Paid for by a grant from the United States Department of Health and Human Services, Health Resources Services Administration Maternal and Child Health Division (5H26MC00071) and by the New York State Department of Health NEW YORK STATE DEPARTMENT OF HEALTH WADSWORTH CENTER Empire State Plaza P.O. Box 509 Albany, NY 12201-0509 NameTitle/SectionTelephone Lawrence S. Sturman,Director, Wadsworth Center (518) 474-7592 MD, PhD Marlene Belfort, PhDDirector, Division of (518) 473-3345 Genetic Disorders Lorraine ClarkeDirector, Division(518) 485-5357 of Laboratory Quality Certification Katharine B. Harris, Genetic Services Administrator(518) 474-7148 MBAGENES Coordinator Nanette P. HealySupervisor, Cytogenetics(518) 474-6796 Laboratory Gerald J. Mizejewski, PhDDirector, Oncofetal(518) 486-5900 Antigen Laboratory Ann M. Willey, Director, Policy and Planning(518) 473-4856 PhD, JDDirector, Cytogenetics Laboratory NEW YORK STATE NEWBORN SCREENING PROGRAM Kenneth A. Pass, PhDDeputy Director, Division of (518) 474-1993 Genetic Disorders Chief, Laboratory of Genetics Services Director, Newborn Screening Program Ronald Bellisario, PhDResearch and Development(518) 486-5789 Lewis SchedlbauerDirector of Operations(518) 474-3043 Section Supervisors Meg ToombsData Entry Unit(518) 486-2584 John PostulkaHypothyroid Laboratory(518) 474-6489 Deborah RodriguezFollow-up Unit(518) 473-8472 John BerningerIMD Laboratory(518) 473-0784 DIVISION OF CHRONIC DISEASE PREVENTION AND ADULT HEALTH Karen Greendale, Director, Genetics Education (518) 474-1222 MA, CGCand Information Program NEW YORK STATE GENETICS SERVICES PROGRAMS The New York State Department of Health, Laboratory of Genetic Services administers a statewide clinical genetics program currently comprised of 24 Genetics Units which provide comprehensive genetics disease services on a regional or targeted area basis. All funded programs must be responsive to the objectives of the New York State Genetics Program which are: 1.To ensure the availability of comprehensive genetics services throughout New York State. 2.To ensure access to such services in areas that are identified to be underserved or unserved, by expanding existing genetics programs, improving referral systems or opening new satellite sites. 3.To ensure that genetics services in each catchment area are comprehensive and include diagnostic, therapeutic, and preventive services. 4.To ensure the financial accessibility of genetics services to all populations by eliminating financial barriers regardless of economic level. 5.To educate all third party payers about genetics services, and to encourage payers to include genetics services as part of their coverage. 6.To produce greater self-sufficiency of genetics programs by educating program billers on how to maximize all third party reimbursement and, in the absence of coverage, to utilize a zero-based sliding fee schedule. 7.To ensure that all appropriate practitioners, payers and the public are informed about genetic diseases, genetics services, and related issues through a coordinated educational campaign. 8.To ensure that local and statewide networks are linked to the appropriate national programs. 9.To ensure the continued development and application of techniques in genetic screening, diagnosis and counseling. Funded genetics providers have demonstrated the ability to provide non-categorical comprehensive genetics services including diagnosis (syndrome identification), counseling, follow-up and educational services to populations at risk in specific catchment areas. Educational programs are provided to professional and lay populations to increase the appropriate use of available genetics services. In HSAs or New York City boroughs where there are multiple genetics service providers, special effort is made to avoid duplication of services. Providers are expected to continually identify underserved and unserved neighborhoods and populations and to create programs to reach those populations. Several providers in New York State have developed expertise in specific genetic conditions or groups of conditions. Comprehensive service providers are expected to be aware of these programs and to work with them when possible. Genetic counselors in our centers routinely refer patients and families to appropriate voluntary support groups such as those listed in Section U. All providers are required to establish linkages with Maternal and Child Health and Crippled Children's Services programs supported under Title V of the Social Security Act, with regional offices of the State and Local Departments of Health and with local county agencies. Documentation of such interfaces must be demonstrated in progress reports and funding applications. Similar confirmatory communications are required to reflect on-going relationships with existing Sickle Cell Centers, Hemophilia Treatment Centers and other institutional genetics services programs (both external and internal) which may not be funded through the Maternal and Child Health Block Grant and/or state appropriation. All providers must send programmatic and financial information to the Department of Health as requested. Data must be collected on each patient seen on an individual Patient Contact Form (PCF). Department of Health staff may conduct site visits throughout the project grant period. Program directors must provide quarterly and annual reports of progress. A periodic competitive grant process ensures that the programs funded by the NYSDOH conform to the objectives of the program and that new providers are given the opportunity to compete for available funds. CHILDREN'S HOSPITAL OF BUFFALO HSA: 1 Address: Children's Hospital of Buffalo Division of Genetics 219 Bryant Street Buffalo, NY 14222 Telephone: (716) 878-7530 FAX: (716) 878-1351 Staff: Chief, Division of Genetics; Director, Metabolism Program; Director, Cytogenetics Laboratory; Director, DNA Diagnostic Laboratory: Richard W. Erbe, MD Director, Dysmorphology/Clinical Genetics: Luther K. Robinson, MD Associate Director, Clinical Genetics Program Laurie S. Sadler, MD Genetic Counselors: Sally R. Janes, MSW Juliann Stevens-Harvey, MS Kathleen R. Verdaasdonk, MS Developmental Pediatrics Consultants: Melissa Azuala, MD Thomas Lock, MD Mary Reese, MD Brian Rogers, MD Kevin Senn, MD Metabolism Program Nutritionist: Ellen W. DeVincentis, MS, RD Specialty Clinics: Adult Sickle Cell Clinic Craniofacial Disorders Clinic Cystic Fibrosis Clinic Developmental Disabilities Clinic Fetal Alcohol Syndrome Clinic Hematology Clinic Hemophilia Clinic Neuromuscular Disease Clinic Pediatric Sickle Cell Clinic Robert Warner Rehabilitation Center Williams Syndrome Clinic Satellite Clinics: Cattaraugus County Health Department Olean, NY 14760 Chautauqua County Health Department Mayville, NY 14757 Jesse Nash Health Center Buffalo, NY 14206 Niagara Family Pediatrics Niagara Falls, NY 14301 West Side Health Center Buffalo, NY 14201 Research Interests: Dysmorphology Fetal alcohol syndrome Fragile X syndrome Inherited metabolic disorders Metabolism of folic acid and homocysteine Mitochondrial disorders Molecular genetic testing Neuromuscular disease Teratogen exposure Special Hours: By appointment Flexible, on-call by pager Special Languages: Hospital interpreters available Special Resources: Adult Sickle Cell Patients Support Group DNA linkage analysis counseling and referral Lysosomal storage disease laboratory Metabolic disorders follow-up Neuromuscular disease/biochemical laboratory Parents group for sickle cell disease Regional Tay-Sachs screening program Teaching library for patients and professionals Teratogen hotline Western New York Genetics Consortium Advisory Group Western New York PKU Parent's Group UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE HSA: 2 Address: University of Rochester School of Medicine Rochester Regional Genetics Program Department of Pediatrics 601 Elmwood Avenue Rochester, NY 14642 Division of Pediatric Genetics, Box 777 Telephone: (716) 275-5857 FAX: (716) 273-1018 Staff: Director: George B. Segel, MD Geneticist/Molecular Biologist: Chin-To Fong, MD Geneticist, Director, Inherited Metabolic Disease Clinic: Georgianne Arnold, MD Clinical Coordinator: Jane DeLuca, RN, MSN, PNP Clinical Nutrition Specialist: Eileen Blakely, RD Reproductive Genetics, Box 668 Telephone: (716) 275-3304 Fax: (716) 256-4469 Staff: Director, Geneticist, Perinatologist: Devereux N. Saller, Jr., MD Clinical Coordinator, Genetic Counselor: Jeanne Peterson, MS Genetic Counselors: Andrea DeVizo, MS Pamela Plumeau, RN, PNP Kathleen Rossello, MS Division of Genetics and Screening Programs for Cancer, Hemoglobinopathies and Huntington's Disease, Box 641 Telephone: (716) 275-4602 (716) 275-3461 FAX: (716) 275-1034 Staff: Director: Peter Rowley, MD Project Coordinator: Starlene Loader Counselor: Sandra LaBella Biochemical Genetics Laboratory, Box 608 (Clinical Labs) Telephone: (716) 275-8483 Fax: (716) 273-1101 Staff: Laboratory Director: Robert A. Mooney, PhD Specialty Clinics: Birth Defects Center Cardiology Clinic Developmental Clinic Hemophilia Center of Rochester Huntington's Disease Clinic Muscular Dystrophy Unit Neurofibromatosis Clinic Treatment Center for Inherited Metabolic Disorders University Affiliated Program for Developmental Disabilities University of Rochester Cystic Fibrosis Clinic University of Rochester Neuromuscular Unit Satellite Clinics: Special Children's Center Ithaca, NY 14850 Research Interests: Cellular function and transport Cytogenetics of neoplastic cells Evaluation of genetic screening and counseling Inherited susceptibility to cancer Neurofibromatosis Nutritional and developmental parameters in inborn errors of metabolism von Hippel-Lindau disease Special Hours: Flexible in the event of an abnormal prenatal diagnosis Special Languages: Hospital interpreters: American Sign Language Southeast Asian Languages Spanish Others through AT&T Language Line Special Resources: Cancer cytogenetics Dysmorphology Fetal echocardiography Follow-up care of metabolic disorders Hemoglobinopathy screening Maternal serum AFP+ program Specialized cytogenetics - i.e. sister chromatid exchange, prometaphase, FISH, chromosome dissection Teratogen information STATE UNIVERSITY OF NEW YORK - UPSTATE MEDICAL CENTER HSA: 3 Address: SUNY Upstate Medical Center Regional Genetics Program Room 4139 750 East Adams Street Syracuse, NY 13210 Telephone: (315) 464-5884 (Project Office) (315) 464-4458 (Perinatal Center) (315) 464-7610 (Pediatric and Adult Genetics) FAX: (315) 464-6557 (Project Office) E-mail: silversb@upstate.edu Staff: Director, Perinatal Center: Robert Silverman, MD Director, Pediatric Genetics: Joe J. Hoo, MD Project Coordinator: Barbara Silverstone Perinatal Genetic Counselors: Karen Fay, MS Mary Jo Maestri, MS Tanya McGuire, MS Pediatric Genetic Counselors: Bonnie Braddock, MS Laura Thomson, MS Specialty Clinics: Cystic Fibrosis Clinic Muscular Dystrophy Clinic Neurofibromatosis Clinic Regional Perinatal Center Sickle Cell Treatment Center Spina Bifida Clinic Satellite Clinics: Handicapped Children's Center Binghamton, NY 13901 House of the Good Samaritan Watertown, NY 13601 North Country Children's Clinic Watertown, NY 13601 OB/GYN Associates of Northern New York Watertown, NY 13601 Research Interests: Chorionic villus sampling and placental biopsy Clinical cytogenetics Special Hours: Special Languages: Hospital interpreters as needed Special Resources: Chorionic villus sampling Cordocentesis Cytogenetics Dysmorphology Fetal echocardiography Fluorescent in situ hybridization HLA typing (Department of Clinical Pathology) Inborn errors of metabolism Maternal serum alpha-fetoprotein program Molecular diagnosis Regional Tay-Sachs screening program Sickle cell treatment program Teratogen counseling BINGHAMTON GENETIC COUNSELING PROGRAM HSA: 4 Address: Binghamton Genetic Counseling Program 124 Front Street Binghamton, NY 13905 Telephone: (607) 724-4308 FAX: (607) 724-8290 Staff: Project Director/Genetic Counselor: Luba Djurdjinovic, MS Medical Director, Consultant: Murray L. Nussbaum, MD Genetic Counselor Gwen Lopez, MS, CGC Social Worker: Tina Pilgrim, RN, MA, CSW North Country Genetic Service Project Providing Services to the Northern New York/Adirondack Region Staff: Consultant: Nietta Rogers, RN Coordinator, Genetic Counselor: Tammy Snell, MS Affiliation: Joe Jie Hoo, MD SUNY - Upstate Medical University Department of Pediatrics 750 East Adams Street Syracuse, NY 13210 Specialty Clinics: Craniofacial Evaluation Clinic Hemophilia Clinic Pediatric Clinic Satellite Clinics: Utica Office 3946 Oneida Street New Hartford, NY 13413 (315) 724-4348 Research Interests: Community genetics Infertility Special Hours: Evening appointments available Occasional Saturdays Special Languages: Special Resources: Families of Color Initiative Infertility support group ALBANY MEDICAL CENTER HSA: 5 Address: Albany Medical Center Clinical Genetics Department of Pediatrics - A88 47 New Scotland Avenue Albany, NY 12208 Telephone: (518) 262-5120 FAX: (518) 262-5924 Staff: Director, Clinical Genetics: Ian H. Porter, MD Co-Directors, Pediatric Endocrinology and Metabolism: Linda Riddick, MD Irene Sills, MD Genetic Counselors: Michelle R. Goyer, MS Christine R. Moore, MS Clinical Nurse Specialist, Pediatric Endocrinology and Metabolism: Cheryl Clow, RN Perinatal Ob/Gyn: Scott Dexter, MD Daniel Edelstone, MD Rene Samuelson, MD Specialty Clinics: Craniofacial Clinic (St. Peter's Hospital) Gaucher's Disease Clinic Hemophilia Clinic Huntington Disease Program Inherited Metabolic Disease Treatment Center Muscular Dystrophy Clinic Myelomeningocele Clinic Neurofibromatosis Clinic Phenylketonuria Clinic Sickle Cell Clinic Satellite Clinics: Planned Parenthood of Oneonta Oneonta, NY 13820 Research Interests: Growth in various genetic syndromes Maternal PKU Mechanisms of fetal alpha-fetoprotein regulation and their relationship to genetic disorders Molecular investigation of cytogenetic abnormalities Special Hours: Flexible Special Languages: Hospital staff members are available for interpretation into various languages including American Sign Language Special Resources: Family support groups Fetal echocardiography Support group for women who have terminated pregnancies for genetic/medical reasons REGIONAL MEDICAL GENETICS CENTER, INC. HSA: 6 Address: Regional Medical Genetics Center, Inc. 19 Bradhurst Avenue Hawthorne, NY 10532 Telephone: (914) 347-3010 FAX: (914) 347-4218 E-mail: lrskicker@msn.com Staff: Director, Clinical Genetics and Clinical Cytogeneticist: Lawrence R. Shapiro, MD Medical Geneticist: David F. Kronn, MD Supervising Genetic Counselor and Administrative Assistant: Linda Higgs, MS Genetic Counselors: Jacqueline Hoover, MS Robin Scott, MS Heidi Taska, MS Specialty Clinics: Hereditary Cancer Institute Craniofacial Center Cystic Fibrosis Clinic Gaucher Disease Center High Risk Obstetrics/Gynecology Clinic Hypothyroidism Center Mental Retardation Institute Metabolic Disease Center and Clinic Neonatal Intensive Care Unit Sickle Cell/Pediatric Hematology Clinic Spina Bifida Clinic Teratogen Hotline Outreach Sites: Community General Hospital Harris, NY (Sullivan County) Horton Memorial Hospital Middletown, NY (Orange County) Kingston Hospital Kingston, NY (Ulster County) Nyack Hospital Nyack, NY (Rockland County) Putnam Community Hospital Carmel, NY (Putnam County) Rockland County Health Center Pomona, NY (Rockland County) South Shore Hospital