Genetic Disorders

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Genetic Disorders has no subcategories

    Taxonomy Code: YF-3000.3280

    Any of a number of illnesses or conditions that are the direct result of the mutation of one or more genes. Some genetic disorders are hereditary, transmitted from parent to offspring, but others occur spontaneously and are not familial in origin.

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    There are 21 matching records.
    Service NameDescriptionLocationProgramAgency
    AXYSProvides mutual support group, educational materials and programs, newsletters, and e-mail support lists in addition to website based information for individuals affected by sex chromosome aneuploidy (extra X or Y chromosome). Also provides telephone support for parents with prenatal diagnosis of Klinefelter Syndrome.AXYSAXYS
    CARRIER SCREENING PROGRAMS FOR GENETIC DISEASESPromotes genetic screening through local affiliated hospitals and community screening projects. Genetic counselor for consultation and referral.CARRIER SCREENING PROGRAMS FOR GENETIC DISEASESNATIONAL TAY-SACHS AND ALLIED DISEASES ASSOCIATION/NEW YORK AREA CHAPTER
    CHILDREN'S ORTHOPAEDIC AND REHABILITATION CENTERProvides comprehensive evaluation and treatment of congenital deformities, acquired conditions, trauma and neuromuscular disorders.NassauCHILDREN'S ORTHOPAEDIC AND REHABILITATION CENTER COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    COMMUNITY HABILITATIONOffers services that focus on training for community integration and independent living. Limited hours.SuffolkCOMMUNITY HABILITATIONUCP OF LONG ISLAND
    COMPREHENSIVE EPILEPSY CENTER OF LONG ISLANDProvides diagnosis, prevention, and treatment of epilepsy and seizure disorders through inpatient and outpatient services, neuropsychological evaluations, electrocorticography, surgery with brain mapping, Vagal Nerve stimulator surgical inplants, and epilepsy support groups genetic counseling is also provided. Call for appointment/information.SuffolkCOMPREHENSIVE EPILEPSY CENTER OF LONG ISLANDST. CHARLES HOSPITAL
    CYTOGENETICS DEPARTMENTEvaluates chromosomes in blood, bone marrow, and amniotic fluid for a wide variety of prenatal and postnatal clinical disorders. Seeks to determine the patient's karyotype (chromosome structure) and identifies abnormalities.NassauCYTOGENETICS DEPARTMENTNASSAU UNIVERSITY MEDICAL CENTER
    DEPARTMENT OF PEDIATRICSProvides primary care services and subspecialty services in pediatrics including the following: Adolescent Medicine, Allergy Immunology, Cardiology, Cody Center for Autism and Developmental Disabilities, Critical Care, Developmental and Behavioral, Endocrinology, Gastroenterology, Genetic and Metabolic Disorders, Hematology and Oncology, Pediatric AIDS Center, Infectious Diseases, Neonatal Intensive Care Unit, Nephrology, Pulmonology. Also offers Cystic Fibrosis Center, Children's Kidney Center, Children's Lung, Allergy and Breathing Center, as well as Counseling, Education and Support for Kids.SuffolkDEPARTMENT OF PEDIATRICSSTONY BROOK UNIVERSITY HOSPITAL
    DIVISION OF MEDICAL GENETICSProvides diagnosis and treatment for adults and children with inherited and sporadic genetic disorders. Special programs include: Prenatal Genetic Counseling, Lysosomal Storage Disease Program, Familial Cancer Risk Counseling, Neurofibromatosis Clinic, Huntington Disease Predictive Testing, Marfan Syndrome and Craniofacial Center.NassauDIVISION OF MEDICAL GENETICS COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    DOLAN DNA LEARNING CENTERScience center devoted entirely to genetics education and operates center for molecular genetic research. Offers field trips, student summer day camps, education workshops, teacher training and fellowships, school district membership programs and opportunities for public education.SuffolkDOLAN DNA LEARNING CENTERCOLD SPRING HARBOR LABORATORY
    EDUCATIONAL INFORMATIONProvides educational literature on Tay-Sachs and other allied diseases due to inborn errors of metabolism, such as Canavan Disease, Gaucher Disease, Niemnan-Pick, Sandhoff Disease, Jewish Genetic Diseases and other allied diseases.EDUCATIONAL INFORMATIONNATIONAL TAY-SACHS AND ALLIED DISEASES ASSOCIATION/NEW YORK AREA CHAPTER
    GENETIC ALLIANCE, INC.Provides support to individuals with genetic conditions and their families, educates the public and advocates for consumer-informed public policies.GENETIC ALLIANCE, INC.GENETIC ALLIANCE, INC.
