In December, 2011, the Division of Consolidated Laboratories, began screening for Cystic Fibrosis
using a two tiered approach. Please click on the presentation below for more information
concerning the change and outcomes to date.
Two-Tier NBS for CF in Virginia
Severe combined immunodeficiency (SCID) is a genetically-determined condition that results in lack of cellular and humoral immunity. It is estimated that there is one new case per 50,000 to 100,000 live births. Infants with SCID are highly susceptible to infections and may not be diagnosed until these infections prompt the pediatrician to examine their immune system, usually after 4 months of age.
Without newborn screening, the diagnosis of SCID is usually based on history of infections, tests on blood lymphocytes and gene sequence analysis. In only about 20% of cases is a family history of SCID available.
Healthcare Provider Manual | Healthcare Provider Fact Sheets | Parent Refusal Form
The manual Healthcare Practitioner Manual includes general program information and resources, as well as fact sheets for each disorder.
The following fact sheets are the same fact sheets that are included in the Healthcare Practitioner Manual.
The companies below charge a fee for additional screening that may not be offered in your state. NNSGRC provides the following websites for information only, and does not imply endorsement of any particular company.
Mayo Medical Laboratories
Mayo Medical Laboratories, the reference laboratory for Mayo Clinic, provides supplemental newborn screening for more than 20 disorders using tandem mass spectrometry. The screening is performed separately from state-mandated screening and does not replace state-mandated screening. The test is performed under the supervision of pediatric geneticists in Mayo's Biochemical Genetics Laboratory.
Toll free number: 1-800-533-1710
Perkin Elmer Genetics, Inc
The PerkinElmer Genetics Screening Laboratory provides comprehensive newborn screening through a simple, fast and accurate product, StepOneTM. StepOne Comprehensive Newborn Screening detects more than 50 disorders in newborns from just a few drops of blood. This screening allows parents
the opportunity to protect their babies from the preventable complications
of undiagnosed disorders.
Toll free number: 1-866-463-6436
University of Colorado Expanded Newborn Screening Program
The Expanded Newborn Screening Program allows parents to have their babies screened for over 20 additional disorders. Tests are run at the Biochemical Genetics Laboratory University of Colorado Health Sciences Center
At Fitzsimons - Aurora, Colorado.
Phone number: 303-724-3826
2M Associates, Inc. 2M Associates, Inc. is associated with The University of Colorado Health Sciences Center, Denver, (U.S.A.) and provides expanded newborn screening in the U.S., India, and the United Arab Emirates and a number of other countries. All of the samples are processed in U.S. laboratories.
Phone number: 440-498-7484
Baylor Medical Center Institute of Metabolic Disease
Site offers education material and information on newborn screening disorders. It also includes information on ordering supplemental newborn screening tests offered at Baylor.
Toll free number: 1-800-422-9567
The form Notification of Parental Refusal of Dried-Blood-Spot Screening is to be completed and signed by the infant’s parent or guardian who refuses the newborn blood spot screening on the grounds that such test conflicts with his or her religious practices or tenets. Healthcare providers should keep the original for their records and mail or fax a copy of the form to the Virginia Department of Health (address is on form).To view and download form, click Notification of Parental Refusal of Dried-Blood-Spot Screening.
Contact us at kathleen.moline@vdh.virginia.gov
Kathleen Moline, BSN, MA
Virginia Newborn Screening Program Manager
Virginia Department of Health
109 Governor Street, 8th Floor, Richmond, Virginia 23219
Phone: (804) 864-7712 FAX: (804) 864-7807