New Rochelle, NY 10802 (Westchester County) Vassar Brothers Hospital Poughkeepsie, NY (Dutchess County) Research Interests: Cytogenetics and dysmorphology Fragile X including prenatal diagnosis Prenatal diagnosis Special Hours: By prior arrangement Special Languages: Special Resources: Biochemical and metabolic genetics Regional Tay-Sachs carrier detection program Teratogen information and counseling LINCOLN MEDICAL & MENTAL HEALTH CENTER HSA/Borough: 7/Bronx Address: Lincoln Medical and Mental Health Center 234 East 149th Street Bronx, NY 10451 Telephone: (718) 579-5295 Fax: (718) 579-4640 Staff: Director, Medical Genetics: Philip Giampietro, PhD, MD Developmentalist: Alyson Gutman, MD Genetic Counselors: Kara Gardner, MS Hody Tannenbaum, MS, CGC Pediatric Hematologist: Thomas Moulton, MD Pediatric Endocrinologist: Swati Dave-Sharma, MD Specialty Clinics: Birth Defects Clinic High Risk Obstetrics Clinic Pediatric Hematology/Sickle Cell Clinic Satellite Clinics: Morrisania D&TC Segundo Ruiz Belvis D&TC Research Interests: Dysmorphology Fanconi anemia Marfan syndrome Special Hours: Special Languages: American Sign Language French Lao Spanish Thai Others through hospital interpreters Special Resources: Fetal echocardiography MSAFP program Newborn screening follow-up Prenatal hemoglobinopathy screening Sickle cell disease support groups for teens and parents Teratogen counseling MONTEFIORE MEDICAL CENTER HSA/Borough: 7/Bronx Division of Reproductive Genetics Address: Montefiore Medical Center Division of Reproductive Genetics Department of OB/GYN 1695 Eastchester Road Bronx, NY 10461 Telephone: (718) 405-8150 FAX: (718) 405-8154 Division of Pediatric Genetics Address: Montefiore Center for Congenital Disorders Center for Craniofacial Disorders 111 East 210th Street Bronx, NY 10467 Telephone: (718) 920-4300 FAX: (718) 920-6506 Staff: Co-Directors: Susan Gross, MD Robert W. Marion, MD Harold M. Nitowsky, MD Medical Geneticists: Paul A. Levy, MD Alan Shanske, MD Genetic Counselors: Myrna Ben-Yishay, MS Suzanne M. Carter, MS Judy Finn-Powers, MS Ellen Hantman, MS Specialty Clinics: Bone Dysplasia Clinic Chromosomal Clinic (includes Down Syndrome) Craniofacial Center General Dysmorphology Clinic Genetic Counseling for Cancer Neurofibromatosis Clinic Prenatal Diagnostic Center Spina Bifida Clinic Satellite Clinics: Blythedale Children's Hospital Bronx-Lebanon Hospital Bronx Municipal Hospital Center Jacobi Hospital North Central Bronx Hospital Research Interests: 22-q 11 deletion syndrome Biological and clinical implications of chromosome inversions In situ hybridization for analysis of chromosome abnormalities Molecular genetic abnormalities in sphingolipid storage disorders Natural history of multiple malformation syndromes Prenatal detailed ultrasound Serum markers in screening for fetal aneuploidy Uniparental disomy as a cause of prenatal and postnatal growth retardation Special Hours: Special Languages: Spanish Special Resources: Biochemical Genetics Carrier detection of coagulopathies Comprehensive Sickle Cell Center Disorder diagnosis Fellowship program Hematology/hemostasis laboratory for hemophilia HLA typing laboratory Molecular genetics Perinatal Assessment Center, Department of OB/GYN Reproductive genetics laboratory - Cytogenetics and biochemical THE BROOKLYN HOSPITAL CENTER HSA/Borough: 7/Brooklyn Address: The Brooklyn Hospital Center Departments of Obstetrics/Gynecology and Pediatrics Reproductive Genetics 121 Dekalb Avenue Brooklyn, NY 11201 Telephone: (718) 250-8032 Fax: (718) 250-8660 Staff: Director, Reproductive Genetics: Michael F. Cabbad, MD Clinical Geneticists: Fred Gilbert, MD Genetic Counselors: Marilyn Erickson, MS Kara Smith, MS Hematology/Oncology/Newborn Screening: Lynda Carde, RN Specialty Clinics: Bloodless Medicine and Surgery Program Cancer Center/Bone Marrow Transplant Unit Fertility Institute High Risk Obstetrics/Gynecology Clinic Level III Neonatal Intensive Care Unit Pediatric Hematology Clinic Speech and Hearing Center Satellite Clinics: All City Family Health Center Betty Shabbaz Community Family Planning Center Caribbean House Community Action of Bedford-Stuyvesant/Community Family Planning Center Fort Greene Maternal/Infant Care Center La Providencia Manhattan Avenue Clinic St. Francis de Sales School for the Deaf South Brooklyn Clinic Williamsburg Family Health Center Williamsburg Maternal/Infant Care Center Family Planning Project Research Interests: Breast cancer genetics Dysmorphology Epilepsy Hearing loss Infertility and reproductive loss Teen pregnancy Special Hours: Special Languages: Creole French Russian Spanish Special Resources: Chorionic villi sampling Level II fetal sonography and echocardiography Percutaneous umbilical blood sampling Level II fetal sonography and echocardiography MAIMONIDES MEDICAL CENTER HSA/Borough: 7/Brooklyn Address: Maimonides Medical Center 4802 10th Avenue Brooklyn, NY 11219 Telephone: (718) 283-7229 FAX: (718) 635-7442 Staff: Chief Clinical Geneticist: Gabriel S. Kupchik, MD Division Coordinator, Genetic Counselor: Shannon Barrett, MS Genetic Counselor: Deborah Rosa, MS Specialty Clinics: Satellite Clinics: Brookdale Hospital Medical Center Lutheran Medical Center MMC Developmental Center Research Interests: Bipolar disorders Cystic fibrosis Genetic counseling in the Pakistani community Special Hours: 24 hour beeper coverage Special Languages: Hebrew Russian Spanish Urdu Hospital interpreters for 60 other languages Special Resources: CVS Fragile X testing MSAFP program NEW YORK METHODIST HOSPITAL HSA/Borough: 7/Brooklyn Address: New York Methodist Hospital 506 Sixth Street Brooklyn, NY 11215 Telephone: (718) 780-3264 - Clinical Genetics (718) 636-0971 - Genetic Counseling (718) 857-5643 - Sickle Cell/Thalassemia Program FAX: (718) 780-3085 - Genetic Counseling (718) 857-6798 - Sickle Cell/Thalassemia Program Staff: Director, Medicine: Harvey Dosik, MD Clinical Geneticist: Ernest Lieber, MD Chief, Comprehensive Sickle Cell/Thalassemia Program; Director, Newborn Screening: Rita Bellevue, MD Genetic Counselor: Sharon Wolfe, MS Newborn Screening Coordinator for Hemoglobinopathies: Patricia Ryans Specialty Clinics: Ashkenazi Jewish Genetics Disease Screening Program Breast Cancer Risk Assessment Comprehensive follow-up clinic for patients with abnormal hemoglobins Newborn Screening Follow-up Clinic Prenatal/Preconception Clinics Sickle Cell/Thalassemia Program Satellite Clinics: Research Interests: Breast Cancer Hematological disorders: sickle cell disease, thalassemias Special Hours: Evening hours or weekend hours are available when arranged in advance Special Languages: Creole French Spanish Special Resources: Neurofibromatosis support group Sickle cell/thalassemia patient education group Sickle cell/thalassemia patient support group Sickle cell/thalassemia fund raising network School education in general genetics and hemoglobinopathies BETH ISRAEL MEDICAL CENTER HSA/Borough: 7/Manhattan Address: Beth Israel Medical Center Division of Medical Genetics First Avenue at 16th Street New York, NY 10003 Telephone: (212) 420-4179 FAX: (212) 420-3440 E-mail: vpenchas@bethisrealny.org Staff: Chief, Division of Medical Genetics: Victor Penchaszadeh, MD, MS Genetic Counselors: Katherine Daley, MS Andrea Fuchs, MS Jennifer Gerschowitz, MS Diana Punales-Morejon, MS Specialty Clinics: Birth Defects Clinic High Risk Pregnancy Clinic Pediatric Genetics Clinic Satellite Clinics: Research Interests: Cytogenetic markers Dysmorphology Epidemiology of birth defects Genetics and public health Psychosocial aspects of genetic counseling Transcultural aspects of genetic counseling in Hispanic and Asian populations Special Hours: Flexible Special Languages: French Greek