• English

    Google Translate Disclaimer

    The Maryland Department of Information Technology (“DoIT”) offers translations of the content through Google Translate. Because Google Translate is an external website, DoIT does not control the quality or accuracy of translated content. All DoIT content is filtered through Google Translate which may result in unexpected and unpredictable degradation of portions of text, images and the general appearance on translated pages. Google Translate may maintain unique privacy and use policies. These policies are not controlled by DoIT and are not associated with DoIT’s privacy and use policies. After selecting a translation option, users will be notified that they are leaving DoIT’s website. Users should consult the original English content on DoIT’s website if there are any questions about the translated content.

    DoIT uses Google Translate to provide language translations of its content. Google Translate is a free, automated service that relies on data and technology to provide its translations. The Google Translate feature is provided for informational purposes only. Translations cannot be guaranteed as exact or without the inclusion of incorrect or inappropriate language. Google Translate is a third-party service and site users will be leaving DoIT to utilize translated content. As such, DoIT does not guarantee and does not accept responsibility for, the accuracy, reliability, or performance of this service nor the limitations provided by this service, such as the inability to translate specific files like PDFs and graphics (e.g. .jpgs, .gifs, etc.).

    DoIT provides Google Translate as an online tool for its users, but DoIT does not directly endorse the website or imply that it is the only solution available to users. All site visitors may choose to use alternate tools for their translation needs. Any individuals or parties that use DoIT content in translated form, whether by Google Translate or by any other translation services, do so at their own risk. DoIT is not liable for any loss or damages arising out of, or issues related to, the use of or reliance on translated content. DoIT assumes no liability for any site visitor’s activities in connection with use of the Google Translate functionality or content.

    The Google Translate service is a means by which DoIT offers translations of content and is meant solely for the convenience of non-English speaking users of the website. The translated content is provided directly and dynamically by Google; DoIT has no direct control over the translated content as it appears using this tool. Therefore, in all contexts, the English content, as directly provided by DoIT is to be held authoritative.

    The Division for Clinical Genetic Services

    This division coordinates a statewide network of clinical genetic services at three centers, thirteen (13) general genetics outreach clinics, six sickle cell disease outreach clinics, and two hemophilia outreach clinics. Our private sector partners provide these clinics through a cooperative funding agreement. Tay Sachs Screening is available through Johns Hopkins Hospital and the University of Maryland.  Case management for hemophilia patients is available through the comprehensive hemophilia treatment program, a cooperative project with Johns Hopkins and St. Agnes Hospitals.
    The clinical services division each year serves approximately 8,000 people. All Maryland residents are eligible for service.
    This division includes the Metabolic Nutrition Follow-up Program, which follows patients with genetic metabolic disorders like PKU or MSUD and provides case management and dietary therapy. The Hemoglobin Disorders Program follows children with sickle cell disease and other hemoglobin disorders and provides case management, home visiting, annual pediatric hematology evaluation, genetic counseling, parent education, support groups and summer camp.
    This Division also includes the Birth Defects Reporting and Information System (BDRIS), which collects data on the number of babies born with any of twelve common birth defects and provides information on the defects and services available.

    Genetic Screening and Counseling

    The Genetics program also provides the following types of screening:


    This program follows patients with genetic metabolic disorders like PKU or MSUD, providing long term case management and dietary therapy. These patients cannot eat regular food and need a special diet consisting of special formulas and specially modified foods. All patients with these disorders residing in Maryland are eligible for service - there is no charge for the nutritionists or for case management. The services of the Metabolic disease specialists are charged on the sliding fee scale with all types of third party payment accepted. No patient is refused services for inability to pay. Blood metabolite levels are run without charge by the Laboratories Administration. Special formulas are available from Medical Assistance and CMS for families meeting the financial eligibility requirements of those programs. State law mandates that insurers cover both the special formulas and the special low protein modified food products. Unfortunately, insurance provided through companies that "self insure" is exempt from state laws and regulations and may not cover these products.
    This program follows children with Sickle Cell Disease and other hemoglobin disorders providing long term case management, home visiting, annual pediatric hematology evaluations, genetic counseling, parent education, support groups and summer camp. We work with several voluntary groups. All children with sickle cell disease under three years of age residing in Maryland are eligible for intensive case management. Older children are at lower risk and receive less intense management. There is no charge for home visits, case management, parent education, support group activities or summer camp. Clinical hematology services and genetic counseling are charged on the sliding fee scale with all types of third party payment accepted and no patient is refused service for inability pay.
    Maryland law established the BDRIS in 1982. Data collection began September 1, 1983. This system has historically collected data on the number of babies born with any of twelve common birth defects, monitored birth defect trends especially in relationship to environmental hazards, and provided information on the defects and services to the parents and families of affected infants. All patients with these disorders are eligible for information and referral services at no charge. The twelve "sentinel" birth defects are chosen by the World Health Organization for their international birth defects surveillance program. These include: Anencephaly, Spina Bifida, Hydocephalus, Cleft Lip with or without Cleft Palate, Cleft Palate, Esophageal Atresia/Tracheo-Esophageal, Fistula, Rectal/Anal Atresia, Hypospadias, Reduction Deformity (upper limb), Reduction Deformity (lower limb), Congenital Hip Dislocation, and Down Syndrome.  In 2008 legislation was passed to expand the program to collect data on all significant birth defects.  Advisory committees to guide the expansion are expected to begin meeting in late 2008.

    Site Links

    The National Organization for Rare Disorders provides information and resources for families and medical providers about rare conditions. You can visit their website at http://rarediseases.org/.