Genetic Diseases and Lead Poisoning Prevention
The Louisiana Genetic Diseases Program was established in 1981 through a federal grant from the Health Resources and Services Administration (HRSA). The purpose of the program continues to be the operation of a comprehensive newborn heel stick screening program meeting national standards as well as to ensure access to genetic evaluation and counseling to residents in all areas of Louisiana.
Severe Combined Immunodeficiency- Proposed RuleThe Genetic Diseases Program is proposing to amend its existing rule to add an additional test to the newborn screening panel to test for Severe Combined Immunodeficiency. In accordance with the Administrative Procedure Act, notice is here by provided that a copy of the proposed rule has been delivered on July 10, 2018 to the legislative oversight committees which oversee LDH rulemaking.
The major amendment to the existing Newborn Heel Stick Screening rule proposes to add Severe Combined Immunodeficiency (SCID) to the panel of tests all newborns are screened for in Louisiana. Secondarily, the proposed rule updates procedures to reflect modern laboratory methodologies and to update current addresses, phone numbers and fax numbers. Finally, a proposed amendment to the lab fee rule will make the Newborn Screening Panel lab test fee consistent with the fee currently collected by the Newborn Heel Stick Screening program.
The current rule can be found on the Division of Administration Office of the State Register website under LAC 48, Part V in Book 2 of 2.
Click here to visit the DOA OSR website.
Click here to view a copy of the proposed Newborn Heel Stick Screening rule which is coded with any new rule language that is to be added to the existing rule underscored and any language that is to be deleted from the existing agency rule in struck-through type.
The expected publication date of the Notice of Intent (NOI) in the Louisiana Register is July 20, 2018.
The anticipated effective date of the proposed rule is October 20, 2018.
Also known as Globoid Cell Leukodystrohpy, Krabbe Disease is an inherited disorder that destroys the protective coating of nerve cells in the brain and throughout the nervous system. Click here to download more information about Krabbe disease, including information on screening.
New Cutoff Values for Newborn Screening
The Office of Public Health Laboratory had completed a review for all of the cut-off values used for newborn screening testing based on 2015 data. The evaluation was done first by comparing the mean values observed (measured) values for each analyte (compound detected) during 2015 to the 2014 mean values for the same analyte. This is a way to look for shifts in the average reference values for the Louisiana newborn population as a whole. Please click here for evaluation method and detail updates.
NEW links to videos regarding Newborn Screening specimen collection for staff training:
- Standards for Care of Patients with Sickle Cell Disease
- Newborn Screening Frequently Asked Questions
- "Louisiana Newborn Heel Stick Screening: Make sure your baby is tested"
- List of Disorders
- Lead Prevention Plans
- Screening, Technology And Research in Genetics (STAR-G) Disorder Factsheets for Parents
- American College of Medical Genetics (ACMG)Recommended Newborn Screening Panel
- Clinical Services
- Hemophilia Program
- Childhood Lead Poisoning Prevention
- Newborn Screening
- Sickle Cell Disease
For More Information Contact Us