Hebrew Indian Italian Rumanian Russian Spanish Special Resources: Cancer genetics Hemoglobinopathy screening Maternal Screening Perinatology Support group for patients who have terminated pregnancies for genetic reasons Teratogen information HARLEM HOSPITAL CENTER HSA/Borough: 7/Manhattan Address: Harlem Hospital 135th Street at Lenox Avenue, Suite 6146 New York, NY 10037 Telephone: (212) 939-1701 FAX: (212) 281-4334 Staff: Director: Jeanne A. Smith, MD Consultant/Geneticist: Nelly Jouayed, MD Genetic Counselors: Cecelia Campbell, MS Theresa Dugger, MS Social Worker: Howard Forbes Health Educator: Eleanor W. Peterson, RN, MA Specialty Clinics: Amniocentesis Counseling High Risk Obstetrics Clinic Pediatric Genetic Clinic Prenatal Diagnosis/Counseling Sickle Cell Clinic Satellite Clinics: Research Interests: Sickle cell and related hemoglobinopathies Special hours: Special Languages: Hospital interpreters available Special Resources: Health education Sickle cell support groups METROPOLITAN HOSPITAL CENTER HSA/Borough: 7/Manhattan Address: Metropolitan Hospital Center Department of Pediatrics Division of Genetics 1901 First Avenue New York, NY 10029 Telephone: (212) 423-6452 FAX: (212) 423-6183/8450 Staff: Director, Clinical Genetics: Karen L. David, MD Coordinator, Genetic Counseling Services: Meg Menzel, MS Specialty Clinics: Cleft Palate Clinic Developmental Clinic Infant Stimulation Program Pediatric Hematology/Sickle Cell Clinic Satellite Clinics: Terence Cardinal Cooke Health Care Center Research Interests: Dysmorphology Teratology Special Hours: By request Special Languages: American Sign Language French Spanish Others through hospital interpreters Special Resources: Down syndrome support group MSAFP program Sickle cell disease counseling/screening program MOUNT SINAI MEDICAL CENTER HSA/Borough: 7/Manhattan Address: Mount Sinai Medical Center Department of Human Genetics One Gustave L. Levy Place Box 1497 New York, NY 10029 Telephone: (212) 241-6947 FAX: (212) 860-3316 E-mail: J.Willner@mssm.edu Web page: www.mssm.edu/genetics/homepage.html Staff: Chairman, Department of Human Genetics; Director, Center for Jewish Genetic Diseases: Robert J. Desnick, PhD, MD Vice Chair, Department of Human Genetics: Margaret McGovern, MD, PhD Clinical Geneticists: George Diaz, MD Christine M. Eng, MD Bruce Gelb, MD Kurt Hirschhorn, MD Nataline Kardon, MD John Martignetti, MD, PhD Gregory Pastores, MD Claude Sansaricq, MD, PhD Selma E. Snyderman, MD Melissa Wasserstein, MD Judith P. Willner, MD Biochemical Geneticists: Marie Grace, PhD Kimiyo Raymond, MD Cytogeneticists: Teresa Dunn, PhD Nataline Kardon, MD Molecular Geneticist: Ruth Kornreich, PhD Center for Jewish Genetic Diseases: Robert J. Desnick, PhD, MD Pramod Mistry, MD, PhD Genetic Counselors: Shivani Batra, MS Alison Smith, MS Yara Kharbutli, MS Julie McGlynn, MS Jane Robinowitz, MS Karyn Schmeider, MS Lorien Tambini, MS Randi Zinberg, MS Cancer Genetics Counseling Program Coordinator: Karen Brown, MS Sherry Campbell-Grumett, MS Niecee Singer, MS Specialty Clinics: Comprehensive Gaucher Disease Clinic Cancer Genetic Counseling Program Cardiogenetics Clinic Cranio-Facial Disorders Clinic Cystic Fibrosis Clinic Fabry Disease Clinic Hemoglobinopathy Clinic Hemophilia Clinic (in collaboration with New York Hospital-Cornell Medical Center) Inherited Metabolic Disease Clinic Neurofibromatosis Clinic Neuromuscular Clinic Neurogenetics Clinic Obstetrics Genetic Counseling Clinic Pediatric Neuromuscular Clinic Satellite Clinics: Research Interests: Chromosome instability in human cancers Clinical delineation of genetic disorders in unique and unusual syndromes Cystic fibrosis prenatal diagnosis Fabry disease - molecular and model therapeutic studies First trimester maternal marker/ultrasound screening (FASTER Study) Gaucher disease - studies of genetic heterogeneity, natural history, molecular studies, therapeutic approaches Genetics of congenital heart disease Inherited metabolic diseases: diagnosis and treatment Molecular-based genetic screening Mucopolysaccharidoses - natural history, animal models and therapeutic approaches Natural history of incontinentia pigmenti Niemann Pick disease - natural history and diagnostic approaches Phenylketonuria - genotype/phenotype correlations and therapeutic treatment Porphyrias - studies of human heme biosynthesis Tay-Sachs disease and GM2 gangliosidosis - biochemical, molecular and clinical studies Special Hours: Evening Jewish genetic disease screening Weekly evening amniocentesis group counseling Special Languages: Spanish Special Resources: Center for Jewish Genetic Diseases Chorionic villus sampling and amniocentesis DNA diagnostic laboratory FASTER study Fetal echocardiography Fetoscopy Gaucher's disease patient support group Genetic Counselor Masters Degree Program Jewish genetic disease carrier screening Lysosomal enzyme laboratory Maternal marker screening Percutaneous fetal blood sampling Program for inherited metabolic disease Sickle cell disease program Tay-Sachs disease carrier screening program NEW YORK UNIVERSITY MEDICAL CENTER HSA/Borough: 7/Manhattan Address: New York University Medical Center Department of Pediatrics Human Genetics Program 550 First Avenue New York, NY 10016 Telephone: (212) 263-5746 FAX: (212) 263-7590 E-mail: ostreh01@mcrer6.med.nyu.edu Web site: www.med.nyu.edu/genetics Staff: Director and Medical Geneticist; Director Molecular Genetics Laboratory: Harry Ostrer, MD Medical Geneticists: Lillian Y.F. Hsu, MD Gregory Pastores, MD Robert Wallerstein, MD Chief, Neurology, Biochemical Geneticist, Clinical Geneticist: Edwin H. Kolodny, MD Genetic Counselors: Jill Borsuk, MS Valerie Jansen, MS Janice Ng, MS Elsa Reich, MS Laura Zajac, MS Genetic Counselor - Hospital for Joint Diseases Ellen Moran, MS Biochemical Geneticist: Rochelle Hirschhorn, MD Supervisor, Molecular Genetics Laboratory: Carole Oddoux, PhD Specialty Clinics: Birth Defects Clinic Cancer Risk Clinic Cleft Lip/Palate Clinic Craniofacial Clinic Dysautonomia Treatment and Evaluation Center Ectodermal Dysplasia Clinic Endocrine/Sexual Differentiation Clinic Fertility Clinic Gaucher Treatment Program Hearing Loss Clinic Hemophilia Clinic High Risk Pregnancy Clinic Neuromuscular Diseases Clinic Spina Bifida Clinic Satellite Clinics: Bellevue Hospital Hospital for Joint Diseases, Center for Neuromuscular and Developmental Disorders New York Downtown Hospital Rusk Institute of Rehabilitation Medicine Tisch Hospital Research Interests: Adenosine deaminase Autonomic neuropathies Clotting disorders Control of pigmentation Disorders of sexual differentiation Hearing and Deafness Hereditary sensory neuropathies Human color vision Immunodeficiencies Lysosomal and other neurodegenerative diseases Rubenstein-Taybi syndrome Storage disorders (Pompé disease, Gaucher disease and Sphingolipidoses) Tumor cytogenetics Special Hours: Special Languages: Cantonese French Mandarin Spanish Special Resources: Autonomic function laboratory Fetal echocardiography Hypothyroidism center Metabolic disease center Molecular genetics laboratory MSAFP program Screening for Ashkenazi Jewish diseases and autosomal recessive disorders in other population groups NEW YORK PRESBYTERIAN HOSPITAL HSA/Borough: 7/Manhattan Address: New York Presbyterian Hospital 117 Fort Washington Avenue Milstein Building 9GN-421 New York, NY 10032 Telephone: (212) 305-6731 Fax: (212) 305-9058 Staff: Director, Division of Clinical Genetics: Kwame Anyane-Yeboa, MD Co-director, Division of Clinical Genetics; Director, Molecular Genetics Laboratory: Stephen A. Brown, MD (212) 305-6742 Clinical Geneticist: Wendy Chung, MD, PhD Robert Vosatka, MD Division Coordinator: Carrie Koval, MS Genetic Counselors: Erin