    HEMOPHILIA TREATMENT CENTERProvides comprehensive multidisplinary services to children and their families with hemophilia, Von Willebrand disease and related bleeding disorders. Staffing includes two hematologists (one pediatric, one adult), and orthopedist, two nurse clinicians, genetic counselor, social worker, physical therapist and a dental hygienist.NassauHEMOPHILIA TREATMENT CENTER COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    HUMAN GENETICS CENTEROffers comprehensive genetic services that provide physicians and their patients with essential information about advanced maternal age and pregnancy, inherited illnesses, chromosomal disorders, congenital anomalies, recurrent miscarriages and inherited disorders associated with hormonal abnormalities. Genetic counseling, prenatal diagnostic services, cytogenetics laboratory services, and a genetic/metabolic endocrine program are offered.NassauHUMAN GENETICS CENTERWINTHROP UNIVERSITY HOSPITAL
    JEWISH GENETIC DISEASE PROGRAMCertain inherited diseases occur more frequently in a given ethnic or racial group than in the general population. The Jewish Genetic Disease Program provides education, genetic screening, genetic counseling and clinical services for individuals or families commonly affected by these diseases. Fanconi Anemia (Type C), Tay-Sachs Disease, Canavan Diseases, Niemann-Pick Disease, Bloom Syndrome,Mucolipodosis (Type lV), Gaucher Disease (Type l), Familial Dysautonomia and Cystic Fibrosis are among the many genetic diseases that have been tested.NassauJEWISH GENETIC DISEASE PROGRAM COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    LYSOMAL STORAGE DISEASE CENTER FOR CHILDREN AND ADULTSProvides comprehensive treatment for patients of all ages with Lysomal Storage Diseases, such as Gaucher Disease, Pompe Disease, Fabry Disease, and Mucopolysaccharide Storage Diseases. Provides all the components of care for patients and their families from initial consultation, testing and diagnosis to follow-up and treatment as well as genetic counseling, carrier screening and prenatal diagnosis.NassauLYSOMAL STORAGE DISEASE CENTER FOR CHILDREN AND ADULTS COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    MARFAN SYNDROMEPatients are evaluated by the Divisions of Human Genetics and Cardiology. Referrals to Orthopedic and Ophthalmologic services are coordinated by the genetic counselor, as needed. Patients are seen for medical follow-up and counseling at reqular intervals. The Clinic provides diagnosis, management coordination of medical care, genetic counseling and education.NassauMARFAN SYNDROME COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    NATIONAL ORGANIZATION FOR RARE DISORDERSActs as a clearinghouse and referral service for information on rare diseases. Maintains a comprehensive rare disease database, which provides families with information on over 1,100 rare disorders. Its networking program links families with other families who are afflicted with similar disorders. Accumulates and disseminates information about orphan drugs and devices, making known their availability. Advocates the needs of people with rare disorders. Provides disease specific medical reports written in lay language. Also offers a Medication Assistance Program for specific drugs and a medical equipment exchange program. Publishes Orphan Disease Update and Resource Guide . Call for more information.NATIONAL ORGANIZATION FOR RARE DISORDERSNATIONAL ORGANIZATION FOR RARE DISORDERS
    OSTEOGENESIS IMPERFECTA FOUNDATIONOnly voluntary national organization dedicated to helping people cope with the problems associated with osteogenesis imperfecta, a bone disorder characterized by fragile bone that breaks easily. Also known as "brittle bone disease".OSTEOGENESIS IMPERFECTA FOUNDATIONOSTEOGENESIS IMPERFECTA FOUNDATION
    PEDIATRIC THALASSEMIA COMPREHENSIVE CARE CENTERProvides care of children with thalassemia including genetic counseling and prenatal diagnosis, medical therapies, stem cell transplantation, and education and support for families.NassauPEDIATRIC THALASSEMIA COMPREHENSIVE CARE CENTER COHEN CHILDREN'S MEDICAL CENTER NORTHWELL HEALTH
    REFERRALSProvides referrals for medical and genetic support to families of children afflicted with Tay-Sachs and allied diseases. Also makes referrals to parents outreach and on-going parent support groups. Referrals for current testing to area laboratories that participate in quality control program.REFERRALSNATIONAL TAY-SACHS AND ALLIED DISEASES ASSOCIATION/NEW YORK AREA CHAPTER
    SUPPORT SERVICES DEPARTMENTConsists of two departments, the Information Resource Center and the National Volunteer Network. The Information Resource Center provides individualized information, counseling and support about diagnosis and management of Marfan Syndrome and related disorders to patients, family members and medical professionals. The National Volunteer Network consists of chapters, network groups and support groups. Groups provide support to members and carry out the Foundation's mission at the local level. Call for more information.NassauSUPPORT SERVICES DEPARTMENTNATIONAL MARFAN FOUNDATION

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