\/a><\/h2>\n

    Clare Hacking, MS, CGC and Annie Nyberg, MS, CGC are certified genetic counselors and 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 cover this testing.\u00a0 Consultations are provided in the Moakley Building, 3rd floor, at 830 Harrison Ave.<\/p>\n

    For an appointment call: 617-638-6428
    \nReferrals can be faxed to: 617-414-1558
    \nFor more information:     http:\/\/www.bmc.org\/cancer-center\/services\/genetic-counseling.htm<\/a><\/p>\n

    Pediatric Genetics<\/a><\/h2>\n

    Medical geneticist Jodi Hoffman, MD and genetic counselor Lauren Lichten, MS, CGC 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.<\/p>\n

    For an appointment call 617-414-4841 and fax referrals to 617-414-5741<\/p>\n

    For more information:\u00a0 http:\/\/www.bmc.org\/pediatricsgenetics.htm<\/a><\/p>\n

    Prenatal Genetics<\/a><\/h2>\n

    Genetic counselors Philip Connors, MS, CGC and Lillian Sosa, MS, CGC \u00a0provide 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\u2019s Antental Center, Yawkey 5th Floor.<\/p>\n

    For an appointment call 617.414.2000
    \nFor more information visit     http:\/\/www.bmc.org\/obgyn\/services\/obstetrics.htm<\/a><\/p>\n

    Medical geneticist Jodi Hoffman, MD provides consultation and management for women who are currently pregnant with a fetus found to have birth defects, genetic conditions, or at high risk for a condition seen in a previous child. Dr. Hoffman also provides consultation to women and men considering a pregnancy who may be at increased risk of having a child affected with a genetic condition due to family history of genetic conditions (Fragile X syndrome, cystic fibrosis, SMA, sickle cell anemia, etc.) and ethnic background (Ashkenazi Jewish and others). Clinic is held Tuesdays in Boston Medical Center\u2019s Women Center, Yawkey 5th Floor.<\/p>\n

    For an appointment call 617-414-2000 and fax referrals to 617-414-7212
    \nFor more information:<\/p>\n