Caine, MS Elana Cox, MS Ruth Ann Denchy, MS Edwin Guzman, MS Jennifer Kaufman, MS Donna Russo, MS Karlla Welch, MS Jennifer Williamson, MS Specialty Clinics: Cancer Genetics Clinic Craniofacial Clinic Cystic Fibrosis Clinic Huntington Disease Clinic Movement Disorders Clinic Muscular Dystrophy Clinic Sickle Cell Clinic Satellite Programs: Research Interests: DCA/MELAS clinical trial First and Second Trimester Elavuation of Risk (FASTER Trial) Familial Alzheimers disease and early onset Alzheimers disease Gene therapy Investigation of clinical syndromes associated with mtDNA point mutations Mitochondrial disorders Molecular basis of inherited skin disorders Molecular genetics analysis of obesity and type 2 diabetes mellitus ZIC 2 Mutations and holoprosencephaly Special Hours: Special Language: Spanish Special Resources: Chorionic villus sampling DNA analysis: Fragile X, Prader-Willi, Duchenne muscular dystrophy, uniparental disomy studies, sickle cell FISH analysis MtDNA mutation analysis Paternity testing Prenatal diagnosis for Huntington's disease Prenatal diagnosis for sickle cell disease SOD 1 testing Tumor cytogenetics X chromosome inactivation skewing (especially related to premature ovarian failure) Y chromosome microdeletion studies related to male infertility ST. LUKE'S-ROOSEVELT HOSPITAL CENTER HSA/Borough: 7/Manhattan Address: St. Luke's-Roosevelt Hospital Center Genetics Division - 1000 Tenth Avenue, 11th Floor, Room 11A New York, NY 10019 Telephone: (212) 523-5895 Fax: (212) 523-3864 Staff: Clinical Geneticist: Kwame Anyane-Yeboa, MD Genetic Counselors: Elaine Fuhrman, MS Heather Shane, MS Lisa Stevens, MS Data Coordinator: Elaine Wilkes Social and Educational Services: Elise Rackmill, CSW Social Services: Sandra Hernandez, CSW Specialty Clinics: Pediatric Genetics Clinic Satellite Clinics: Research Interests: Clinical dysmorphology Special hours: Call for information Special Languages: Hospital interpreters available Special Resources: Affiliated with Columbia University Sickle Cell Center A designated New York State Blood Dyscrasia Center SAINT VINCENT CATHOLIC MEDICAL CENTERS OF NEW YORK HSA/Borough: 7/Manhattan Address: Saint Vincent Catholic Medical Centers of New York, Manhattan Region O'Toole Building, Suite 509 36 Seventh Avenue New York, NY 10011 Telephone: (212) 604-8896 Fax: (212) 604-3899 Staff: Clinical Geneticist: Gordon Hutcheon, MD Genetic Counselor: Elinor Langfelder Schwind, MS Mary Miller, MS Specialty Clinics: Cystic Fibrosis Clinic Satellite Clinics: Research Interests: Cystic Fibrosis Dysmorphology Special Hours: Special Languages: Hospital interpreters are available Special Resources: CITY HOSPITAL CENTER AT ELMHURST HSA/Borough: 7/Queens Address: City Hospital Center at Elmhurst Department of Pediatrics E9-1 79-01 Broadway Elmhurst, NY 11373 Telephone: (718) 334-5510/5111 FAX: (718) 334-5759 Staff: Director, Pediatrics: Mel Gertner, M.D Clinical Geneticist: Sara Kaffe, MD Genetic Counselor: Carrie Koval, MS Specialty Clinics: Developmental Evaluation Clinic Obstetrics Genetic Counseling Clinic Pediatric Neuromuscular Clinic Satellite Clinics: Research Interests: Special Hours: Special Languages: Special Resources: NORTH SHORE LONG ISLAND JEWISH MEDICAL CENTER HSA/Borough: 7/Queens Address: North Shore Long Island Jewish Medical Center Schneider Children's Hospital 269-01 76th Avenue New Hyde Park, NY 11040 Telephone: New Hyde Park Site - (718) 470-3010 St. Albans Site - (718) 298-8536 Fax: New Hyde Park - (718) 347-2814 St. Albans Site - (718) 298-8537 Staff: Director and Clinical Geneticist: Joyce E. Fox, MD Project Coordinator: William Molette Genetic Counselors: Suzanna Allan, MS Jenna Antonelli, MS Donna Blumenthal, MS Meredith Masiello, MS Nina Sitron, MS Specialty Clinics: Craniofacial Clinic Cystic Fibrosis Clinic Gender Development Clinic (Bernard Worob Center) Hemophilia Clinic Marfan Syndrome Clinic Neurofibromatosis Center Satellite Clinics: The Jamaica Hospital The Maternal and Infant Care Project, Jamaica Veterans Administration Extended Care Center, St. Albans Research Interests: Special Hours: Special Languages: Spanish Special Resources: Support groups QUEENS HOSPITAL CENTER HSA/Borough: 7/Queens Address: Queens Hospital Center 82-68th 164th Street Jamaica, NY 11432 Telephone: (718) 883-4676 FAX: (718) 883-6107 Staff: Medical Geneticist/Developmentalist: Sara Kaffe, MD Genetic Counselor: Patricia Power, MS Specialty Clinics: Satellite Clinics: Research Interests: Special Hours: Special Languages: Special Resources: INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES HSA/Borough: 7/Staten Island Address: Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road Staten Island, NY 10314 Telephone: (718) 494-5221 FAX: (718) 494-1072 Staff: Director, Inherited Metabolic Disorders Laboratory and Genetic Testing: Susan Sklower Brooks, MD Chairman, Department of Human Genetics; Director, DNA Diagnostic Laboratory; Director, George A. Jervis Clinic: W. Ted Brown, MD, PhD Chairman, Department of Cytogenetics; Director, Cytogenetics Laboratory: Edmund C. Jenkins, PhD Genetic Counselors: Jacquelyn Krogh, MS Nancy Zellers, MS Head, Laboratory of Molecular Genetics: Nan Zhong, MD Head, Laboratory of Mucopolysaccharide Research: Fred Kieras, PhD Supervisor, Biochemical Genetics Laboratory: Lorraine Wilbur Supervisor, DNA Diagnostic Laboratory: Sarah L. Nolia, PhD Specialty Clinics: Cleft Lip/Cleft Palate Clinic Developmental Disabilities Clinic Fragile X Clinic High Risk Pregnancy Clinic Sickle Cell and Newborn Screening Clinic Teen Pregnancy Clinic Satellite Clinics: St. Vincent Catholic Medical Center of New York, Staten Island Divison Staten Island University Hospital Research Interests: Batten disease Down syndrome Fragile X syndrome Neuronal ceroid lipofuscinosis Prader-Willi syndrome Storage disorders Special Hours: Special Languages: Chinese Hindi Italian Spanish Special Resources: Amino acid analysis Complex and simple carbohydrate analysis Dolichol analysis Fragile X DNA analysis Ganglioside analysis Glycolipid analysis High resolution cytogenetics In-situ hybridization Lysosomal enzyme analysis Organic acid analysis Very long chain fatty acid analysis NASSAU COUNTY MEDICAL CENTER HSA: 8 Address: Nassau County Medical Center 2201 Hempstead Turnpike East Meadow, NY 11554 Telephone: Division of Medical Genetics: Department of Ob/Gyn - (516) 572-6166 Department of Pediatrics - (516) 572-3148, 572-3391 Fax: (516) 572-5718 E-mail: bfeldman@NUMC.edu (Department of Pediatrics) RegionalGenetics@Compuserve.Com (Barbara Miller, MS) Staff: Clinical Geneticist: Jack Sherman, MD Genetic Counselors: Barbara Davidoff-Feldman, MS, CGC Vivien Diaz-Barrios, MS, CGC Barbara Miller, MS, CGC Genetic Assistant: Barbara Hull, MS Specialty Clinics: Child Development Center Muscular Dystrophy Clinic Pediatric Hematology Clinic Prenatal Diagnostic Center Sickle Cell Satellite Clinics: Central Suffolk Hospital, Riverhead, NY Martin Luther King Health Center, Wyandanch, NY Tri-Community Health Center, Amityville, NY Research Interests: Special Hours: Special Languages: Spanish Special Resources: STATE UNIVERSITY OF NEW YORK AT STONY BROOK HSA: 8 Address: SUNY at Stony Brook Genetics Division, Department of Pediatrics L5, Room 728 University Hospital Stony Brook, NY 11794-7535 Telephone: (631) 444-2790 FAX: (631) 444-2761 Staff: Pediatric Geneticist: Patricia A. Galvin-Parton, MD Genetic Counselors: Linda Buttice, MS Marcy Demsky, MS Gwen Goldstein, MS Jennifer Neil, MS Michelle Sardella, MS Jody Weiss-Burns, MS Nutritionist: Maria Puangco, RD Specialty Clinics: Cystic Fibrosis Center Cleft Palate/Craniofacial Team General Genetics Clinic Hemoglobinopathy Clinic Metabolic Clinic Neurofibromatosis/Tuberous Sclerosis Clinic NICU/In-patient genetic services Satellite Clinics: Lifecare Center Hampton Bays, NY St. Charles Hospital Port Jefferson, NY 11777 Suffolk County Health Centers (All) Research Interests: Aminoacidopathies Lysosomal storage diseases Special Hours: Evening and Saturday hours Special Languages: Spanish Other languages available through hospital interpreters Special Resources: Amniocentesis Fetal echocardiography Full service cytogenetics laboratory Jewish diseases screening program MSAFP program Molecular Diagnostics Laboratory Percutaneous umbilical blood sampling Perinatal bereavement team Perinatology service Teratogen Counseling WINTHROP UNIVERSITY HOSPITAL HSA: 8 Address: Winthrop University Hospital 120 Mineola Soulevard, Suite 210 Mineola, NY 11501 Telephone: (516) 663-2657 FAX: (516) 663-3070 Staff: Director, Genetics Division; Assistant Director, Pediatric Endocrinology: Moris Angulo, MD Clinical Genetic Consultant: Kwame Anyane-Yeboa, MD Director, Pediatric Endocrinology: Mariano Castro-Mangana, MD Genetic Counselors: Elizabeth Hegarty, MS Kathleen O'Brien, MS Elizabeth Segel, MS Specialty Clinics: Abnormalities of Sexual Differentiation CVS Program Growth Disorders Prader-Willi Clinic Satellite Clinics: New Island Hospital Bethpage, NY 11714 566 Merrick Road Rockville Centre, NY 11570 Research Interests: Growth disorders Prader-Willi syndrome Special Hours: Saturday Special Languages: Spanish Special Resources: CVS Support group for parents of children with Prader-Willi syndrome Full service cytogenetics laboratory Jewish diseases screening program MSAFP program Molecular Diagnostics Laboratory Percutaneous umbilical blood sampling Perinatal bereavement team Perinatology service Teratogen Counseling ADDITIONAL GENETICS SERVICE PROGRAMS IN GENES The Genetics Services Programs listed in this section do not presently receive funding from the New York State Department of Health, Laboratory of Human Genetics. This is not a judgement of their capability to provide quality genetics services. The list is not exhaustive and there may be programs which are not listed because they are not known by the New York State Genetics Services Program staff. PEGGY BLATTNER, MS HSA: 6 Address: Peggy Blattner, MS 4 Cherrywood Road Scarsdale, NY 10583 Telephone: (914) 725-3212 Affiliation: White Plains Hospital Staff: Consultant Genetic Counselor, Muscular Dystrophy Association: Peggy Blattner, MS Specialty Clinics: Muscle Disorders Clinic Prenatal Diagnosis Clinic Satellite Clinics: Research Interests: Muscular dystrophies Special Hours: Special Languages: French Italian Special Resources: Support group information and referral BLYTHEDALE CHILDREN'S HOSPITAL HSA: 6 Address: Blythedale Children's Hospital Valhalla, NY 10595-1597 Telephone: (914) 592-7555 FAX: (914) 592-5844 Staff: Physicians: Robert W. Marion, MD Genetic Counselors: Ellen Hantman, MS Specialty Clinics: Craniofacial Clinic Limb Deficiency Clinic Neurofibromatosis Clinic Spina Bifida Clinic Satellite Clinics: Affiliated with Center for Congenital Disorders, Montefiore Medical Center, Bronx, NY Research Interests: Natural history of syndromes Spina Bifida Treatment for osteogenesis inperfecta Special Hours: Special Languages: Spanish Special Resources: Multidisciplinary approach to longitudinal care including all necessary specialties and subspecialties. GENZYME GENETICS HSA: 6,7,8 Address: Genzyme Genetics 100 Corporate Drive Yonkers, NY 10701-6807 Telephone: Laboratory: (914) 969-3399 (800) 969-9933 (800) 955-4363 Clinical Services: (800) 969-3398 FAX: (914) 969-2019 Staff: Medical Directors: Stirling Puck, MD Sucheta Bhatt, MD Cytogeneticist: Barry Barnoski, PhD Meira Shaham, PhD Martha Weinstein, PhD Genetic Counselors: Judy Durcan, MS Yael Furman, MS Joan Kegerize, MS Melanie McDermet, MS Betsy Vibert, MS Fiona Wallace, MS Robin Wolf, MS Specialty Clinics: Satellite Clinics: Research Interests: Special Hours: Flexible Special Languages: Special Resources: Cancer Cytogenetics DNA PHELPS MEMORIAL HOSPITAL CENTER HSA: 6 Address : Phelps Memorial Hospital Center 701 North Broadway North Tarrytown, NY 10591 280 Mamaroneck Avenue (office) White Plains, NY 10605 Telephone: (914) 366-3553 (914) 997-6535 (office) FAX: (914) 997-6536 Staff: Director, Genetic Services: Pauline Brenholz, MD Specialty Clinics: Satellite Clinics: Research Interests: Special Hours: Special Languages: Special Resources: BROOKDALE HOSPITAL MEDICAL CENTER HSA/Borough: 7/Brooklyn Address: Brookdale Hospital Medical Center One Brookdale Plaza Brooklyn, NY 11212 Telephone: (718) 240-5883 Staff: Director and Cytogeneticist: Edmund Jenkins, PhD Edward J. Schutta, MD Medical Geneticist: Gabriel Kupchik, MD Specialty Clinics: Satellite Clinics: Research Interests: Special Hours: By request Special Languages: Hospital interpreters available Special Resources: DOR YESHORIM, INC. (COMMITTEE FOR PREVENTION OF JEWISH GENETIC DISEASES) HSA/Borough: 7/Brooklyn Address: Dor Yeshorim, Inc. 429 Wythe Avenue Brooklyn, NY 11211 Telephone: (718) 384-2332 FAX: (718) 384-2815 Staff: Executive Director: Rabbi Joseph Ekstein Medical Director: Harold Nitowsky, MD Director of Development: Rabbi Schmuel Lefkowitz Genetic Counselor: Frances Berkwits, MS Specialty Clinics: Satellite Clinics: Research Interests: This program coordinates pre-marital screening for Tay- Sachs and other genetic diseases and provides genetic counseling services to the religious Jewish community. Special Hours: Special Languages: Special Resources: INTERFAITH MEDICAL CENTER HSA/Borough: 7/Brooklyn Address: Interfaith Medical Center Brooklyn Jewish Site 555 Prospect Place Brooklyn, NY 11238 Telephone: (718) 935-7325 - Department of Medicine (718) 935-7410 - Department of Human Genetics (718) 935-6260 - Department of Pediatrics FAX: (718) 935-7872 Staff: Chief, Division of Human Genetics: Ernest Lieber, MD Director of Newborn Screening: Swayah Sadanandan, MD Genetic Counselor: Helene Ince, MS Health Educator: René Ulysse Specialty Clinics: Follow-up Clinic for patients with abnormal hemoglobins Newborn Screening Follow-up Clinic Orofacial/Dental Genetics Clinic Prenatal Clinics Sickle Cell Program Satellite Clinics: Lyndon Baines Johnson Family Health Center 276 Nostrand Avenue, Brooklyn 11205 New Bedford Maternal/Infant Care Center 1360 Fulton Street, Brooklyn 11215 Ralph Avenue Family Health Center 38 Ralph Avenue, Brooklyn 11221 Restoration Family Health Center Throop Avenue Family Health Center 485 Throop Avenue, Brooklyn 11221 Research Interests: Cancer genetics General genetics Hematological disorders Infertility Sickle cell disease Thalassemias Special Hours: Evening hours or weekend hours are available when arranged in advance Special Languages: Creole French Spanish Special Resources: Sickle cell/thalassemia patient education group Sickle cell/thalassemia patient support group Sickle cell/thalassemia fund raising network School education (general genetics and hemoglobinopathies) LONG ISLAND COLLEGE HOSPITAL HSA/Borough: 7/Brooklyn Address: Long Island College Hospital Division of Genetics 350 Henry Street Brooklyn, NY 11201 Telephone: (718) 780-1401 Staff: Chief, Division of Genetics: Karen L. David, MD Genetic Counselor: Monika Zak-Aptekar, MS (718) 780-1772 Specialty Clinics: Satellite Clinics: Research Interests: Cancer Genetics Fragile X Prenatal diagnosis Special Hours: Special Languages: Special Resources: STATE UNIVERSITY OF NEW YORK DOWNSTATE MEDICAL CENTER HSA/Borough: 7/Brooklyn Address: SUNY Downstate Medical Center Department of Pediatrics 450 Clarkson Avenue Brooklyn, NY 11203 Telephone: (718) 270-2924 (Obstetrics) FAX: (718) 270-1985 Staff: Senior Genetic Counselor: Eva Beller, MS Specialty Clinics: Birth Defects Clinic Developmental Evaluation Clinic Interdisciplinary NTD Clinic Regular and High Risk Obstetric Clinic Sickle Cell Disease Program Satellite Clinics: Brownsville Clinic East New York Clinic Research Interests: Congenital malformations Maternal and fetal cell mixtures in newborns by FISH Special Hours: Special Languages: French Hindustani Marathi Spanish Urdu Special Resources: Bereavement group THE NEUROLOGICAL INSTITUTE HSA/Borough: 7/Manhattan Address: The Neurological Institute Center for Parkinson's Disease and Other Movement Disorders 710 West 168th Street New York, NY 10032-3784 Telephone: (212) 305-4473 Fax: (212) 305-1304 E-mail: harris@movdis.cis.columbia.edu Staff: Director: Juliette Harris, MS, PhD Genetic Counselor: Jennifer Williamson, MS Specialty Clinics: Satellite Clinics: Research Interests: "International" focus on Parkinson's Disease Multiple Member/Siblings Special Hours: Special Languages: Special Resources: HOSPITAL FOR JOINT DISEASES/ ORTHOPĆDIC INSTITUTE HSA/Borough: 7/Manhattan Address: Hospital for Joint Diseases/Orthopćdic Institute Center for Neuromuscular and Developmental Disorders 301 East 17th Street New York, NY 10003 Telephone: (212) 598-6215 Fax: (212) 598-6351 Staff: Directors, Genetic and Growth Centers: Harry Ostrer, MD Robert Wallerstein, MD Genetic Counselor/Coordinator: Ellen Moran, MS Specialty Clinics: Arthrogryposis Clinic Birth Defects Clinic Connective Tissue Disorders Clinic Developmental Disorders/Cerebral Palsy Clinic Neurofibromatosis Clinic Neuromuscular Disorders Clinic Skeletal Dysplasias Clinic Spina Bifida Clinic Satellite Clinics: Research Interests: Cerebral palsy Connective tissue disorders Dysmorphology Skeletal dysplasias Special Hours: Special Languages: Spanish Special Resources: Comprehensive skeletal dysplasia clinical care program Early intervention program Muscular dystrophy program Orthopedic specialty clinics Psychosocial support services Rehabilitation services/speech therapy NEW YORK DOWNTOWN HOSPITAL HSA/Borough: 7/Manhattan Address: New York Downtown Hospital 170 Williams Street New York, NY 10038 Telephone: (212) 312-5880 FAX: Staff: Genetic Counselor: Sandra Cohen, MS Specialty Clinics: Satellite Clinics: Mercy Street Medical Hospital Research Interests: Special Hours: Special Languages: French Hebrew Spanish Special Resources: Thalassemia Program THE NEW YORK HOSPITAL - CORNELL MEDICAL CENTER HSA/Borough: 7/Manhattan Address: The New York Hospital Division of Human Genetics Department of Pediatrics Room HT-150 525 East 68th Street New York, NY 10021 Telephone: (212) 746-1496 FAX: (212) 746-8893 Staff: Co-Directors: Jessica G. Davis, MD Fred Gilbert, MD Clinical Geneticists: Philip Giampietro, PhD, MD Obstetricians/Gynecologist: Stephen T. Chasen, MD Frank Chervenak, MD Coordinator, Genetic Counseling Program: Heather Kamen, MS Genetic Counselors: Katherine Beaverson, MS Ann Carlson, MS Susan Larousse, MS Denise Levy, MS Gladys Rosenthal, MS Niecee Singer, MS Judith Widmann, MA, MS Cytogeneticists: M. Lita Alonso, MD Arleen D. Auerbach, PhD Raju S. Chaganti, PhD James German, III, MD Meira F. Shaham, PhD Director, Alpha-Fetoprotein Laboratory: Daniel M. Knowles, MD Specialty Clinics: Craniofacial Clinic Fanconi Anemia Clinic Hemophilia Clinic Marfan Syndrome/Mitral Valve Prolapse/Other Connective Tissue Disorders Program Muscular Dystrophy Clinic Myelomeningocele Clinic Neurofibromatosis Clinic Osteogenesis Imperfecta Clinic Retinoblastoma Clinic Skeletal Dysplasia Clinic Thalassemia Clinic Satellite Clinics: Brooklyn Hospital Chinatown Health Clinic The Hospital for Special Surgery The New York Hospital (Bronx) - Lincoln Hospital, St. Barnabas Hospital The New York Hospital - Queens Division (Booth and Flushing) Research Interests: Cancer genetics Chromosomal breakage syndromes Cystic fibrosis Delineation of new syndromes Disorders of the adrenal gland Hematologic disorders Marfan syndrome and other connective tissue disorders Molecular genetics Prenatal diagnosis X chromosome gene mapping Special Hours: As needed by appointment Special Languages: Chinese French Hebrew Italian Spanish Special Resources: Antenatal testing for congenital adrenal hyperplasia Chorionic villus sampling DNA diagnostic laboratory Institute for Genetic Medicine Maternal serum alpha-fetoprotein testing program Molecular testing for congenital adrenal hyperplasia Periumbilical blood sampling Special cytogenetic studies Special hematologic studies NEW YORK STATE PSYCHIATRIC INSTITUTE HSA/Borough: 7/Manhattan Address: New York State Psychiatric Institute Department of Medical Genetics 1051 Riverside Drive New York, NY 10032 Telephone: (212) 543-2475 FAX: (212) 543-6002 Staff: Director: L. Erlenmeyer-Kimling, PhD, DSc Clinical Geneticists: Miron Baron, MD Jill Harkang-Friedman, PhD Charles Kaufmann, MD Dolores Malaspina, MD Nancy Wexler, PhD Molecular Geneticists: T. Conrad Gilliam, PhD James A. Knowles, MD, PhD Genetic Counselor: Graciela Penchaszadeh, MS Specialty Clinics: Psychiatric Disorders Clinic Satellite Clinics: Research Interests: Bipolar disorders Genetics of psychiatric disorders Huntington's disease Molecular genetics Schizophrenia Suicide Special Hours: Special Languages: Hebrew Spanish Special Resources: DNA research laboratory STATEN ISLAND UNIVERSITY HOSPITAL HSA/Borough: 7/Staten Island Address: Staten Island University Hospital 475 Sequine Avenue Staten Island, NY 10309 Telephone: (718) 226-2884/2888 FAX: (718) 226-2722 Staff: Director of Laboratories: Karl W. Lanks, MD, PhD Clinical Geneticist: Susan Sklower Brooks, MD Perinatologist: James Ducey, MD Jonathan Mays, MD Specialty Clinics: Cleft Lip/Cleft Palate Clinic Satellite Clinic: Research Interests: Cancer cytogenetics Molecular Genetics Special Hours: Special Languages: Special Resources: CVS Early amniocentesis Fetal electrocardiogram High resolution sonography High-risk obstetrics Missed abortions ST. MARY'S HOSPITAL FOR CHILDREN HSA/Borough: 7/Queens Address: St. Mary's Hospital for Children 29-01 216th Street Bayside, NY 11360 Telephone: (718) 281-8800 FAX: (718) 279-2141 (Please note on the fax: Attention - Genetics Department) Staff: Director and Clinical Geneticist: Kwame Anyane-Yeboa, MD Pediatric Geneticist: Nelly Jouayad, MD Coordinator and Genetic Counselor: Dolores Savage, BSRN, MS Genetic Counselor: Theresa Dugger, MS Specialty Clinics: Satellite Clinics: Research Interests: Special Hours: Special Languages: Special Resources: Inpatient Children's Hospice Inpatient rehabilitative care for children with birth defects BETHPAGE OB/GYN HSA: 8 Address: Bethpage Ob/Gyn 4277 Hempstead Turnpike Bethpage, NY 11714 Telephone: (516) 731-5100 FAX: (516) 731-3758 Staff: Genetic Counselor: Stephanie Tobin-Stern, MS Specialty Clinics: Satellite Clinics: Research Interests: Special Hours: Special Languages: Special Resources: THE GENETICS CENTER HSA: 8 Address: The Genetics Center 48 Route 25A, Suite 205 Smithtown, NY 11787 Telephone: (631) 862-3620 FAX: (631) 862-3622 Web page: www.thegeneticscenter.com E-mail: info@thegeneticscenter.com Staff: Medical Geneticist and Clinical Cytogeneticist: Carolyn Trunca, PhD Clinical, Biochemical and Molecular Geneticist: David B. Hyman, MD Cancer Cytogenetics: Judith Wieland, PhD Genetic Counselor: Sean N. Bryan, MS Specialty Clinics: Satellite Clinics: Research Interests: Cancer genetics Gene mapping by in situ hybridization Human meiosis Metabolic disorders Special Hours: Evenings and Saturdays by appointment Special Languages: German Special Resources: Counseling for high risk cancer families NORTH SHORE UNIVERSITY HOSPITAL HSA: 8 Address: North Shore University Hospital Division of Medical Genetics 300 Community Drive Manhasset, NY 11030 Telephone: (516) 365-3996 FAX: (516) 365-4597 Staff: Chief, Division of Medical Genetics: Martin G. Bialer, MD, PhD Clinical Geneticists: Lakshmi Mehta, MD Director, Genetic Research Laboratory: Robert Pergolizzi, PhD Supervising Genetic Counselor: Gittel Silverberg, MS Genetic Counselors: Yelena Kemel, MS Jill Lundberg, MS Carrie McKenna, MS Julie McLaughlin, MS Sujatha Sastry, MS Kara Small, MS Specialty Clinics: Ashkenazi Jewish Screening Program Cancer Genetics Counseling Huntington's Disease Program Marfan Syndrome Clinic Neurofibromatosis Clinic Satellite Clinics: Huntington Hospital West Islip Pediatric Subspecialty Group Research Interests: Dysmorphology Familial breast cancer Fragile X syndrome Huntington disease Neurofibromatosis Prenatal diagnosis Sex chromosome abnormalities Williams syndrome X-linked mental retardation Special Hours: Special Languages: Hindi Special Resources: Chorionic villus sampling Interphase FISH (prenatal) Periumbilical blood sampling Teratogen counseling LAUREN LYNCH, MD HSA: Address: 1492 Ponce de Leon Avenue Suite 718 San Juan, PR Telephone: (787) 725-6969 FAX: (787) 721-0305 Staff: Director: Lauren Lynch, MD Specialty Clinics: Prenatal diagnosis and therapy Satellite Clinics: Research Interests: Special Hours: Special Languages: English Spanish Special Resources: PONCE SCHOOL OF MEDICINE HSA: Address: Ponce School of Medicine Genetic Division P.O. Box 7004 Ponce, PR 00732 Telephone: (787) 840-2575, ext. 2213 Fax: (787) 840-5698 Staff: Director: Alberto Santiago-Cornier, MD Genetic Counselor: Diana Valencia, MS Clinical Geneticists: Mirna Borges, MD Simón Carlo, MD Investigator: Idhaliz Flores, PhD Specialty Clinics: Satellite Clinics: Arecibo Bayamón Mayaguez Ponce Research Interests: Cystic fibrosis mutations in Puerto Rican population Leptin analysis Linkage mapping - polymorphism, Bardet Biedl and Jarcho- Levin Syndromes Special Hours: Special Languages: English Spanish Special Resources: Biochemical diagnostics DNA laboratory Molecular diagnostics UNIVERSIDAD DE PUERTO RICO HSA: Address: Universidad de Puerto Rico Recinto de Ciencias Médicas Programa de Enfermedades Heritarias de Puerto Rico P.O. Box 365067 San Juan, PR 00936-5067 Telephone: (787) 777-3535 Fax: (787) 751-5812 Staff: Directors: Enid Caragol-Rivera, MD Lillian González-Pijem, MD Pedro J. Santiago-Borrero, MD Specialty Clinics: Enfermedades metabólicas Fenilcetonuria Hemoglobinopatias Hemofilia Hipotiroidismo Talasemia Satellite Clinics: Hematology Clinic, University Pediatric Hospital Research Interests: Genetic mutations of hemophilia and HbS Special Hours: Special Languages: Spanish Special Resources: Hemofilias Hemoglobinopatias Human genetics laboratories Metabolic genetic diseases and basic science NEW YORK STATE PERMITTED CYTOGENETIC LABORATORIES The current status of a laboratory's clinical license may be verified with the following Wadsworth Center offices and the Wadsworth Center website: Cytogenetic Quality Assurance Program Ann M. Willey, PhD, JD Nanette P. Healy (518) 474-6796 Clinical Laboratory Evaluation Program Deirdre Astin (518) 485-5378 Clinical Laboratory Evaluation Program Cytogenetics Category Website: www.wadsworth.org/labcert/clep/links_for_CYTO.html Laboratories are issued permits in one or more categories based on the diagnostic services that are offered. The permit subcategories are: Cancer Cytogenetics Laboratories may perform cytogenetic evaluations of blood dyscrasias and acquired cytogenetic changes of neoplasias. Limited Cytogenetics Laboratories may perform cytogenetic tests exclusive of prenatal diagnosis and cancer cytogenetics. Prenatal Cytogenetics Laboratories may perform prenatal cytogenetic diagnosis. HSA 1 # 4320 Richard W. Erbe, MD KALEIDA HEALTH Cancer (716) 878-7530 CHILDREN'S GENETIC LABORATORY Limited 936 Delaware Avenue Prenatal Buffalo, NY 14209 # 3356 Michelle J. Marinello, PhD GENETIC DIAGNOSTIC Cancer (716) 881-4865 LABORATORIES, INC. Limited 490 Delaware Avenue Prenatal Buffalo, NY 14202 # 2002 AnneMarie Block, PhDROSWELL PARK CANCER INSTITUTE CORP. Cancer (716) 845-4491 Cytogenetics Laboratory Limited Elm and Carlton Streets Buffalo, NY 14263 HSA 2 # 2093 Nancy Wang, PhD UNIVERSITY OF ROCHESTER - Cancer (716) 275-5859 STRONG MEMORIAL HOSPITAL Limited Cytogenetics Laboratory Prenatal 601 Elmwood Avenue, Box 777 Rochester, NY 14642 HSA 3 # 2220 Constance Stein, PhD SUNY UPSTATE MEDICAL CENTER Cancer (315) 473-4716 Cytogenetics, Clinical Pathology Limited 750 Adams Street Prenatal Syracuse, NY 13210 HSA 5 # 1485 Betty A. Harrison, MS ALBANY MEDICAL CENTER Cancer (518) 626-0681 Cytogenetics Laboratory Limited 113 Holland Avenue Prenatal Albany, NY 12208 # 1067 Ann M. Willey, PhD, JDNEW YORK STATE DEPARTMENT OF HEALTH Cancer (518) 474-6796 Cytogenetics Laboratory Limited Wadsworth Center Prenatal Empire State Plaza Albany, NY 12201-0509 HSA 6 # 4017 Martha Weinstein, PhD GENZYME GENETICS Cancer (914) 347-3443 100 Corporate Drive Limited Yonkers, NY 10701 Prenatal # 4589 Chandrika Sreekantaiah, PhD UNIVERSITY PATHOLOGY Cancer (914) 345-3007 REFERENCE LABORATORY Limited 4 Skyline Drive Prenatal Hawthorne, NY 10532 HSA 7/Bronx # 2465 Linda Cannizzaro, PhD MONTEFIORE MEDICAL CENTER Cancer (718) 920-4523 Department of Pathology Limited Henry and Lucy Moses Division 111 East 210th Street Bronx, NY 10467 # 4191 Harold M. Nitowsky, MDMONTEFIORE MEDICAL CENTER/EINSTEIN Cancer (718) 430-4195 COLLEGE Limited Reproductive Genetics Laboratory Prenatal 1635 Poplar Street Bronx, NY 10461 HSA 7/Brooklyn # 4581 Edmund Jenkins, PhDTHE BROOKDALE HOSPITAL MEDICAL Cancer (718) 240-6018 CENTER Limited Cytogenetics Laboratory Prenatal One Brookdale Plaza Brooklyn, NY 11212 # 3807 Maryala Krishna, PhDINTERSCIENCE DIAGNOSTIC LABS, INC. Cancer (718) 745-0443 6912 Fort Hamilton Parkway Limited Brooklyn, NY 11228 Prenatal # 4579 Harvey Dosik, MD NEW YORK METHODIST HOSPITAL Cancer Ernest Lieber, MD 506 Sixth Street, Box 159008 Limited (718) 780-3258 Brooklyn, NY 11215-9008 # 7448 Arvind Babu, PhD WYCKOFF HEIGHTS MEDICAL CENTER Cancer (718) 963-6100 Cytogenetics Laboratory Limited 374 Stockholm Street Prenatal Brooklyn, NY 11237 HSA 7/Manhattan # 3953 Jar-Fee Yung, PhD IMPATH, INC. Cancer (212) 698-0300 521 West 57th Street, 6th Floor Limited New York, NY 10019 # 5405 Raju S. Chaganti, PhD MEMORIAL HOSPITAL-SLOAN Cancer (212) 639-6402 KETTERING CANCER CENTER Limited 1275 York Avenue New York, NY 10021 # 3516 Robert J. Desnick, PhD, MOUNT SINAI MEDICAL CENTER Limited MD Genetics Testing Laboratory Prenatal (212) 241-6947 One Gustave L. Levy Place New York, NY 10029 # 5227 Vesna Najfeld, PhD MOUNT SINAI MEDICAL CENTER Cancer (212) 650-8816 Tumor Cytogenetics Laboratory One Gustave L. Levy Place New York, NY 10029 # 3651 M. Lita Alonso, MD THE NEW YORK HOSPITAL-CORNELL Cancer (212) 746-2437 MEDICAL CENTER Limited 525 East 68th Street, Room F-715 Prenatal New York, NY 10021 # 5310 Dorothy Warburton, PhDNEW YORK PRESBYTERIAN HOSPITAL Cancer (212) 305-3020 Genetics Diagnostics Laboratory Limited Babies Hospital Prenatal 627 West 168th Street New York, NY 10032 # 4748 Mary Ann Perle, PhDNEW YORK UNIVERSITY MEDICAL CENTER Cancer (212) 263-6454 New Bellevue Hospital Limited Room 4N20 Prenatal 550 First Avenue New York, NY 10016 # 3492 Arleen D. Auerbach, PhDTHE ROCKEFELLER UNIVERSITY Limited (212) 327-8862 HOSPITAL Prenatal Section of Cytogenetics (Restricted to 1230 York Avenue Fanconi Anemia) New York, NY 10021 HSA 7/Queens # 1089 Ann-Leslie Zaslav, PhD NORTH SHORE LONG ISLAND Cancer (718) 326-1953 JEWISH MEDICAL CENTER Limited Division of Human Genetics Prenatal 270-05 76th Avenue, Room B315 New Hyde Park, NY 11040 HSA 7/Staten Island # 2516 Edmund C. 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